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Case report


A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus.

Heena RajaniShabnam Bhandari GroverNeha AntilAmit Katyan
Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
Date of Submission: 12-Jul-2018, Date of Acceptance: 24-Sep-2018, Date of Web Publication: 15-Nov-2018.
Corresponding Author:
Corresponding Author

Shabnam Bhandari Grover

E‑81, Kalkaji, New Delhi ‑ 110 019, India.
E-mail: shabnamgrover@yahoo.com

Corresponding Author:
Corresponding Author

Shabnam Bhandari Grover

E‑81, Kalkaji, New Delhi ‑ 110 019, India.
E-mail: shabnamgrover@yahoo.com

DOI: 10.4103/jcis.JCIS_56_18 Facebook Twitter Google Linkedin

ABSTRACT


We report the characteristic neuroimaging features of a rare metabolic leukodystrophy in an 8-year-old boy, born of consanguineous parenthood. The child presented with macrocrania, regression of milestones, and dystonia. The patient was referred for magnetic resonance imaging with a clinical diagnosis of postmeningitic hydrocephalus. Imaging revealed ventriculomegaly, diffuse brain atrophy, bilaterally symmetric widened sylvian fissure with temporal lobe hypoplasia, periventricular white-matter hyperintensities, and atrophy with hyperintensity in bilateral basal ganglia was also seen. These imaging features were signatory to arrive at a diagnosis of glutaric aciduria type 1. This disorder may mimic other neurological diseases such as postmeningitic hydrocephalus, which delays the diagnosis. Since early diagnosis and treatment can arrest progression, increased awareness about this condition among radiologists will certainly prevent erroneous diagnosis as had occurred in our patient.
Keywords: Glutaric aciduria type 1, hydrocephalus, macrocrania, magnetic resonance imaging

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