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NEUROIMAGE
Year : 2022  |  Volume : 70  |  Issue : 2  |  Page : 820-821

Neuroimaging in 3-methyl-crotonylglycinuria


1 Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India
2 Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India
3 Pediatric Neurology and Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India

Date of Submission09-Jul-2019
Date of Decision17-Jul-2019
Date of Acceptance06-Aug-2020
Date of Web Publication3-May-2022

Correspondence Address:
Dt. Soumya Sundaram
Pediatric Neurology and Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.344652

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How to cite this article:
Nambiar P, Vinayagamani S, Sundaram S. Neuroimaging in 3-methyl-crotonylglycinuria. Neurol India 2022;70:820-1

How to cite this URL:
Nambiar P, Vinayagamani S, Sundaram S. Neuroimaging in 3-methyl-crotonylglycinuria. Neurol India [serial online] 2022 [cited 2022 Jul 3];70:820-1. Available from: https://www.neurologyindia.com/text.asp?2022/70/2/820/344652




Two-year-old boy, born of second-degree consanguinity, had an uncomplicated birth and had achieved normal developmental milestones till 1½ years of age. He then presented with recurrent vomiting and altered sensorium followed by psychomotor regression and seizures without any obvious precipitating event. He was lethargic and had axial hypotonia with appendicular spasticity. His MRI brain showed T2W and FLAIR hyperintensities involving bilateral lentiform and caudate nuclei, and subcortical white matter [Figure 1]. Based on clinical and imaging findings, the differential diagnosis considered were Leigh disease, urea cycle defects, and organic acidemias. His urine spectrometric analysis revealed elevated 3-hydroxyisovaleric acid (22.45, cut off 6.10 mmol/mmol creatine) and 3-methyl-crotonylglycine (84.25, cut off 1.05 mmol/mmol creatine). The dried blood spot analysis showed high leucine/isoleucine (286.01, normal range 44–220 mmol/L) and 3-hydroxy-isovalerylcarnitine (28.31, normal range 0.03–0.65 mmol/L) levels, consistent with the diagnosis of 3-methyl-crotonylglycinuria (MCG).
Figure 1: MRI brain in 3-methyl-crotonylglycinuria. Axial T2 weighted MRI shows (a) Bilateral symmetrical lentiform and caudate nucleus hyperintensity with sparing of thalamus (b and c) Confluent and patchy subcortical white mater hyperintensity involving frontal and parieto occipital regions, with sparing of periventricular white mater (d) FLAIR image shows white mater and deep gray nuclei hyperintensity

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MCG is an autosomal recessive disorder of leucine metabolism due to methyl-crotonyl CoA carboxylase deficiency.[1] This disorder has variable clinical manifestations ranging from asymptomatic to acute metabolic decompensation (precipitated by infection or high protein diet).[2] Literature on the neuroimaging characteristics of MCG is limited. However, a few case reports of the late onset forms of MCG have shown T2W and FLAIR hyperintensities involving bilateral basal ganglia, brainstem or subcortical white mater in the acute phase, and gray and white matter atrophy with subdural hematomas on follow-up.[3] Children with onset during the early infantile period were reported to have leukodystrophic changes with poorer prognosis.[4]

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  References Top

1.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 2012;7:31.  Back to cited text no. 1
    
2.
Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, et al. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet 2001;68:334-46.  Back to cited text no. 2
    
3.
Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP. Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics 2018;38:912-31.  Back to cited text no. 3
    
4.
de Kremer RD, Latini A, Suormala T, Baumgartner ER, Laróvere L, Civallero G, et al. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis 2002;17:13-8.  Back to cited text no. 4
    


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