Objective: To report on a case of glutaric aciduria type 1 misdiagnosed as an ischemic stroke because of atypical radiological signs and motor phenotype.

Background: Glutaric aciduria type 1 is an autosomal recessive disorder inconsistently responsible for elevation of urinary glutaric acid and 3-hydroxyglutarate. Dystonia and striatal lesions appear after metabolic stress with encephalopathic crisis, early in childhood(1).

Methods: A 7-year-old child was referred with left hemidystonia-hemiparesis. Symptoms onset was at eleven months when, admitted to hospital for a scheduled surgery, he became hypotonic, hyporesponsive following a pre-surgical drip. He presented vomiting and diarrhea, followed by a possible seizure and left hemiparesis, 48 hours later. After the episode, left hemiparesis installed with psychomotor regression of the developmental milestones. Based on the first MRI performed one year later, in his native country, he was diagnosed with ischemic stroke.

Results: In 2017, mild elevation of glutaric acid and higher elevation of 3-hydroxyglutarate were suggestive of glutaric aciduria type 1, confirmed by genetic analysis. MRI showed asymmetric, right side prominent T2-weighted hyperintense putaminal signal [figure1].

Conclusions: Metabolic disorders are mostly associated with bilateral radiological and clinical alterations. Hemidystonia with asymmetric striatal lesions is exceptionally related to GA1, thus, erroneous ischemic stroke diagnosis being made. Newborn screening available in certain countries represents the major advance in preventing severe evolution of the disease.

References: 1. Boy N, Mühlhausen C, Maier EM et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017 Jan;40(1):75–101.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-glutaric-aciduria-type-1-with-hemidystonia-and-asymmetric-radiological-findings-misdiagnosed-as-an-ischemic-stroke/