Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.
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منابع مشابه
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.
BACKGROUND The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity. OBSERVATIONS We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis as...
متن کامللکه های مغولی و بیماری گانگلیوزیدوزیس نوع 1 (GM1) و مروری بر مقالات
Gangliosidosis GM1, is a lipid storage disorder due to deficiency of the lysosomal enzyme &beta-galactosidase. This deficiency leads to lysosomal accumulation of gangliosidosis GM1 to be, which contributes to swelling, cell damage and dysfunction of the organs. Gangliosidosis GM1a rare neurodegenerative disorder. Mongolian spots are significant clinical sign in some of the metabolic diseases, s...
متن کاملGM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
BACKGROUND GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of β-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret. PATIENT The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal gangl...
متن کاملNeuroimaging findings in late infantile GM1 gangliosidosis.
Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.
متن کاملPeripheral blood findings in GM1 gangliosidosis.
T his peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis. Cellulitis was diagnosed and successfully treated with antibiotics. This photomicrograph depicts the typical peripheral blood findings in GM1 gangliosidosis: a vacuolated lymp...
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ورودعنوان ژورنال:
- Neurology
دوره 83 17 شماره
صفحات -
تاریخ انتشار 2014