545 Vici Syndrome Associated with Sensorineural Hearing Loss and Laryngomalasia

Background and Aims Vici syndrome is characterized by albinism, hypopigmentation, agenesis of the corpus callosum, catarats, immundeficeny, recurrent severe infections, hipertrophic cardiomyopathy and psychomotor retardation. To the best of our knowledge, this is the first reported case of a Turkish...

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Published in:Archives of disease in childhood 2012-10, Vol.97 (Suppl 2), p.A158-A159
Main Authors: Özkale, M, I˙, Erol, A, Gümüs¸, Özkale, Y, Kılıçaslan, B, Alehan, F
Format: Article
Language:English
Subjects:
Child Health
Medical Evaluation
Physical Examinations
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Summary:Background and Aims Vici syndrome is characterized by albinism, hypopigmentation, agenesis of the corpus callosum, catarats, immundeficeny, recurrent severe infections, hipertrophic cardiomyopathy and psychomotor retardation. To the best of our knowledge, this is the first reported case of a Turkish patient with Vici syndrome. Case report A 3 months-old girl admitted to our hospital for bronchopneumonia, stridor and failure to thrive. Physical examination revealed marked hypopigmentation of the skin with silvery hair, and dysmorphic features including highed-arched palate, micrognathia, generalize hypotonia, truncal ataxia with absense of deep-tendon reflexes (Figure 1). Ophthalmological examination revealed bilateral anterior subcapsular cataracs, and ocular albinism. Metabolic screening was normal. Magnetic resonance imaging of the brain showed agenesis of corpus callosum together with delayed myelinisation of cerebral white matter and hypoplasia of the cerebellar hemisphere and brainstem (Figure 2). Echocardiography was demonstrated hypertrophic cardiomyopathy. Odiological examination showed deafness on the left ears. Direct laryngoscopy was performed due to stridor and revealed laryngomalasia. She had immunological abnormalities including, decreased CD3+ (%38.1), CD3+/CD4+ (%31.1), CD3+/CD8+ (%7.2). Ceftriaxon and β-blocker were given for bronchopneumonia and cardiomyopathy. She had been lost due to broncopnomonia in an other hospital at the age of 6 months. Conclusion Vici syndrome is considered in the different diagnosis of infants presenting with congenital agenesis of the corpus callosum. As until now 14 patients with Vici syndrome were reported we want to draw attention to this rare syndrome. Abstract 545 Figure 1 Abstract 545 Figure 2
ISSN:0003-9888
1468-2044
DOI:10.1136/archdischild-2012-302724.0545