Title: Clinico-Radiological Diagnosis of Merosin Deficient Congenital Muscular Dystrophy- A Case Report
Authors: Dr Pai Ashutosh A, Dr Sutay Nita R., Dr Thakur Anand N.
DOI: https://dx.doi.org/10.18535/jmscr/v8i4.64
Abstract
Merosin Deficient Congenital Muscular Dystrophy (MDCMD) is a rare disorder reported in Indian literature. The following case highlights the importance of combined clinical and radiological approach for diagnosis of this condition. We report this 1 year old male child, born of 3rd degree consanguineous marriage, noticed to have delayed attainment of predominantly motor milestones with normal intelligence. There was history of admission for respiratory illness 15 days back. On examination, child was hypotonic, with globally decreased power and absent Deep Tendon Reflexes with no sensory deficits. Investigations revealed elevated Serum CPK levels. EMG NCS showed myopathy pattern. Brain MRI showed evidence of dysmyelination involving periventricular and subcortical white matter along the bilateral fronto-parietal lobes. Genetic testing revealed pathogenic variation in LAMA2 gene confirming diagnosis of MDCMD. Child given supportive physiotherapy and parents offered Genetic counselling.
Keywords: Merosin; Dystrophy; Cpk; Motor.
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