观察斑点和眼部斑点:GM1神经节脂质病

IF 0.5 Q3 Medicine

Journal of Pediatric Neurosciences Pub Date : 2022-01-01 DOI:10.4103/jpn.jpn_173_20

M. Samprathi, Sujata Saraogi, Subhashree Kar, Rashmiranjan Das

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Eyeing the spots and the spot in the eye: GM1 gangliosidosis

A meticulous clinical examination is indispensable in the diagnosis of neurometabolic disorders. We describe an 11-month-old girl with the classical “Hurler phenotype” who was referred to us with a diagnosis of mucopolysaccharidosis. But on “eyeing” the extensive Mongolian spots on the back and the cherry red spot in the eye, GM1 gangliosidosis were suspected and confirmed by enzyme assay. Examination of the fundus and the presence of extensive Mongolian spots can provide valuable clues to the diagnosis of metabolic disorders.

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来源期刊

Journal of Pediatric Neurosciences CLINICAL NEUROLOGY-

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Journal of Pediatric Neurosciences-JPN (ISSN 1817-1745) is official publication of the Indian Society for Pediatric Neurosurgery. The journal is published semiannually. Bibliographic listings: The journal is indexed with Caspur, DOAJ, EBSCO Publishing’s Electronic Databases, Excerpta Medica / EMBASE, Expanded Academic ASAP, Genamics JournalSeek, Google Scholar, Health & Wellness Research Center, Health Reference Center Academic, Hinari, Index Copernicus, OpenJGate, Scimago Journal Ranking, SCOLOAR, SCOPUS, SIIC databases, Ulrich’s International Periodical Directory