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| IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM | |||||||||||||||
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| VICI SYNDROME | |||||||||||||||
| Clinical Synopsis | |||||||||||||||
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| Clinical Features | |||||||||||||||
| Dionisi Vici et al. (1988) described 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The sibs suffered from severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. They died of bronchopneumonia at ages 2 and 3 years. In the 1 sib studied, skin anergy to recall antigens, profound depletion of T4-positive lymphocytes, and deficiency of serum IgG2 were demonstrated. Autopsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. No precisely similar cases were found. Del Campo et al. (1999) reported 4 more cases (including 2 sibs, a male and a female) of this disorder. Their patients had agenesis of the corpus callosum, oculocutaneous albinism, repeated infections suggestive of an immunodeficiency, cardiomyopathy, postnatal growth retardation, microcephaly, and profound developmental delay. The authors suggested that these cases confirmed the existence of this disorder, which they called Vici syndrome. Their finding of affected sibs of both sexes born to unaffected parents supported autosomal recessive inheritance. Autosomal recessive inheritance was supported by the report of Chiyonobu et al. (2002), who described a sister and brother with agenesis of the corpus callosum, albinism, and recurrent infections. Both also had cataracts and cardiomyopathy and were born to healthy and unrelated parents. They showed postnatal growth retardation, profound developmental delay, and hypotonia. The sister had recurrent infections and died of progressive heart failure at age 19 months. The brother was alive at age 6 months with mild cardiomyopathy, and had a single episode of acute bronchitis at age 3 months. Miyata et al. (2007) reported 2 sibs with Vici syndrome. Both developed cardiomyopathy with elevated serum B-type natriuretic peptide (NPPB; 600295) and partial response to beta-blockers. Both patients also developed renal tubular acidosis, a previously undocumented potential complication of the disorder. A sleep study including polysomnography indicated functional brainstem involvement. Although both patients had recurrent infections, neither had serologic evidence of immunodeficiency. Al-Owain et al. (2010) reported a male infant, born of distantly related Saudi parents, with Vici syndrome. At birth, he had poor sucking and feeding, with poor weight gain. Physical features included inverted triangular face, hypotonia with open mouth, mild ptosis, epicanthal folds, micrognathia, and high-arched palate. He also had axial hypotonia with mildly increased limb tone, bilateral cataracts, and optic neuropathy. Brain MRI showed agenesis of the corpus callosum, cerebellar and pontine hypoplasia, and delayed myelination. He had severe global developmental delay. He developed frequent recurrent infections, particularly with Pseudomonas and Klebsiella, associated with lymphopenia, although he had normal immunologic reactions to vaccination. Electrophysiologic studies showed severely reduced compound muscle action potentials and a myopathic pattern with pseudomyotonic discharges. Muscle biopsy showed marked variation in myofiber size, rare degenerative and regenerative fibers, internal nuclei, and vacuoles. Some small fibers were angular, suggesting a neurogenic component. The results of muscle studies were consistent with a myopathy due to a possible metabolic abnormality. Other features included left lung hypoplasia and left ventricular hypertrophy. The patient died of sepsis at age 9 months. The parents had 3 other children who died of a similar disorder, suggesting autosomal recessive inheritance. | |||||||||||||||
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