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Case report
Anaesthetic implications in Von Recklinghausen disease: A case report
Implicaciones anestésicas en la enfermedad de Von Recklinghausen
Rosana Guerrero-Domínguez
Corresponding author
rosanabixi7@hotmail.com

Corresponding author at: Avda. Ramón Carande n.° 11, 4.° E, 41013 Sevilla, Spain.
, Daniel López-Herrera-Rodríguez, Jesús Acosta-Martínez, Ignacio Jiménez
MD, Anaesthetist, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Von Recklinghausen disease (VR) or neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by the propensity to form ectodermal and mesodermal tissue tumours,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> affecting primarily the nervous system and the skin.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Friedrich Recklinghausen identified the origin of the tumours in the nervous tissue in 1882.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a> The pathophysiology is characterized by a mutation of the NF1 gene located on chromosome 17q11.2, responsible for secreting neurofibromin, a protein that inhibits abnormal cell growth.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> The clinical spectrum of this disorder is quite broad, characterized mainly by skin neurofibromata and caf&eacute;-au-lait spots.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0010" class="elsevierStylePara elsevierViewall">We present a case of a 14-year-old patient with a personal history of VR and a surgical history of excision of a right hemicranial plexiform neurofibroma. No fibromas of the oral cavity or predictors of a difficult airway were found during airway exploration. The patient did not report dyspnoea, dysphagia or changes in voice tone that could suggest the presence of laryngeal fibromas. Additional tests included biochemistry, whole blood count, coagulation tests and a chest radiograph, all of which came back normal.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient presented important facial asymmetry as a result of multiple retroauricular neurofibromas that disfigured the face and made it impossible for him to use reading glasses. It was decided to excise the neurofibromas and attempt facial remodelling.</p><p id="par0020" class="elsevierStylePara elsevierViewall">After setting up the usual non-invasive monitoring using blood pressure, electrocardiogram, pulse oximetry (SpO<span class="elsevierStyleInf">2</span>) and neuromuscular blockade with TOF Watch<span class="elsevierStyleSup">&reg;</span> SX monitoring, a peripheral venous access was established on the back of the left hand. The anaesthetic induction was done using propofol 130<span class="elsevierStyleHsp" style=""></span>mg, fentanyl 120<span class="elsevierStyleHsp" style=""></span>¿g, and rocuronium 30<span class="elsevierStyleHsp" style=""></span>mg. There was no airway obstruction after induction during manual ventilation with a facial mask. Endotracheal intubation proceeded uneventfully and mechanical ventilation was instituted. Laryngoscopy did not reveal gross laryngeal fibromas. Sevoflurane at 1 MAC and fentanyl according to analgesic needs were used during anaesthetic maintenance. The procedure lasted 160<span class="elsevierStyleHsp" style=""></span>min (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and proceeded uneventfully.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">At the end of the procedure, the patient received metamizol 2<span class="elsevierStyleHsp" style=""></span>g, ondansentron 4<span class="elsevierStyleHsp" style=""></span>mg, atropine 0.6<span class="elsevierStyleHsp" style=""></span>mg and neostigmine 2<span class="elsevierStyleHsp" style=""></span>mg, and was extubated upon reaching a train-of-four value of 0.9. The patient was then taken to the post-anaesthetic care unit and had a favourable course.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">Neurofibromatosis (NF) is a congenital disease of the group of autosomal dominant neurocutaneous phakomatoses including also the tuberous sclerosis complex, the Hippel&#8211;Lindau syndrome and the basal-cell nevi syndrome.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> It is possible to distinguish two types of neurofibromatosis on the basis of the phenotypical and genetic characteristics: NF1 or VR and neurofibromatosis type 2 (NF2).</p><p id="par0035" class="elsevierStylePara elsevierViewall">The incidence of VR is 1 in every 2500&#8211;3300 births<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> and the prevalence is 1 in every 5000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Although it has a 100% penetrance,<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> expression varies<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a> with 50% of the patients having no family history,<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,7</span></a> which implies a spontaneous mutation.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Despite significant advances in molecular genetics<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">8,9</span></a> the diagnosis of VR is made when a series of clinical criteria are met (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">Caf&eacute;-au-lait spots are found in 95% of adults with VR.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Neurofibromas are the most characteristic lesion<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> representative of this disorder and they can be divided into three types depending on their clinical and histopathological characteristics<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a>: cutaneous (found in 95% of patients), nodular and plexiform neurofibromas. Plexiform neurofibromas are found in 30% of cases, causing severe body deformities.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> They may become malignant in 2&#8211;16% of cases<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> and they are the primary cause of morbidity and mortality.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Lisch nodules are present in 95% of cases. They may be associated with bone abnormalities, pheochromocytoma,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11,12</span></a> gut tumours,<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> carcinoid tumours, spinal or cerebral,<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> vertebral deformities, juvenile chronic myelogenous leukaemia,<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> and growth and mental retardation.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,15</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Neurofibromatosis Type 2 is diagnosed on the basis of a series of clinical criteria, defined by the presence of bilateral vestibular schwannomas leading to hearing loss,<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> cataracts, and central nervous system involvement, such as meningioma.</p><p id="par0060" class="elsevierStylePara elsevierViewall">VR poses a challenge to anaesthetists, including a potentially difficult airway, abnormalities of the spinal anatomy and peripheral neurofibromas;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> hence the need for a careful systemic assessment before selecting the anaesthetic technique.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Classically, general anaesthesia has been considered safer since the presence of intracranial neuromas or the existence of unknown spinal neuromas (up to 40%<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> of cases) may worsen the neurological picture when locoregional anaesthetic techniques are used,<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">17,18</span></a> with devastating consequences such as haematomas and paralysis.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> Gliomas, meningiomas, hydrocephalus, spinal tumours and spina bifida have been described in VR, discouraging the use of locoregional anaesthesia when these findings are present.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Macroglossia, abnormal formations in the tongue, pharynx, larynx<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> and even supraglottic plexiform fibromas<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> may prevent endotracheal intubation<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,19</span></a> and determine upper airway obstruction during anaesthetic induction. These lesions must be suspected after a detailed history and patient report of dysphagia, dysarthria, stridor and voice changes.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Facial malformations may result in facial asymmetry due to intraosseous involvement<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> and contribute to difficult ventilation when face mask and orotracheal intubation are used.</p><p id="par0075" class="elsevierStylePara elsevierViewall">Consequently, as anaesthetists we are required to perform a thorough assessment to identify difficult airway predictors, as well as an adequate interview designed to detect intraoral lesions.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> If a difficult airway is expected, awake fibre optic bronchoscopy intubation must be considered as the technique of choice.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Multisystem involvement in VR requires special attention to other potential intra-operative findings such as hypertension, which could be related with an unknown pheochromocytoma (up to 20%<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a> of patients with VR) or renal artery stenosis.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Other causes of pheochromocytoma that need to be ruled out include von Hippel-Lindau syndrome, multiple endocrine neoplasia Type 2B (MEN 2B) and paraganglioma syndromes.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">20</span></a> The finding of a pheochromocytoma mandates individualized pre-operative management in order to avoid life-threatening intra-operative hypertensive crises. Pre-operative blood pressure control is based on alpha receptor blockade using prazosin or phenoxybenzamine to replenish plasma volume and counteract the vasopressor effects of high catecholamine levels, followed by beta blockade.</p><p id="par0090" class="elsevierStylePara elsevierViewall">Other considerations include respiratory compromise with intrapulmonary fibromas and pulmonary fibrosis, and cardiovascular compromise with hypertrophic cardiomyopathy or mediastinal tumours compressing the superior vena cava, beside hypertension.</p><p id="par0095" class="elsevierStylePara elsevierViewall">The presence of scoliosis compromises cardiopulmonary function, leading to right ventricular failure.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Other anaesthetic considerations include epilepsy, carcinoid tumours and obstructive ureteral stenosis due to neurofibromas.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0100" class="elsevierStylePara elsevierViewall">Exceptionally, some cases have been described of altered sensitivity to neuromuscular blockers,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> giving rise to prolonged episodes of apnea of unexplained mechanism.<a class="elsevierStyleCrossRefs" href="#bib0095"><span class="elsevierStyleSup">19,21</span></a></p><p id="par0105" class="elsevierStylePara elsevierViewall">In summary, we reviewed the existing literature in order to avoid deleterious effects from our clinical anaesthesia practice because of the multi-organ involvement in a disease that may give rise to multiple perioperative adverse events.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Patient perspective</span><p id="par0110" class="elsevierStylePara elsevierViewall">The patient perceived the anaesthetic management as the most beneficial given the surgical intervention and the associated anaesthetic risks.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Informed consent</span><p id="par0115" class="elsevierStylePara elsevierViewall">The informed consent was obtained.</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Information disclosure</span><p id="par0130" class="elsevierStylePara elsevierViewall">Patient information has remained confidential.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Ethics committee</span><p id="par0125" class="elsevierStylePara elsevierViewall">The study was approved by the ethics committee.</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Funding</span><p id="par0135" class="elsevierStylePara elsevierViewall">We received no funding for this work.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflict of interest</span><p id="par0120" class="elsevierStylePara elsevierViewall">There is no conflict of interest.</p></span></span>"
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          "titulo" => "Introduction"
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    "fechaRecibido" => "2014-06-26"
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          "clase" => "keyword"
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            0 => "Neurofibroma"
            1 => "Neurofibromatoses"
            2 => "Anesthesia"
            3 => "Airway management"
            4 => "Cafe-au-Lait Spots"
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            0 => "Neurofibroma"
            1 => "Neurofibromatosis"
            2 => "Anestesia"
            3 => "Manejo de la vía Aérea"
            4 => "Manchas Café Con Leche"
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        "titulo" => "Abstract"
        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Von Recklinghausen disease or neurofibromatosis Type I (NF1) is an autosomal dominant disease with a wide spectrum of clinical manifestations. Neurofibromas are the characteristic lesions. This disorder is associated with important anaesthetic considerations, mainly when neurofibromas occur in the oropharynx and larynx, leading to difficult laryngoscopy and tracheal intubation. We describe the anaesthetic management of a patient with NF1 under general anaesthesia for facial neurofibroma excision. We performed a brief review of the literature with the aim of optimizing the anaesthetic management and reducing the number of complications associated with the systemic manifestations of this syndrome.</p>"
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      "es" => array:2 [
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        "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">La enfermedad de Von Recklinghausen (EVR) o neurofibromatosis tipo<span class="elsevierStyleHsp" style=""></span>I (NF1) es una enfermedad con herencia autos&oacute;mica dominante con un amplio espectro de manifestaciones cl&iacute;nicas. Los neurofibromas son las lesiones caracter&iacute;sticas. Este trastorno se asocia con importantes consideraciones anest&eacute;sicas, principalmente cuando los neurofibromas aparecen en la orofaringe y laringe, produciendo dificultades en la laringoscopia y en la intubaci&oacute;n endotraqueal. Describimos el manejo anest&eacute;sico de un paciente con NF1 bajo anestesia general para extirpaci&oacute;n de neurofibromas faciales. Hemos realizado un breve repaso de la literatura existente para optimizar el manejo anest&eacute;sico y reducir el n&uacute;mero de complicaciones asociadas con las manifestaciones sist&eacute;micas de este s&iacute;ndrome.</p>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Guerrero-Dom&iacute;nguez R, L&oacute;pez-Herrera-Rodr&iacute;guez D, Acosta-Mart&iacute;nez J, Jim&eacute;nez I. Implicaciones Anest&eacute;sicas en La Enfermedad de Von Recklinghausen. Rev Colomb Anestesiol. 2015;43:107&#8211;110.</p>"
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          "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Resection of multiple retroauricular neurofibromas.</p>"
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                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><tbody title="tbody"><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top"><span class="elsevierStyleBold">Diagnostic criteria for VR (NF1). It must include the following manifestations:</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">6 or more caf&eacute;-au-lait spots: 1.5<span class="elsevierStyleHsp" style=""></span>cm or larger in post-pubescent age, or 0.5 or larger in pre-pubescent age.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Two or more neurofibromas of any type, or 1 or more plexiform neurofibromas.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Axillary (Cowe&#39;s signs) and/or inguinal freckling.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Optic nerve glioma.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Two or more Lisch nodules (iris hamartomas).&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Distinctive bone lesion: sphenoidal dysplasia, or dysplasia or cortical thinning of the long bones.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">First-degree relative with NF1.&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
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          "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Diagnostic criteria for Von Recklinghausen disease (VR) or neurofibromatosis Type I (NF1).</p>"
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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