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|LETTER TO EDITOR
|Year : 2022 | Volume
| Issue : 2 | Page : 801-802
Glutaric Aciduria Type 1: An Atypical Presentation
Ashish K Simalti, Jyotindra N Goswami
Department of Pediatrics, Army Hospital (Research and Referral), Delhi Cantt, New Delhi, India
|Date of Submission||13-Apr-2020|
|Date of Decision||18-May-2020|
|Date of Acceptance||16-Jun-2020|
|Date of Web Publication||3-May-2022|
Dr. Jyotindra N Goswami
Department of Pediatrics, Army Hospital (Research and Referral), Delhi Cantt, New Delhi - 110 010
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Simalti AK, Goswami JN. Glutaric Aciduria Type 1: An Atypical Presentation. Neurol India 2022;70:801-2
Glutaric aciduria type 1 is a rare neurometabolic disorder associated with glutaryl-CoA dehydrogenase deficiency., Its hallmarks are macrocephaly and dystonia, and its presentations range from episodic encephalopathy and neuroregression to chronic progressive and asymptomatic variants. We present an atypical manifestation of glutaric aciduria type 1 to sensitize readers toward this entity.
An 18-month-old girl born to third-degree consanguineous parents presented with developmental delay. Her domain-wise best milestones included sitting with support, crude grasp, Babbling. There was no loss of any milestone and stranger anxiety. There was no loss of any milestone were normal, and. The child had occasional trunk arching and limb twisting when irritable. There was no history of seizures, abnormal breathing, or unconsciousness. Her antenatal/perinatal history were uneventful. The child was being managed earlier as a case of dystonic cerebral palsy. Her elder male sibling, normal till 9 months of age, had lost milestones following diarrhea and had subsequently succumbed to pneumonia at 1 year.
On examination, the child appeared self-absorbed. Her weight and length were normal and her head circumference was 44 cm (<-3 Z score, WHO [World Health Organization] reference). Parental head circumferences were normal. The child did not have dysmorphism or neurocutaneous markers. She had generalized hypotonia and intermittent limb and trunk dystonia. Her deep tendon jerks were brisk and plantars extensor.
Investigations including ABG (arterial blood gas), urine for reducing substances and arterial ammonia were unremarkable. Serum tandem mass spectrometry (TMS) revealed elevated glutaryl carnitine. Urinary gas chromatography mass spectrometry (GCMS) revealed elevated glutaric and 3-hydroxyglutaric acid, glutarylcarnitine, and glutaconic acid levels. MRI (magnetic resonance imaging) brain revealed prominent subarachnoid spaces, open Sylvian fissures, and symmetrical T1 hypo/T2 hyperintense lesions over bilateral caudate nuclei, putamina, and globi pallidi with delayed myelination suggesting glutaric aciduria type 1 [Figure 1]a and [Figure 1]b. Clinical exome sequencing revealed a known mutation in GCDH gene confirming the diagnosis. The child was managed with dietary modification, carnitine, trihexyphenidyl, and physiotherapy.
|Figure 1: (a) MRI brain (T1 weighted axial section) of index child; (b) MRI brain (T2 weighted axial section) of index child which reveal prominent subarachnoid spaces, open Sylvian fissures and symmetrical T1 hypointense, T2 hyperintense signals over bilateral caudate nuclei, putamina, and globi pallidi. There is delayed myelination as suggested by incomplete white matter ramification anteriorly with T1 hypointense and T2 hyperintense lesions in the bilateral subcortical frontal regions.|
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Microcephaly, seen in index child, is seldom reported in glutaric aciduria type 1. It may be hypothesized to reflect profound, early gray matter involvement. The case highlights the role of history taking and clinical examination in diagnosing neurometabolic disorders that may mimic cerebral palsy while also portraying an atypical presentation of glutaric aciduria type 1.
Declaration of patient consent
A full and detailed consent from the patient/guardian has been taken. The patient's identity has been adequately anonymized. If anything related to the patient's identity is shown, adequate consent has been taken from the patient/relative/guardian. The journal will not be responsible for any medico-legal issues arising out of issues related to patient's identity or any other issues arising from the public display of the video.
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Conflicts of interest
There are no conflicts of interest.
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