GM1 gangliosidosis associated with multiple mongolian spots
Authors:
V. Urbanová 1; J. Behúnová 1; R. Petrovič 2; Ľ. Podracká 1
Authors‘ workplace:
I. Klinika detí a dorastu LF UPJŠ a DFN, Košice
prednostka prof. MUDr. Ľ. Podracká, CSc.
1; Ústav lekárskej biológie, genetiky a klinickej genetiky LFUK a UNB, Bratislava
prednosta doc. MUDr. D. Böhmer, PhD.
2
Published in:
Čes-slov Pediat 2012; 67 (4): 242-247.
Category:
Case Histories
Overview
The authors report a rare case of a 12-month old dysmorphic child with severe hypotonia, psychomotor retardation, significant hepatosplenomegaly and numerous, extensive mongolian spots. The patient presented with several congenital defects, such as critical coarctation of aorta, hypospadia and bilateral scrotal hernia. Child frequently suffered of severe bronchitis and bronchopneumonia with acute respiratory insufficiency requiring artificial ventilation.
Suspicion of gangliosidosis type I was supported by a „special“ clinical picture (extensive mongolian spots rapidly increasing in size and number, psychomotor retardation and hepatosplenomegaly) and it was confirmed by deficient activity of the lysosomal hydrolase, acid β-D-galactosidase. Moreover, abnormal urinary secretion of specific oligosaccharides was found suggesting GM1 gangliosidosis.
Key words:
GM1 gangliosidosis, mongolian spots, hepatosplenomegaly, coarctation of aorta
Sources
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2012 Issue 4
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