| Autor: |
Madhumita Nandi, Sumantra Sarkar, Tapan Dhibar |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Medical Journal of Dr. D.Y. Patil University, Vol 9, Iss 6, Pp 753-755 (2016) |
| Druh dokumentu: |
article |
| ISSN: |
0975-2870 |
| DOI: |
10.4103/0975-2870.194220 |
| Popis: |
We hereby describe a 7-month-old female baby, born to first-degree cousins, who was initially diagnosed as meningitis based on the features of seizures and dystonia with fever. Detailed review of brain imaging and high urinary 3-hydroxy (3-OH) glutaric acid level confirmed the diagnosis of glutaric aciduria Type I. There is a high probability of these cases getting misdiagnosed as meningitis. Persistent rigidity and dystonia precipitated by a febrile illness and the typical brain imaging picture are clues to the diagnosis of glutaric aciduria Type I, which can be confirmed by raised 3-OH glutaric acid level in body fluids. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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