Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl
| Autor: | Rajni Farmania, Puneet Jain, Suvasini Sharma, Satinder Aneja |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Ataxia media_common.quotation_subject 03 medical and health sciences Congenital Disorders of Glycosylation 0302 clinical medicine medicine Humans Girl Child Stroke media_common business.industry Brain medicine.disease Magnetic Resonance Imaging Hypotonia 030104 developmental biology Phosphotransferases (Phosphomutases) Pediatrics Perinatology and Child Health Abnormal fat distribution Female Neurology (clinical) medicine.symptom Presentation (obstetrics) business Strokelike episodes Congenital disorder of glycosylation 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 34:410-414 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Strokelike episodes and seizures are known acute complications that usually occur on a background of developmental delay, ataxia, or dysmorphism. We report here a developmentally normal young girl who presented with isolated strokelike episodes and was diagnosed to have CDG Type Ia. This condition should be kept in the differentials of unexplained strokelike episodes in children. The diagnosis has important therapeutic and prognostic implications. |
| Databáze: | OpenAIRE |
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