Abstract
A male infant cousin of a patient with “GM3 gangliosidosis” was born at 29 wks gestation to Jewish parents. The infant closely resembled his cousin with coarse facies, low hairline, low-set and posteriorly rotated ears, macroglossia, gingival hypertrophy, micragnathia, cleft palate, redundant nuchal skin, umbilical and inguinal hernias, mild hepatosplenomegaly, cryptorchidism, hypotonia then spasticity and seizures. Chromosome analysis, skeletal x-rays, bone marrow smear and urinary mucopolysaccharides, oligosaccharides, organic acids and aminoacids were normal. Measurement of multiple leukocyte lysosomal hydrolases showed normal activities. The patient died at 4 mons of age. At autopsy, the brain was small (473 g) and showed patchy demyelination, reactive gliosis, and glial and neuronal heterotopias throughout the CNS. Anomalous cerebellar extension around the ventral surface of the medulla was also present. The kidneys showed diffuse glomerulocystic disease with dilatation of Bowman's capsule. Biochemical analysis of brain showed decreased levels of myelin glycolipids. However, in contrast to the cousin with “GM3 gangliosidosis”, the concentration and pattern of brain gangliosides were normal. These findings, along with those reported from studies on a second, similarly affected, male cousin, indicate that the disease originally described as “GM3 gangliosidosis” should be re-classified as an X-linked dyshistogenetic syndrome of unknown etiology.
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Clarke, J., Qualman, S., Becker, L. et al. 809 GM3 GANGLIOSIDOSIS: RE-CLASSIFICATION AS AN X-LINKED DYSHISTOGENETIC SYNDROME OF UNKNOWN ETIOLOGY. Pediatr Res 19, 245 (1985). https://doi.org/10.1203/00006450-198504000-00839
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DOI: https://doi.org/10.1203/00006450-198504000-00839