Open AccessA rare inborn error of metabolism masquerading as meningitis
Author(s) -
Madhumita Nandi,
Sumantra Sarkar,
Tapan Dhibar
Publication year - 2016
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.194220
Subject(s) - glutaric acid , dystonia , meningitis , pediatrics , medicine , inborn error of metabolism , urinary system , chemistry , psychiatry , biochemistry
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