Abstract
BackgroundVici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations.Case presentationThe infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure.ConclusionThe accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.
Highlights
BackgroundVici syndrome (OMIM 242840) is a severe autosomal recessive multisystem disease characterized by agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and combined immunodeficiency
Vici syndrome is a severe inherited multisystem disease caused by mutations in the ectopic P-granules autophagy protein 5 homolog (EPG5) gene
Vici syndrome (OMIM 242840) is a severe autosomal recessive multisystem disease characterized by agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and combined immunodeficiency
Summary
Vici syndrome (OMIM 242840) is a severe autosomal recessive multisystem disease characterized by agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and combined immunodeficiency. The female sibling died due to severe acute bacterial meningitis Both deceased siblings had characteristic hypopigmented hair and skin, phenotypically matching our index infant but not the parents, the healthy 10-year-old brother, or other family members (Fig. 1). Following discharge from the NICU, he spent only 2 days at home and was readmitted for 20 days with fever and refusal of feeding His initial examination showed characteristic fair hair and skin with dysmorphic facial features including receding mandible and low-set ears. His anthropometric measures for weight and height were decreased for his age and sex: body weight = 3 kg (Z score = − 3.97), length = 55 cm (Z score = − 2), while head circumference = 38 cm (Z score = − 1.63). He died at the age of 15 months from acute respiratory failure due to extensive acute bacterial pneumonia
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