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

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 diagnos...

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Detalles Bibliográficos
Autores principales: Rajani, Heena, Grover, Shabnam Bhandari, Antil, Neha, Katyan, Amit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251246/
https://www.ncbi.nlm.nih.gov/pubmed/30546934
http://dx.doi.org/10.4103/jcis.JCIS_56_18
Descripción
Sumario: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.