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Congenital unilateral absence of the lacrimal gland combined with lipoma. A rare case of unilateral congenital alacrima
Agenesia unilateral congénita de glándula lacrimal con sustitución por lipoma. Un caso raro de alacrimia congénita unilateral
J.L. Sánchez Sevilaa,
Corresponding author
sanchez.se@hotmail.com

Corresponding author.
, J. Rosas Gómez de Salazarb, L. Concepción Aramendíac, C. Vivó Devesaa
a Servicio de Oftalmología, Hospital Marina Baixa, Villajoyosa, Alicante, Spain
b Servicio de Reumatología, Hospital Marina Baixa, Villajoyosa, Alicante, Spain
c Servicio de Radiología, Hospital General Universitario de Alicante, Alicante, 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">Congenital alacrimy is a rare entity that causes keratoconjunctivitis sicca in children&#46; It can occur alone or in association with genetic disorders and systemic diseases such as association with achalasia and adrenal dysfunction&#44; autonomic neuropathies&#44; associated with other glandular abnormalities as well as multisystemic disorders&#46; It may also be associated with neurodevelopmental facial disorder with neurological disability&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Likewise&#44; this entity may have both autosomal dominant and recessive inheritance&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> A case of congenital tear gland agenesis is described in which a lipoma was found instead&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 7-year old female who debuted with eye symptoms &#40;itching&#44; eye discharge and redness&#41; from birth&#46; Her parents reported no tears in her right eye&#46; After several episodes classified as conjunctivitis&#44; the patient was diagnosed in the outpatient ophthalmology consultation with unilateral dry keratoconjunctivitis and treated with ocular lubricants &#40;sodium hyaluronate 0&#46;15&#37; &#43;&#8239;trehalose 3&#37; 1&#8722;2 drops 4&#8211;5 times a day&#44; and vitamin A night ointment&#41; and cyclosporine eye drops 0&#46;02&#37; 1&#8239;drop every 12&#8239;h with partial clinical improvement&#46; The girl was referred to the hospital ophthalmology service when a conjunctival tumour was observed in the superoexternal angle of the right eye&#44; orange and lumpy in colour&#44; occupying the area of the palpebral lobe of the lachrymal gland and extending into the conjunctiva &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Visual acuity was 20&#47;20 in both eyes&#46; The right eye exhibited conjunctival mucous secretion&#44; epithelial corneal erosions that were clearly shown in fluorescein &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41; and scarcity of corneal filaments&#46; Schirmer&#39;s test was performed under anesthesia and no wet filter paper strip was seen at 5&#8239;min and after removal of residual anesthetic fluid from the lower sac&#46; No abnormalities were found in the lacrimal excretory system&#46; The left eye was completely normal with a Schirmer test with 15&#8239;mm major anesthesia&#46; The patient&#39;s parents did not report a family history of similar disease&#46; The child had a sister whose eye examination was normal&#46; There were no symptoms of autonomous nervous system dysfunction such as dizziness or syncope&#44; difficulty swallowing or dry mouth&#46; In addition&#44; the patient did not exhibit heartburn or constipation&#46; Likewise&#44; the parents did not refer alterations in intellectual development and the patient did not have any episodes of hypoglycemia&#46; Dental examination was normal &#40;no microdontia was seen&#41;&#46; The patient was evaluated in the rheumatology consultation&#46; Pphysical examination and analytical tests ruled out rheumatological diseases and immunological or infectious disorders&#46; An orbital nuclear magnetic resonance &#40;MRI&#41; was performed which demonstrated the absence of the right lacrimal gland&#46; In its place&#44; a tumour with a signal intensity similar to subcutaneous fat was seen in all sequences and with suppression of signal by saturation techniques&#46; It did not show pathological enhancements after contrast&#44; its behaviour being compatible with lipoma&#46; The left lacrimal gland was normal &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>C&#44;D&#41;&#46; Silicone tear plugs were placed in the upper and lower tear holes&#44; but the upper plug was lost and the lower one had to be removed due to the patient intolerance&#46; Some changes were made to therapy with lubricants &#40;sodium hyaluronate 0&#46;15&#37; &#43;&#8239;trehalose 3&#37; &#43;&#8239;carbomere 0&#46;25&#37; in gel form 1-2&#8239;drops 4 times per day&#44; sodium hyaluronate 0&#46;4&#37; cross-linked with urea 1&#8722;2&#8239;drops 2&#8211;3 times a day and vitamin A night ointment&#41;&#44; continuing with cyclosporine eye drops 0&#46;02&#37; &#40;an attempt was made to increase this to 0&#46;05&#37;&#44; but the patient presented eye irritation&#41;&#46; Despite these changes&#44; the condition of the cornea did not improve with respect to the appearance shown in <a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0015" class="elsevierStylePara elsevierViewall">Congenital alacrimy is a rare disorder&#46; Sj&#246;gren<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> found only 14 cases described in the literature up to 1952&#46; The first case of unilateral congenital alacrimy was described in 1884 by Morton&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Although this alteration may occur in isolation and without documented hereditary origin&#44;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> family histories of similar processes should be investigated as both autosomal dominant and recessive hereditary cases have been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> Alacrimalism can occur both with lacrimal glands and with aplasia or hypoplasia thereof&#46; It is important to perform correct anamnesis and physical examination to rule out systemic disorders that may be associated with this disease&#46; Difficulty swallowing and hypoglycemia episodes indicate a possible association with achalasia and adrenal dysfunction &#40;also called Allgrove&#39;s syndrome&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The presence of dizziness&#44; syncopes and heartburn &#40;gastroesophageal reflux&#41; indicate an association of alacrimy with autonomic neuropathies&#46; The coexistence of dry mouth may indicate the association with aplasia or hypoplasia of salivary glands&#44; which also calls for a dental examination to rule out microdontia&#46; Chronic constipation indicates a probable association with Hirschsprung&#39;s disease within multisystemic disorders and delayed developmental milestones suggests an association with the neurologically impaired facial developmental disorder&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Rheumatology evaluation will assess association with immunological processes such as Sj&#246;gren&#39;s syndrome primarily in bilateral alacrimy&#46; In the present case&#44; systemic&#44; immunological and infectious alterations were ruled out&#46; Presentation with a conjunctival tumor at the level of the lacrimal gland palpebral lobe called for an imaging test to rule out benign or malignant tumor origin&#46; MRI with various fat saturation techniques&#44; in addition to avoiding the radiation involved in CT scans of special relevance to young children&#44; was effective in finding out the nature of the lesion studied&#46; In the present case&#44; the absence of a right lacrimal gland and its substitution by fat tissue with a highly suggestive image of lipoma was observed&#44; with the existence of a malignant tumour being very unlikely&#46; The presence of lipomas in the orbit was already a rare finding in the radiological spectrum of orbital pathologies in the region of the lacrimal gland and fossa&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Clinic cases of unilateral and bilateral congenital lachrymal gland agenesis have been published&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#8211;9</span></a> Unilateral lacrimal gland agenesis with contralateral gland hypoplasia has also been described&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> However&#44; this is the first documented case of unilateral agenesis with fat tissue replacement&#46; MRI with fat suppression techniques was fundamental for assessing the nature of the tumor that replaced the lacrimal gland&#46; However&#44; certainty diagnosis was histological through biopsy&#46; In the present case we did not consider its realization due to the very low probability of malignancy and the anesthetic implications when dealing with a young girl&#46; Silicone plug occlusion of the upper and lower lacrimal points has been shown to improve keratopathy in these patients&#44; suggesting that the accessory Krause and Wolfring lacrimal glands are functional&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#8211;9</span></a> In the present patient this treatment was not possible due to loss and intolerance of the plugs&#46; Cauterization and surgery of the lacrimal points are other alternatives for permanent occlusion of the lacrimal drainage system&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> Surgery was not considered for the lipoma because it did not produce ocular deviation or special discomfort to the patient&#44; these being produced fundamentally by the absence of lacrimal secretion&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors&#46;</p></span></span>"
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            0 => "Dry keratoconjunctivitis"
            1 => "Lacrimal gland absence"
            2 => "Nuclear magnetic resonance"
            3 => "Lipoma"
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            0 => "Queratoconjuntivitis seca"
            1 => "Agenesia gl&#225;ndula lagrimal"
            2 => "Resonancia nuclear magn&#233;tica"
            3 => "Lipoma"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">The purpose of this report is to describe a case of a unilateral congenital absence of the lacrimal gland in a 7-year-old girl with&#44; ocular symptoms&#44; no tear production&#44; and a conjunctival tumour at the supero-external angle of the right eye&#46; The visual acuity was 20&#47;20 in both the eyes&#46; The right eye showed mucous secretion&#44; corneal erosions&#44; and filaments&#46; Anamnesis&#44; physical examination and clinical tests ruled out systemic diseases associated with congenital alacrima&#44; as well as rheumatic&#44; immunological&#44; and infectious diseases&#46; Nuclear Magnetic Resonance&#44; with various fat suppression techniques&#44; demonstrated the absence of the right lacrimal gland and the presence of a tumour compatible with lipoma&#46; This case&#44; to our knowledge&#44; is the first report of unilateral absence of the lacrimal gland combined with lipoma&#46;</p></span>"
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      "es" => array:2 [
        "titulo" => "Resumen"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El prop&#243;sito de este art&#237;culo es describir un caso de agenesia lagrimal cong&#233;nita unilateral en una ni&#241;a de 7 a&#241;os con s&#237;ntomas oculares&#44; ausencia de secreci&#243;n lagrimal y una tumoraci&#243;n conjuntival en el &#225;ngulo supero externo del ojo derecho&#46; La agudeza visual era de 20&#47;20 en ambos ojos&#46; El ojo derecho presentaba secreci&#243;n mucosa&#44; erosiones y filamentos corneales&#46; La anamnesis&#44; exploraci&#243;n f&#237;sica y pruebas anal&#237;ticas descartaron enfermedades sist&#233;micas asociadas a la alacrimia cong&#233;nita&#44; as&#237; como enfermedades reumatol&#243;gicas&#44; inmunol&#243;gicas o infecciosas&#46; La resonancia nuclear magn&#233;tica con diversas t&#233;cnicas de supresi&#243;n grasa mostr&#243; la ausencia de gl&#225;ndula lagrimal derecha y la presencia de una tumoraci&#243;n compatible con lipoma&#46; Este caso&#44; para nuestro conocimiento&#44; representa la primera comunicaci&#243;n de una agenesia unilateral de gl&#225;ndula lagrimal combinada con un lipoma&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; S&#225;nchez Sevila JL&#44; Rosas G&#243;mez de Salazar J&#44; Concepci&#243;n Aramend&#237;a L&#44; Viv&#243; Devesa C&#46; Agenesia unilateral cong&#233;nita de gl&#225;ndula lacrimal con sustituci&#243;n por lipoma&#46; Un caso raro de alacrimia cong&#233;nita unilateral&#46; Arch Soc Esp Oftalmol&#46; 2021&#59;96&#58;48&#8211;51&#46;</p>"
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A&#41; Conjunctival tumour in the upper outer corner of the right eye&#44; orange and lumpy&#44; replacing the palpebral lobe of the lacrimal gland&#46; B&#41; Image of the right eye surface showing fluorescein-stained corneal epithelial erosions C&#41; <span class="elsevierStyleItalic">Short Tau Inversion Recovery &#40;</span>STIR&#41; coronal image of the orbital region showing asymmetric appearance of the upper outer angles of the orbit with hyposignal on the right side by cancellation of the fat signal in the area corresponding to the lipoma-substituted gland &#40;asterisk&#41;&#46; D&#41; Axial image through the upper margin of both orbits showing on the right side substitution of the normal gland by a well-defined crescent image with the same signal as the fat in the subcutaneous cellular tissue &#40;asterisk&#41;&#46;</p>"
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                          "etal" => true
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                            0 => "W&#46;S&#46; Jung"
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ISSN: 21735794
Original language: English
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es en pt

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