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Erschienen in:
22.05.2018 | Scientific Letter
Child with Isolated Motor Delay: Look at the Neuroimage
Erschienen in: Indian Journal of Pediatrics | Ausgabe 10/2018
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To the Editor: A 4-y-old boy, born to non-consanguineous parents, presented with isolated motor delay since infancy. He was born at term with an uncomplicated perinatal period. There was no history of loss of attained milestones or seizures. On examination, he had a motor age of 9–10 mo; normal cognitive, language and social milestones; normal head size; proximal muscle weakness, areflexia, bilateral contractures at elbow, wrist, knee and ankle joints. Birth and family history were unremarkable. Investigations revealed, mildly elevated serum creatine kinase (963 U/L) and bilateral diffuse white matter changes on magnetic resonance imaging (MRI) of the brain. Based on suggesting findings on the MRI brain (Fig. 1) and the detection of a homozygous nonsense variation in exon 2 of the LAMA2 gene (chr6:129371200; C > T) on next generation sequencing, a diagnosis of merosin deficient congenital muscular dystrophy (CMD) was concluded.
Fig. 1
Magnetic resonance images of brain. MRI axial T1-weighted a, T2-weighted b and FLAIR c, d images showing bilateral and symmetrical confluent changes involving deep white matter of cerebral hemispheres in the form of T2 and FLAIR hyperintensities, and T1 hypointensities. MRI coronal e and sagittal f T2-weighted images also depict similar imaging pattern but more widespread involvement extending up to subcortical U fibers
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