Medical Journal of Dr. D.Y. Patil University (Jan 2016)

A rare inborn error of metabolism masquerading as meningitis

  • Madhumita Nandi,
  • Sumantra Sarkar,
  • Tapan Dhibar

DOI
https://doi.org/10.4103/0975-2870.194220
Journal volume & issue
Vol. 9, no. 6
pp. 753 – 755

Abstract

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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.

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