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.
References
- Tomé FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R AcadSci III. 317:351–377. 1994.
- Kaye EM. Update on genetic disorders affecting white matter. PediatrNeurol2001;24:11–24.
- Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004;14:635–49.
- Kumar S, et al. Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. BMJ Case Rep 2014. doi:10.1136/bcr-2013-202684.
- Caro PA, Scavina M, Hoffman E, et al. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol 1999;20(2):324-6.
- Spyrou, J. Philpot, R. Foale, P. G. Camici, F. Muntoni. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J. 1998 Sep; 136(3): 474–476.
- Trevisan CP, Carollo C, Segalla P, et al. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry 1991;54:330-334.
- Mercuri E, Muntoni F, Berardinelli A, et al. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuro-pediatrics 1995;26:3-7.
- Pini A, Merlini L, Tome FMS, Chevallay M, Gobbi G. Merosin negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. Brain Dev 2016;18:316–322.
Corresponding Author
Dr Pai Ashutosh A
Department of Paediatrics, Grant Government Medical College and JJ Hospital, Byculla, Mumbai -400008, India
DOI: https://dx.doi.org/10.18535/jmscr/v8i4.64
