Abstract
Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings. Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy. Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.
Highlights
Vici syndrome was first described in 1988, in two brothers with agenesis of the corpus callosum (ACC), bilateral cataracts, cleft lip and palate, hypopigmentation of the skin and hair, combined immunodeficiency, and severe psychomotor retardation [1]
Two other siblings and two additional patients were described by del Campo et al [2]
The major clinical features shared by all patients were ACC, recurrent infections, hypopigmentation of the skin and hair, hypotonia, poor postnatal growth, and developmental delay
Summary
Vici syndrome was first described in 1988, in two brothers with agenesis of the corpus callosum (ACC), bilateral cataracts, cleft lip and palate, hypopigmentation of the skin and hair, combined immunodeficiency, and severe psychomotor retardation [1]. The patients died at ages 2 and 3 years from bronchopneumonia. The major clinical features shared by all patients were ACC, recurrent infections, hypopigmentation of the skin and hair, hypotonia, poor postnatal growth, and developmental delay. The two siblings, a brother and a sister, died at age 2 years and age 11 months due to myocardial failure and apnea, respectively. One male patient died at age 16 months following progressive deterioration of cardiac function, and the final patient, a female, was still living at age 3.5 years. Based on the presence of the clinical features in two siblings in two separate families, the pattern of autosomal recessive inheritance was established
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