Researchers at Baskent University, Adana, and other centers in Turkey report a 3-month-old Turkish girl with Vici syndrome complicated by stridor and laryngomalacia. They also review the clinical features of 15 Vici syndrome patients published in the literature. The Turkish girl was the second child of consanguineous parents, she was admitted with bronchopneumonia, stridor, and failure to thrive, and examination revealed microcephaly, hypopigmentation of the skin, silvery hair, high-arched palate and micrognathia. Neurologic abnormalities included hypotonia, areflexia, cataracts, ocular albinism, and cranial MRI revealed agenesis of the corpus callosum, delayed myelination of cerebral white matter, and hypoplasia of the cerebellar hemisphere and brain stem. EEG showed paroxysmal, bifrontal discharges during sleep. Chest X-ray showed cardiomegaly, echocardiography demonstrated hypertrophic cardiomyopathy, and audiology exam revealed deafness in the left ear. The patient died of a recurrence of bronchopneumonia at 6 months of age.
Of the total 15 patients with Vici syndrome, 6 were girls and 9 boys, and 8 were siblings. Common manifestations include agenesis of the corpus callosum (100%), hypotonia (100%), developmental delay (100%), cerebellar and cortical defects (60%), cataracts (60%), seizures (60%), cardiomyopathy, hypopigmentation (albinism), recurrent infections, immunological abnormalities, and sensorineural hearing loss (20%). Vici syndrome should be considered in the differential diagnosis of an infant with agenesis of the corpus callosum. [1]
COMMENT. Vici syndrome is a rare phenotypically heterogeneous, autosomal recessive disorder of unknown cause. Also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum. The diagnosis is based on a cluster of clinical symptoms and MRI evidence of structural cerebral defects, typically agenesis of the corpus callosum. The prognosis is poor because of immunological abnormalities and recurrent severe infections. [2]