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Update in Radiology
Imaging in the study of macrocephaly: Why?, when?, how?
Radiología en el estudio de la macrocefalia. ¿Por qué?, ¿cuándo?, ¿cómo?
V. Schonstedt Geldresa,b,c,
Corresponding author
vschonstedt@alemana.cl

Corresponding author.
, X. Stecher Guzmána,c, C. Manterola Mordojovichc,d,e, À. Roviraf
a Departamento de Imágenes de Clínica Alemana, Santiago, Chile
b Departamento de Radiología, Hospital Luis Calvo Mackenna, Santiago, Chile
c Facultad de Medicina, Clínica Alemana — Universidad del Desarrollo, Santiago, Chile
d Departamento de Pediatría, Clínica Alemana de Santiago, Santiago, Chile
e Facultad de Medicina, Universidad de Chile - Hospital Dr. Luis Calvo Mackenna, Santiago, Chile
f Sección de Neurorradiología, Servicio de Radiología, Hospital Universitario Vall d’Hebron, Barcelona, Spain
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          "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Examples of metabolic megalencephaly</span>&#46; In this disease group&#44; radiological findings are generally symmetrical&#46; A&#41; <span class="elsevierStyleBold">Alexander disease</span>&#46; An increase in the T2 signal of the predominantly frontal white matter &#40;green arrow&#41; and basal ganglia &#40;green arrow tips&#41; as well as periventricular T1 signal hyperintensity &#40;orange arrows&#41; are characteristic&#46; Courtesy of Dr Felice D&#39;Arco&#44; London&#46; B&#41; <span class="elsevierStyleBold">Canavan disease</span>&#46; Imaging in T2-weighted sequences exhibits extensive white matter signal hyperintensity and abnormalities in the basal ganglia&#46; Spectroscopy shows a significant&#44; characteristic N-acetylaspartate peak &#40;yellow arrow tip&#41;&#46; Courtesy of Dr Luis Filipe de Souza Godoy&#44; S&#227;o Paulo&#46; C&#41; <span class="elsevierStyleBold">Megalencephalic leukoencephalopathy with subcortical cysts</span>&#46; In T2-weighted sequences&#44; an extensive signal hyperintensity of the white matter is observed&#44; in a diffuse and homogeneous form&#46; Frontal subcortical cysts &#40;not shown&#41; and temporal subcortical cysts &#40;white arrow&#41; are recognised&#46; Courtesy of Dr Felice D&#39;Arco&#44; London&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Macrocephaly is a clinical term defined as an increase in occipitofrontal circumference by more than two standard deviations &#40;SDs&#41;&#44; or in the 97th percentile&#44; for age and sex&#46; It affects 5&#37; of the population&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> Macrocephaly must be distinguished from megalencephaly&#44; corresponding to enlargement of brain parenchyma by two SDs above the mean for age&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#8211;6</span></a> Suitable radiological examination of patients with a diagnosis of macrocephaly requires knowledge of normal skull development and awareness of the various aetiologies of an increase in head circumference &#40;<span class="elsevierStyleSmallCaps">HC</span>&#41;&#46; In the first 12 months of life&#44; the brain parenchyma grows very rapidly&#44; and therefore so does the skull&#46; This is achieved because the cranial sutures and fontanelles are open&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Between 12 and 24 months of age&#44; brain growth starts to slow down&#59; between 2 and 5 years&#44; it is significantly slower&#44; and after 5 years&#44; it is minimal&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> With this&#44; the cranial sutures start to close and the skull loses its capacity for expansion&#46; Therefore&#44; before the age of five&#44; but in particular before age two&#44; situations involving an increase in intracranial volume&#44; such as hydrocephalus&#44; can cause the skull to expand&#44; as long as they develop gradually&#46; By contrast&#44; if the increase in intracranial volume has an acute onset&#44; the skull does not expand and the patient will have symptoms of intracranial hypertension&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> Increased thickness of the cranial vault&#44; as seen in some bone diseases&#44; can also cause macrocephaly&#44; although this is an uncommon cause&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Macrocephaly is a common indication in radiological studies&#59; hence&#44; the situations in which they should be performed and the techniques that should be used to perform them must be known&#46; The objective of this article is to set out updated recommendations in relation to the radiological study of children with macrocephaly&#44; briefly review the main entities that cause an increase in HC and propose an algorithm for the diagnosis of these entities&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Why perform radiological studies in macrocephaly&#63;</span><p id="par0015" class="elsevierStylePara elsevierViewall">Macrocephaly is a clinical finding that may have a wide variety of causes&#46; Its most common aetiologies are non-pathological conditions not associated with other clinical abnormalities&#44; such as familial megalencephaly and benign enlargement of the subarachnoid space&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> Another group of patients consists of those who have an aetiological diagnosis associated with macrocephaly&#44; such as neurofibromatosis type 1 &#40;NF1&#41; or tuberous sclerosis&#44; usually in association with neurocutaneous stigmata&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> However&#44; in a small group of patients&#44; macrocephaly may be secondary to an increase in intracranial contents&#44; as in hydrocephalus&#44; subdural collections&#44; cysts and intracranial tumours&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a> The importance of neuroradiology studies in patients with macrocephaly lies in making a timely diagnosis in these children&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">In what situations should radiological studies be performed&#63;</span><p id="par0020" class="elsevierStylePara elsevierViewall">Given the wide variety of diagnoses that present with macrocephaly and the high rates of causes that do not signify a disease state&#44; it is important to pursue an appropriate strategy for the radiological study of these patients&#46; The best strategy would detect cases with significant intracranial disease&#44; for their medical or surgical management&#44; and would minimise unnecessary studies&#44; which could involve exposure to ionising radiation or the use of anaesthesia&#44; and furthermore could drive up healthcare costs&#46; To date&#44; no clinical guidelines have been published by the leading medical scientific associations in relation to the indications for radiological studies in children with macrocephaly&#46; In the presence of neurological symptoms&#44; developmental abnormalities or neurocutaneous stigmata&#44; there is a widespread consensus that these patients must undergo radiological studies&#46; Such were the findings of Haws et al&#46;&#44; in whose study 30&#37; of patients with macrocephaly and neurological deficits had pathological findings on radiological studies&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In the same vein&#44; Sampson et al&#46; found in a series of 169 children with macrocephaly that patients with abnormal radiological studies had higher odds of developmental delays and neurological symptoms&#46; For their part&#44; Zahl et al&#46; found that&#44; in 46&#37; of 298 children with intracranial expansive conditions&#44; the initial symptom that led to diagnosis was an increase in HC&#46; This confirms the usefulness of HC measurement in health check-ups&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> Indications for radiological studies are more heavily debated in patients with macrocephaly but none of the above-mentioned risk factors&#44; since the cause is benign in the vast majority of cases&#46; However&#44; a small percentage of those patients have significant disease&#46; This was recently found by Thompson et al&#46; in a series of 440 infants with macrocephaly studied initially with transfontanellar brain ultrasound &#40;US&#41;&#44; where 2&#46;2&#37; showed significant findings&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a> These results were similar to those of Naffaa et al&#46;&#44; who found a corresponding rate of 1&#46;8&#37; in 326 infants&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> Thompson et al&#46; suggested US in all asymptomatic infants in order to identify those 2&#37; of abnormalities&#46; By contrast&#44; Naffaa et al&#46; suggested clinical surveillance as the strategy with the best performance&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">In light of the information above and based on our clinical practice&#44; we have prepared a strategy for optimising radiological evaluation of children with macrocephaly&#44; establishing three risk groups&#46; The high-risk group includes children with neurological abnormalities&#44; neurocutaneous stigmata&#44; developmental delays and a rapid increase in HC&#46; Unlike other groups&#44;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10&#44;11</span></a> we considered a rapid increase in HC to be a high-risk characteristic <span class="elsevierStyleItalic">a priori</span> since&#44; while it may be seen in infants with benign enlargement of the subarachnoid space &#40;BESS&#41;&#44; it is highly indicative of expansive conditions such as congenital hydrocephalus&#44; certain tumours and subdural collections &#8212; sometimes as a lone clinical finding&#46; We also established a very low-risk category&#44; which includes patients without the above-mentioned risk factors who have at least one parent with macrocephaly&#44; as having a parental history of macrocephaly is predictive of having a normal radiological study&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a> Finally&#44; the low-risk group features patients with no high risk factors and no parental history of macrocephaly&#46; We recommend that only very low-risk patients may go without a radiological evaluation&#46; In low-risk patients&#44; a US evaluation is recommended&#44; technique and conditions permitting&#46; A summary of recommendations for radiological study of macrocephaly appears in <a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">What radiological technique should be used&#63;</span><p id="par0030" class="elsevierStylePara elsevierViewall">The open anterior fontanelle&#44; in infants six to nine months of age&#44; makes US a reasonable initial study when there is low suspicion of disease &#40;low-risk group&#41;&#46; Its low cost&#44; widespread availability&#44; lack of radiation and absence of requirements for anaesthesia render it a good initial diagnostic tool&#46; This technique identifies patients with BESS or subdural collections &#40;apart from small ones in the convexity&#41; and rules out hydrocephalus primarily&#46; It can also&#44; to varying extents&#44; identify other abnormalities such as expansive conditions and parenchymal abnormalities&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">17&#44;18</span></a> Should a pathological finding be identified&#44; the study should be continued with magnetic resonance imaging &#40;MRI&#41; or computed tomography &#40;CT&#41;&#46; CT is the modality of choice if the patient is clinically unstable or to study bone abnormalities&#44; such as dysplasias&#46; MRI&#44; given its excellent contrast resolution&#44; is the examination of choice in the remaining situations&#46; It carries the major advantage of not using ionising radiation&#44; although it could require the use of anaesthesia&#44; with the drawbacks that this entails&#46; Abbreviated MRI protocols&#44; based on acquisition of ultrarapid sequences&#44; represent a suitable alternative for the evaluation of patients with macrocephaly&#44; since they rule out abnormalities that require some sort of operation&#44; thus avoiding the use of anaesthesia&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10&#44;19</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The main entities that may present with macrocephaly will be briefly reviewed and an algorithm for their diagnosis will be proposed &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Benign swelling of the subarachnoid space</span><p id="par0040" class="elsevierStylePara elsevierViewall">One of the main causes of macrocephaly&#44; along with benign familial megalencephaly&#44; is BESS&#46; It may present with a rapid increase in head circumference in the first year of life&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a> Its pathophysiology is linked to lower cerebrospinal fluid &#40;CSF&#41; absorption&#44; due to either immaturity of the arachnoid villi or obstruction of venous drainage&#46; This leads to an accumulation of CSF&#44; resulting in skull distension and macrocephaly&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">20</span></a> Imaging shows characteristic enlargement of the frontal and temporal subarachnoid space&#44; affecting the convexity&#44; the anterior interhemispheric fissure and the Sylvian fissures&#46; There may also be a slight increase in the size of the frontal horns&#46; The echogenicity&#44; density and signal should be the same as in the CSF and should not cause a compression effect&#46; These findings normalise between two and three years and do not require radiological monitoring&#46;<a class="elsevierStyleCrossRefs" href="#bib0105"><span class="elsevierStyleSup">21&#44;22</span></a> In infants six to nine months of age&#44; US enables suitable evaluation of this entity&#46; To this end&#44; the width of the subarachnoid space should be measured on the coronal plane&#44; at the foramen of Monro&#46; The most commonly used measurements are the distance between the inner table and the cerebral cortex and the interhemispheric width&#46; The widths thereof vary with age but are always pathological when they exceed 10&#8239;mm&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a> Echogenic vascular structures that exhibit colour Doppler flow are characteristically identified in their thickness&#46; This allows them to be distinguished from subdural collections&#44; which lack these structures<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">A great deal of literature has suggested that patients with BESS may develop subdural haematomas spontaneously or in the event of mild head trauma&#44; explained by tearing of cortical veins which are found to be distended&#46;<a class="elsevierStyleCrossRef" href="#bib0120"><span class="elsevierStyleSup">24</span></a> This association&#44; however&#44; is uncommon&#46; Thus&#44; according to the latest consensus on abusive head trauma&#44; published in 2018 by Choudhary et al&#46;&#44; the presence of subdural haematomas in patients with BESS should raise suspicion of associated trauma&#44; including non-accidental trauma<a class="elsevierStyleCrossRefs" href="#bib0125"><span class="elsevierStyleSup">25&#8211;28</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46;</p><elsevierMultimedia ident="fig0020"></elsevierMultimedia></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Subdural collections</span><p id="par0050" class="elsevierStylePara elsevierViewall">Subdural haematomas&#44; in a context of non-accidental trauma &#40;NAT&#41;&#44; may cause macrocephaly&#46; In a recent study of 28 children with confirmed NAT&#44; 81&#37; had a HC in the 90th percentile or above&#44; and 69&#37; had a HC in the 97th percentile or above&#46; In fact&#44; in some children&#44; the only clinical sign of NAT was macrocephaly or a rapid increase in HC<a class="elsevierStyleCrossRefs" href="#bib0145"><span class="elsevierStyleSup">29&#44;30</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41;&#46;</p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Another entity that may co-occur with subdural haematomas and macrocephaly is glutaric aciduria type 1 &#40;GA1&#41;&#44; an inborn error of metabolism caused by deficiency of glutaryl-coenzyme A-dehydrogenase&#44; with deposition of organic acids in the brain&#46; Macrocephaly presents at birth or develops soon afterwards&#44; and is secondary to the presence of subdural collections and&#47;or megalencephaly&#46; The following are characteristic&#58; a greater width of the frontotemporal subarachnoid space and of the Sylvian fissures&#59; mild ventriculomegaly&#59; subdural collections&#59; and abnormalities of the basal ganglia&#44; especially abnormalities of the putamen and late abnormalities of the white matter&#46;<a class="elsevierStyleCrossRefs" href="#bib0155"><span class="elsevierStyleSup">31&#44;32</span></a> The differential diagnosis should include Menkes disease&#44; which typically presents with the triad of severe cerebral atrophy&#44; subdural collections due to tearing of cortical veins and tortuous cerebral vessels&#46;<a class="elsevierStyleCrossRefs" href="#bib0165"><span class="elsevierStyleSup">33&#8211;36</span></a></p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Hydrocephalus</span><p id="par0060" class="elsevierStylePara elsevierViewall">Hydrocephalus is a complication of various diseases in which the intraventricular CSF compartment is found to be enlarged&#46; It may be congenital or acquired&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">20</span></a> It is caused by an imbalance between CSF production and absorption or by obstruction of CSF flow&#46; If hydrocephalus is acute&#44; the skull does not have the time to expand&#44; and the patient presents signs and symptoms of intracranial hypertension&#46; By contrast&#44; if hydrocephalus develops gradually&#44; the skull is able to expand&#44; and the most consistent clinical finding is macrocephaly&#44; with a change in the growth curve&#46; Hydrocephalus is classified as <span class="elsevierStyleItalic">communicating</span> hydrocephalus when there is an obstruction in flow outside the ventricular system&#44; as in post-haemorrhagic or post-infectious hydrocephalus&#44; or there is overproduction of CSF&#44; as in choroid plexus tumour&#44; in which dilation of the entire ventricular system is observed&#46; <span class="elsevierStyleItalic">Non-communicating</span> hydrocephalus is due to obstruction of CSF flow within the ventricular system or at the outlet of the fourth ventricle&#44; and leads to ventricular dilation over the obstruction&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10&#44;20</span></a></p><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Communicating hydrocephalus</span><p id="par0065" class="elsevierStylePara elsevierViewall">Hydrocephalus occurs in 35&#37; of premature infants with germinal&#47;intraventricular matrix haemorrhage&#44; and 15&#37; of cases end up requiring a ventricular shunt&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> Germinal matrix haemorrhage is due to factors related to perinatal events and greater vessel fragility&#46; US is the initial study of choice&#44; since it enables evaluation of germinal matrix haemorrhage&#44; which presents as an echogenic focus in the caudothalamic groove&#44; with anterior extension&#44; as well as measurement and monitoring of the course of hydrocephalus&#46;<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> Subsequent MRI can be used to evaluate foci of bleeding in other locations that are difficult to evaluate on ultrasound&#44; such as the cerebellum&#44; and to more accurately evaluate parenchymal lesions associated with hypoxic&#8211;ischaemic damage&#46;<a class="elsevierStyleCrossRef" href="#bib0185"><span class="elsevierStyleSup">37</span></a> Ventricular enlargement is due not only to hydrocephalus secondary to intraventricular haemorrhage&#44; but also usually co-occurs with <span class="elsevierStyleItalic">ex vacuo</span> dilation due to periventricular white-matter damage &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>&#41;&#46; Intraventricular haemorrhage in full-term newborns is less common than in preterm newborns&#44; and may be due to coagulopathy&#44; dehydration&#44; hypoxic&#8211;ischaemic injury&#44; venous thrombosis&#44; infection or trauma&#46; Radiological findings will be related to the aetiology of the bleeding and will require a specific study depending on the case&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0070" class="elsevierStylePara elsevierViewall">Hydrocephalus may also be the result of a prenatal or postnatal infection&#44; usually due to leptomeningeal compromise&#46; The purulent contents that impede CSF circulation and inflammation of arachnoid granulations decrease CSF reabsorption&#44; and cause hydrocephalus&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Non-communicating hydrocephalus</span><p id="par0075" class="elsevierStylePara elsevierViewall">Aqueductal stenosis &#40;AS&#41; is the cause of approximately 20&#37; of cases of congenital hydrocephalus&#44; which usually present with macrocephaly&#44; often as a sole clinical finding&#46; AS is a generic term applied to all aqueduct obstructions&#44; whose aetiologies are multiple and include both genetic and acquired forms&#46;<a class="elsevierStyleCrossRefs" href="#bib0190"><span class="elsevierStyleSup">38&#44;39</span></a> In radiological studies&#44; isolated AS presents as supratentorial ventricular dilation and a fourth ventricle of a normal size&#46; In addition to T1-weighted and T2-weighted conventional structural sequences&#44; it is highly advisable to obtain T2-weighted 3D sequences&#44; such as SPACE&#44; CUBE or VISTA&#44; which are sensitive to the pulsatile movement of CSF&#44; and gradient echo 3D sequences such as CISS&#44; FIESTA and DRIVE&#44; which are not sensitive to pulsatile CSF movement but offer excellent spatial resolution &#40;<a class="elsevierStyleCrossRef" href="#fig0035">Fig&#46; 7</a>&#41;&#46;</p><elsevierMultimedia ident="fig0035"></elsevierMultimedia><p id="par0080" class="elsevierStylePara elsevierViewall">Chiari malformation type 2 is the most common syndromic cause of hydrocephalus&#46; It consists of a complex spectrum of abnormalities of the brain and skull base&#44; almost invariably associated with a myelomeningocele&#46; It is characterised by a small posterior cranial fossa&#44; with hindbrain and cerebellar tonsil descent&#44; leading to obliteration of CSF flow&#44; which is what causes supratentorial hydrocephalus&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10&#44;40&#8211;43</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">Dandy-Walker malformation corresponds to a cystic malformation of the hindbrain&#46; Its most common clinical sign is macrocephaly in the first year of life&#46;<a class="elsevierStyleCrossRef" href="#bib0220"><span class="elsevierStyleSup">44</span></a> Radiological studies show an enlargement of the posterior fossa&#44; secondary to cystic dilation of the fourth ventricle&#44; torcular&#8211;lambdoid inversion&#44; cerebellar and vermian hypoplasia&#44; and cephalic vermian rotation&#46; It is associated with hydrocephalus in 70&#37;&#8211;90&#37; of cases&#46;</p></span></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Expansive conditions</span><p id="par0090" class="elsevierStylePara elsevierViewall">Just 5&#37;&#8211;10&#37; of brain tumours present with macrocephaly&#46; If children under four years of age alone are considered&#44; this percentage increases to 41&#37;&#44;<a class="elsevierStyleCrossRef" href="#bib0225"><span class="elsevierStyleSup">45</span></a> but&#44; in general&#44; it is uncommon for macrocephaly to present as an isolated symptom&#46; Tumours manifest primarily with signs of intracranial hypertension&#44; especially of the midline and posterior fossa&#44; and other neurological abnormalities&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10&#44;20</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Exceptions are desmoplastic infantile astrocytoma &#40;DIA&#41; and desmoplastic infantile ganglioglioma &#40;DIG&#41;&#44; which&#44; due to their near-invariably supratentorial location and non-aggressive nature&#44; reach large volumes&#44; resulting in an increase in HC&#44; which in some cases is the only clinical sign&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a> These are uncommon&#44; low-grade glioneuronal tumours that primarily affect infants&#46; They present as a usually frontal and parietal&#44; large-volume&#44; solid-cystic cortical lesion&#44; whose solid component is peripheral and heterogeneous and exhibits contrast uptake and enhancement&#44; often with leptopachymeningeal extension&#46; Oedema is usually limited or absent&#46;<a class="elsevierStyleCrossRef" href="#bib0230"><span class="elsevierStyleSup">46</span></a></p><p id="par0100" class="elsevierStylePara elsevierViewall">While uncommon&#44; choroid plexus tumours may also manifest clinically as macrocephaly secondary to hydrocephalus&#44; either resulting from overproduction of CSF or an abnormality in CSF reabsorption or due to a mass effect of the tumour and obstruction of CSF flow&#46; They are classified as choroid plexus papillomas &#40;CPPs&#41;&#44; grade I or II&#44; or as choroid plexus carcinomas &#40;CPCs&#41;&#44; grade III&#44; according to the World Health Organization&#46; They present as an intraventricular mass&#44; usually in the atrium&#44; with avid&#44; homogeneous enhancement&#46; They may show fluid voids due to hypervascularisation and punctiform foci of calcification or bleeding&#46;<a class="elsevierStyleCrossRefs" href="#bib0230"><span class="elsevierStyleSup">46&#44;47</span></a> CPCs are usually more heterogeneous&#44; with central necrosis&#44; bleeding and invasion of the adjacent brain parenchyma&#44; rimmed with oedema&#44; and more commonly show leptomeningeal dissemination&#46; However&#44; in most cases&#44; they are radiologically indistinguishable from CPPs<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0040">Fig&#46; 8</a>&#41;&#46;</p><elsevierMultimedia ident="fig0040"></elsevierMultimedia><p id="par0105" class="elsevierStylePara elsevierViewall">Less commonly&#44; macrocephaly may be secondary to a compression effect and resulting hydrocephalus of vascular abnormalities&#44; such as a vein of Galen aneurysmal malformation&#46; This abnormality is characterised by an arteriovenous shunt&#44; in which the choroid arteries supply a persistent embryonic vein&#44; a precursor to the vein of Galen&#44; known as a median prosencephalic vein&#46; This structure causes hydrocephalus as it compresses the cerebral aqueduct&#46;<a class="elsevierStyleCrossRef" href="#bib0240"><span class="elsevierStyleSup">48</span></a></p><p id="par0110" class="elsevierStylePara elsevierViewall">Arachnoid cysts correspond to congenital lesions consisting of a subarachnoid membrane&#44; whose contents maintain a similar echogenicity&#44; signal and density to CSF&#46; On occasion&#44; they may compress the ventricular system&#44; especially when they are subtentorial&#44; or they may be giant and cause macrocephaly&#46;<a class="elsevierStyleCrossRef" href="#bib0245"><span class="elsevierStyleSup">49</span></a></p></span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Megalencephalies</span><p id="par0115" class="elsevierStylePara elsevierViewall">Megalencephalies correspond to a larger brain parenchyma volume and may be benign &#40;familial&#41;&#44; dysplastic&#44; developmental&#44; or metabolic&#46;<a class="elsevierStyleCrossRef" href="#bib0250"><span class="elsevierStyleSup">50</span></a></p><p id="par0120" class="elsevierStylePara elsevierViewall">Benign familial megalencephaly refers to children who have an abnormally large HC&#46; Usually this characteristic is also present in at least one of their parents&#46; It is not associated with neurological abnormalities&#44; and it shows no radiological signs&#46;<a class="elsevierStyleCrossRef" href="#bib0255"><span class="elsevierStyleSup">51</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">Developmental megalencephalies are secondary to abnormalities in cell proliferation pathways&#59; the most common among them are the mTOR and Ras&#47;MAPK pathways&#44; affecting either cell replication or apoptosis&#44; leading to an increase in the number and&#47;or size of the neurons&#46; Patients present macrocephaly at birth&#44; which continues to increase in their growth curve&#46; Examples of developmental megalencephalies due to impairment of the mTOR pathway include tuberous sclerosis and classic hemimegalencephaly&#46; Among abnormalities due to impairment of the Ras&#47;MAPK pathway &#40;Rasopathies&#41;&#44; the most common is NF1&#46;<a class="elsevierStyleCrossRef" href="#bib0260"><span class="elsevierStyleSup">52</span></a></p><p id="par0130" class="elsevierStylePara elsevierViewall">Tuberous sclerosis complex is a neurocutaneous abnormality secondary to mutation of the TSC1 and TSC2 cell proliferation suppressor genes&#46; Macrocephaly is due primarily to megalencephaly&#44; but hydrocephalus may also be added due to obstruction of the foramina of Monro&#44; to subependymal nodules or to the development of subependymal giant-cell astrocytomas &#40;SEGAs&#41;&#46; Radial migration bands and cortical tubers are characteristic of this entity<a class="elsevierStyleCrossRefs" href="#bib0265"><span class="elsevierStyleSup">53&#44;54</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0045">Fig&#46; 9</a>&#41;&#46;</p><elsevierMultimedia ident="fig0045"></elsevierMultimedia><p id="par0135" class="elsevierStylePara elsevierViewall">Complete unilateral megalencephaly&#44; which affects an entire cerebral hemisphere&#44; corresponds to the classic definition of hemimegalencephaly&#46; At present&#44; it is recognised as a spectrum of disorders of hamartomatous overgrowth of all or part of one or both cerebral hemispheres&#46; They may be associated with cortical malformations&#44; in which case&#44; they are called dysplastic megalencephaly&#44; or with white-matter abnormalities&#44; abnormalities of midline structures or subtentorial compromise&#46;</p><p id="par0140" class="elsevierStylePara elsevierViewall">NF1 is the most common phakomatosis&#46; It is caused by mutation of the NF1 gene&#44; which codes neurofibromin&#44; involved in suppression of cell and&#47;or tumour proliferation&#46; Some 20&#37;&#8211;45&#37; of patients have macrocephaly&#44; which is essentially secondary to megalencephaly&#46;<a class="elsevierStyleCrossRef" href="#bib0275"><span class="elsevierStyleSup">55</span></a> Foci of signal abnormality in the basal ganglia&#44; internal capsules&#44; brainstem and cerebellum are characteristic&#59; they usually present before three years of age and remit during adolescence&#46;<a class="elsevierStyleCrossRef" href="#bib0280"><span class="elsevierStyleSup">56</span></a> These patients may develop optic nerve gliomas&#44; usually before nine years of age&#44; or&#44; less commonly&#44; gliomas in other locations&#46;<a class="elsevierStyleCrossRef" href="#bib0285"><span class="elsevierStyleSup">57</span></a></p><p id="par0145" class="elsevierStylePara elsevierViewall">Metabolic megalencephalies are secondary to inborn errors of metabolism and are characterised by abnormal deposits of metabolites in the brain parenchyma&#46; Unlike in developmental megalencephalies&#44; abnormalities are generally symmetrical and children are born with a normal HC&#44; but develop macrocephaly during their first few years of life&#46; They may be classified according to the metabolic pathway affected in organic acidurias&#44; such as GA1&#59; lysosomal abnormalities&#44; such as mucopolysaccharidosis&#59; and leukoencephalopathies that present macrocephaly&#44; such as Canavan disease&#44; Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts&#46;<a class="elsevierStyleCrossRef" href="#bib0250"><span class="elsevierStyleSup">50</span></a></p><p id="par0150" class="elsevierStylePara elsevierViewall">Mucopolysaccharidosis causes multisystem accumulation of glycosaminoglycans &#40;GSGs&#41; in the lysosomes of different tissues&#46; Macrocephaly occurs both due to megalencephaly secondary to GSG deposition in the brain parenchyma and due to hydrocephalus caused by GSG deposition in the meninges&#44; with lower CSF absorption&#46; Other radiological findings are dilation of the perivascular spaces&#44; with predominantly periventricular white-matter abnormalities and cortical atrophy&#44; as well as odontoid dysplasia&#44; with atlantoaxial instability and stenosis of the spine and medulla oblongata&#46;<a class="elsevierStyleCrossRefs" href="#bib0290"><span class="elsevierStyleSup">58&#44;59</span></a></p><p id="par0155" class="elsevierStylePara elsevierViewall">Alexander disease is a type of leukodystrophy caused by mutation of the GFAP gene&#44; and the phenotype that it expresses depending on the type of mutation&#46; The neonatal subtype of this disease classically presents with compromise of the white matter &#40;predominantly frontal&#41; and basal ganglia and periventricular abnormality hyperintense on T1-weighted sequences<a class="elsevierStyleCrossRefs" href="#bib0300"><span class="elsevierStyleSup">60&#44;61</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0050">Fig&#46; 10</a>&#41;&#46;</p><elsevierMultimedia ident="fig0050"></elsevierMultimedia><p id="par0160" class="elsevierStylePara elsevierViewall">Canavan disease is a disorder caused by <span class="elsevierStyleItalic">N</span>-acetylaspartate &#40;NAA&#41; accumulation in the brain parenchyma&#46; MRI findings are characteristic&#44; with extensive changes in the white matter&#44; featuring a centripetal pattern &#8212; that is&#44; first the more cortical white matter is affected and then the deeper white matter is affected&#46; Abnormalities in the subcortical grey matter may also be seen&#44; especially in the globus pallidus and thalamus&#46;<a class="elsevierStyleCrossRef" href="#bib0310"><span class="elsevierStyleSup">62</span></a> Spectroscopy shows a significant&#44; characteristic NAA peak&#46;<a class="elsevierStyleCrossRefs" href="#bib0315"><span class="elsevierStyleSup">63&#44;64</span></a> Macrocephaly usually occurs in children under one year of age&#46;<a class="elsevierStyleCrossRef" href="#bib0325"><span class="elsevierStyleSup">65</span></a></p><p id="par0165" class="elsevierStylePara elsevierViewall">In megalencephalic leukoencephalopathy with subcortical cysts&#44; there is a mutation in the membrane protein that regulates water flow&#44; with accumulation of interstitial water&#46; It presents as a diffuse&#44; homogeneous abnormality of white matter&#44; with subcortical cysts in the temporal poles and frontoparietal convexity&#46; Macrocephaly is very marked &#40;more than four to six SDs above the mean&#41;&#44; and the discrepancy between the severity of radiological abnormalities and clinical compromise is striking&#46;<a class="elsevierStyleCrossRef" href="#bib0330"><span class="elsevierStyleSup">66</span></a></p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Thickening of the cranial vault and&#47;or skull base</span><p id="par0170" class="elsevierStylePara elsevierViewall">Bone marrow expansion&#44; as in anaemia with rapid haematopoiesis&#44; or skeletal dysplasias such as achondroplasia or osteopetrosis&#44; can lead to an increase in HC&#46;</p><p id="par0175" class="elsevierStylePara elsevierViewall">Children with achondroplasia present marked macrocephaly at birth&#44; which progresses during the first year of life and is of multifactorial origin &#40;<a class="elsevierStyleCrossRef" href="#fig0055">Fig&#46; 11</a>&#41;&#46; On the one hand&#44; there is megalencephaly&#44; possibly due to the direct effect of a fibroblast growth factor receptor &#40;FGFR3&#41;&#59; on the other hand&#44; the foramen magnum and the jugular foramina are small&#46; The latter may obstruct CSF flow and venous drainage&#44; resulting in the onset of hydrocephalus&#44; which contributes to the increase in HC&#46;<a class="elsevierStyleCrossRefs" href="#bib0335"><span class="elsevierStyleSup">67&#44;68</span></a></p><elsevierMultimedia ident="fig0055"></elsevierMultimedia><p id="par0180" class="elsevierStylePara elsevierViewall">Osteopetrosis is a skeletal dysplasia that causes thickening and sclerosis of the cranial vault&#44; skull base and facial bones&#46; The most aggressive form is autosomal recessive or malignant infantile osteopetrosis&#46;<a class="elsevierStyleCrossRef" href="#bib0345"><span class="elsevierStyleSup">69</span></a> The thickening of the skull base leads to a reduction in the size of the foramen magnum and subsequent tearing&#44; which can cause hydrocephalus&#46; Enlargement of the cranial vault and hydrocephalus are involved in the development of macrocephaly&#44; which is often mild&#46;<a class="elsevierStyleCrossRefs" href="#bib0350"><span class="elsevierStyleSup">70&#44;71</span></a></p></span><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Conclusion</span><p id="par0185" class="elsevierStylePara elsevierViewall">Macrocephaly occurs when there is an increase in intracranial volume&#44; provided that this happens before the cranial sutures close&#44; gradually&#44; allowing the skull to expand&#46; A rapid increase in intracranial cavity volume presents as intracranial hypertension&#44; without macrocephaly&#46;</p><p id="par0190" class="elsevierStylePara elsevierViewall">The main causes of macrocephaly are benign familial megalencephaly and benign enlargement of the subarachnoid space&#59; these are non-pathological entities&#46; Less commonly&#44; macrocephaly is an expected component of clinical syndromes&#46; Neuroradiology studies are aimed at identifying children with macrocephaly who have disease that requires timely clinical&#47;surgical management&#44; such as hydrocephalus&#44; subdural collections and expansive conditions&#46;</p><p id="par0195" class="elsevierStylePara elsevierViewall">Patients with macrocephaly and risk factors such as neurological abnormalities&#44; neurocutaneous stigmata&#44; developmental delays or a rapid increase in HC require study with MRI or CT&#46; Patients without risk factors who have a parental history of macrocephaly require no radiological study&#59; however&#44; in the absence thereof&#44; we suggest an initial ultrasound study&#46; Limiting radiological study to these patients and using the appropriate radiological technique optimises resource use and reduces tests involving unnecessary radiation exposure&#46;</p></span><span id="sec0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Authorship</span><p id="par0200" class="elsevierStylePara elsevierViewall"><ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">1</span><p id="par0205" class="elsevierStylePara elsevierViewall">Responsible for study integrity&#58; VSG</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">2</span><p id="par0210" class="elsevierStylePara elsevierViewall">Study concept&#58; VSG</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">3</span><p id="par0215" class="elsevierStylePara elsevierViewall">Study design&#58; VSG</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">4</span><p id="par0220" class="elsevierStylePara elsevierViewall">Data collection&#58; not applicable</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">5</span><p id="par0225" class="elsevierStylePara elsevierViewall">Data analysis and interpretation&#58; not applicable</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">6</span><p id="par0230" class="elsevierStylePara elsevierViewall">Statistical processing&#58; not applicable</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">7</span><p id="par0235" class="elsevierStylePara elsevierViewall">Literature search&#58; VSG</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">8</span><p id="par0240" class="elsevierStylePara elsevierViewall">Drafting of the article&#58; VSG</p></li><li class="elsevierStyleListItem" id="lsti0045"><span class="elsevierStyleLabel">9</span><p id="par0245" class="elsevierStylePara elsevierViewall">Critical review of the manuscript with intellectually significant contributions&#58; AR</p></li><li class="elsevierStyleListItem" id="lsti0050"><span class="elsevierStyleLabel">10</span><p id="par0250" class="elsevierStylePara elsevierViewall">Approval of the final version&#58; LHR</p></li></ul></p></span><span id="sec0075" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Conflicts of interest</span><p id="par0255" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">Macrocephaly is a clinical term defined as an occipitofrontal circumference more than two standard deviations above the mean&#46; It is present in 5&#37; of children and is a common indication for imaging studies&#46; There are multiple causes of macrocephaly&#59; most of them are benign&#46; Nevertheless&#44; in some cases&#44; macrocephaly is the clinical manifestation of a condition that requires timely medical and&#47;or surgical treatment&#46; The importance of imaging studies lies in identifying the patients who would benefit from treatment&#46; Children with macrocephaly associated with neurologic alterations&#44; neurocutaneous stigmata&#44; delayed development&#44; or rapid increase of the circumference have a greater risk of having disease&#46; By contrast&#44; parental macrocephaly is predictive of a benign condition&#46; Limiting imaging studies to patients with increased risk makes it possible to optimize resources and reduce unnecessary exposure to tests&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Macrocefalia es un t&#233;rmino cl&#237;nico definido como el incremento de la circunferencia occipitofrontal por encima de dos desviaciones est&#225;ndar&#46; Se presenta en el 5&#37; de los ni&#241;os y es una indicaci&#243;n frecuente de estudios radiol&#243;gicos&#46; Existen m&#250;ltiples causas de macrocefalia&#44; que corresponden mayoritariamente a condiciones benignas&#46; Sin embargo&#44; en algunos casos es la manifestaci&#243;n cl&#237;nica de una patolog&#237;a que requiere una oportuna intervenci&#243;n m&#233;dico-quir&#250;rgica&#46; La relevancia del estudio radiol&#243;gico radica en la identificaci&#243;n de estos pacientes&#46; Aquellos ni&#241;os que se presentan con macrocefalia asociada a alteraciones neurol&#243;gicas&#44; estigmas neurocut&#225;neos&#44; retraso del desarrollo o r&#225;pido aumento de la circunferencia craneal poseen un riesgo aumentado de presentar patolog&#237;a&#46; Por el contrario&#44; el antecedente de macrocefalia parenteral es predictivo de una condici&#243;n benigna&#46; Acotar el estudio radiol&#243;gico a los pacientes de mayor riesgo permite optimizar recursos y disminuir la exposici&#243;n innecesaria a ex&#225;menes&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Schonstedt Geldres V&#44; Stecher Guzm&#225;n X&#44; Manterola Mordojovich C&#44; Rovira &#192;&#46; Radiolog&#237;a en el estudio de la macrocefalia&#46; &#191;Por qu&#233;&#63;&#44; &#191;cu&#225;ndo&#63;&#44; &#191;c&#243;mo&#63; Radiolog&#237;a&#46; 2022&#59;64&#58;26&#8211;40&#46;</p>"
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          "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Subdural collections as a cause of macrocephaly&#46;</span> A&#41; <span class="elsevierStyleBold">Non-accidental trauma&#46;</span> Despite the signs of atrophy of the brain parenchyma&#44; the voluminous subdural collections&#44; with blood contents&#44; led a to a gradual increase in head circumference&#46; Retinal haemorrhage&#44; detected in T2&#42; &#40;yellow arrow tip&#41;&#44; which is a significant element for diagnosis&#46; B&#41; <span class="elsevierStyleBold">Glutaric aciduria type 1</span>&#46; Bihemispheric blood collections&#44; brain parenchymal atrophy&#44; mild ventriculomegaly and a characteristic increased width of the Sylvian fissure are observed&#46;</p>"
        ]
      ]
      5 => array:8 [
        "identificador" => "fig0030"
        "etiqueta" => "Figure 6"
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          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A and B&#41; <span class="elsevierStyleBold">Intraventricular haemorrhage</span> in a premature newborn as a cause of communicating hydrocephalus&#46; Transfontanellar ultrasound shows blood contents in the caudothalamic groove&#44; with a cystic appearance&#44; in a later stage &#40;yellow arrow tips&#41;&#59; intraventricular blood contents &#40;orange arrow&#41;&#59; and severe hydrocephalus&#46; Magnetic resonance imaging confirms these findings and enables evaluation of parenchymal involvement &#40;green arrow tips&#41; and a focus of cerebellar haemorrhage &#40;green arrows&#41;&#46;</p>"
        ]
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      6 => array:8 [
        "identificador" => "fig0035"
        "etiqueta" => "Figure 7"
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          "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Non-communicating hydrocephalus as a cause of macrocephaly</span>&#46; A&#41; <span class="elsevierStyleBold">Aqueductal stenosis</span> as part of a complex brain malformation&#44; due to mutation of the L1CAM gene&#44; in a newborn with marked macrocephaly&#46; The image on the right corresponds to magnetic resonance cisternography&#44; based on steady-state gradient echo sequences&#46; It distinguishes two areas of narrowing of the aqueduct &#40;arrow tips&#41;&#46; B&#41; <span class="elsevierStyleBold">Chiari malformation type 2</span>&#46; Small posterior fossa and cerebellar tonsil descent &#40;yellow arrow tip&#41;&#44; leading to obstruction of cerebrospinal fluid and consequently hydrocephalus &#40;currently shunted&#41;&#46; Beaking of the tectal plate &#40;green arrow tip&#41; is characteristic&#46; C&#41; <span class="elsevierStyleBold">Dandy-Walker malformation</span>&#46; Enlargement of the posterior fossa with cystic dilatation of the fourth ventricle extending in a posterior direction&#46; There is elevation of the torcula &#40;green line&#41;&#44; vermian hypoplasia and cephalic vermian rotation &#40;yellow arrow&#41;&#46; It is commonly associated with other abnormalities&#44; as in this case&#44; with dysgenesis of the corpus callosum and aqueductal stenosis&#46;</p>"
        ]
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      7 => array:8 [
        "identificador" => "fig0040"
        "etiqueta" => "Figure 8"
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        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
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        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0040"
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          "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Examples of intracranial expansive conditions that may present with macrocephaly</span>&#46; A&#41; <span class="elsevierStyleBold">Choroid plexus papilloma</span>&#46; An intraventricular neoplastic lesion is seen in the left temporal horn&#46; It is slightly heterogeneous and exhibits avid enhancement with contrast&#46; It causes communicating hydrocephalus due to overproduction and lower reabsorption of cerebrospinal fluid &#40;CSF&#41;&#46; Courtesy of Dr Francisco Sep&#250;lveda&#44; Santiago&#46; B&#41; <span class="elsevierStyleBold">Arachnoid cyst</span> in the posterior fossa&#46; Formation of a voluminous cyst is identified&#46; This cyst shows the same signal as the CSF&#44; expands and remodels the adjacent cranial vault&#44; compresses the cerebellar parenchyma &#40;yellow arrow tip&#41; and obstructs the flow of CSF at the foramen magnum and fourth ventricle&#44; resulting in supratentorial hydrocephalus&#46; C&#41; <span class="elsevierStyleBold">Vein of Galen aneurysmal malformation</span>&#46; A prominent median prosencephalic vein &#40;yellow arrow&#41; is seen compressing the cerebral aqueduct and causing supratentorial obstructive hydrocephalus&#46; Tortuous choroidal arteries &#40;orange arrow&#41; are characteristic&#46; Intraventricular blood remnants are also seen&#59; these could also contribute to hydrocephalus &#40;green arrow&#41;&#46;</p>"
        ]
      ]
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        "etiqueta" => "Figure 9"
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          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Examples of developmental megalencephaly</span>&#46; In this disease group&#44; radiological findings are asymmetrical&#46; A&#41; <span class="elsevierStyleBold">Neurofibromatosis type 1</span>&#46; High-signal foci in T2 &#40;FOCI&#41; in the right globus pallidus and cerebral peduncle &#40;yellow and green arrow tips&#44; respectively&#41;&#46; Thickening of the right optic nerve&#44; without contrast enhancement&#44; consistent with an optic pathway glioma&#44; is also observed &#40;orange arrow&#41;&#46; B&#41; <span class="elsevierStyleBold">Dysplastic complete unilateral hemimegalencephaly</span>&#46; Enlarged right cerebral hemisphere and lateral ventricle&#46; Extensive abnormalities of cortical development are also seen &#40;green arrow tip&#41;&#44; with subependymal heterotopic nodules &#40;yellow arrow tip&#41;&#46; C&#41; <span class="elsevierStyleBold">Tuberous sclerosis</span>&#46; In the T2-FLAIR sequence&#44; cortical tubers &#40;orange arrow&#41; and characteristic radial migration bands &#40;green arrow&#41; are observed&#46; In the contrast-enhanced T1-weighted sequence&#44; small&#44; non-obstructive subependymal nodules &#40;yellow arrow tips&#41; are seen&#46;</p>"
        ]
      ]
      9 => array:8 [
        "identificador" => "fig0050"
        "etiqueta" => "Figure 10"
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            "detalle" => "Figure 1"
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          "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Examples of metabolic megalencephaly</span>&#46; In this disease group&#44; radiological findings are generally symmetrical&#46; A&#41; <span class="elsevierStyleBold">Alexander disease</span>&#46; An increase in the T2 signal of the predominantly frontal white matter &#40;green arrow&#41; and basal ganglia &#40;green arrow tips&#41; as well as periventricular T1 signal hyperintensity &#40;orange arrows&#41; are characteristic&#46; Courtesy of Dr Felice D&#39;Arco&#44; London&#46; B&#41; <span class="elsevierStyleBold">Canavan disease</span>&#46; Imaging in T2-weighted sequences exhibits extensive white matter signal hyperintensity and abnormalities in the basal ganglia&#46; Spectroscopy shows a significant&#44; characteristic N-acetylaspartate peak &#40;yellow arrow tip&#41;&#46; Courtesy of Dr Luis Filipe de Souza Godoy&#44; S&#227;o Paulo&#46; C&#41; <span class="elsevierStyleBold">Megalencephalic leukoencephalopathy with subcortical cysts</span>&#46; In T2-weighted sequences&#44; an extensive signal hyperintensity of the white matter is observed&#44; in a diffuse and homogeneous form&#46; Frontal subcortical cysts &#40;not shown&#41; and temporal subcortical cysts &#40;white arrow&#41; are recognised&#46; Courtesy of Dr Felice D&#39;Arco&#44; London&#46;</p>"
        ]
      ]
      10 => array:8 [
        "identificador" => "fig0055"
        "etiqueta" => "Figure 11"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
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        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0055"
            "detalle" => "Figure 1"
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        "descripcion" => array:1 [
          "en" => "<p id="spar0055" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Skeletal dysplasias as a cause of macrocephaly</span>&#46; A&#41; <span class="elsevierStyleBold">Achondroplasia</span>&#46; Plain X-ray of the entire body showing marked macrocephaly&#44; with no skull-base compromise&#46; Sagittal T2-weighted MRI shows that the foramen magnum is small and obstructs the flow of cerebrospinal fluid&#44; contributing to hydrocephalus&#44; which is mild&#46; B&#41; <span class="elsevierStyleBold">Osteopetrosis</span>&#46; Marked thickening of the cranial vault and skull base and moderate hydrocephalus are observed&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
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                      "autores" => array:1 [
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es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos