Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance.
Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California 92103-8446, USA. mdelcampo@ucsd.edu
M
M
del Campo
B D
BD
Hall
A
A
Aeby
M C
MC
Nassogne
A
A
Verloes
C
C
Roche
C
C
Gonzalez
H
H
Sanchez
A
A
Garcia-Alix
F
F
Cabanas
R M
RM
Escudero
R
R
Hernandez
J
J
Quero
D000328:Adult; D061085:Agenesis of Corpus Callosum; D000417:Albinism / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome