Classic Neuroimaging Features in a Case of Congenital Muscular Dystrophy [Fukuyama Variant] – a Rare Cause of Infantile Hypotonia in an Indian Male

Classic Neuroimaging Features in a Case of Congenital Muscular Dystrophy [Fukuyama Variant] – a Rare Cause of Infantile Hypotonia in an Indian Male

Dr.Sayema1*, Dr. Shaan Hassan2, Dr. Ibne Ahmad3,  Dr.Shagufta Wahab4

1Resident, Deptt. of Radiodiagnosis JNMCH, AMU, Aligarh.
2Resident, Deptt. of Surgery, JNMCH, AMU, Aligarh.
3Professor & Chairman, Deptt. of Radiodiagnosis JNMCH, AMU, Aligarh.
4Associate Professor. Deptt. of Radiodiagnosis JNMCH, AMU, Aligarh.

The aetiological diagnosis in an infant with hypotonia is a challenging task for a clinician due to variable and long list of differentials [1]. It could be due to an insult within the central nervous system (CNS)  or less commonly result from a peripheral defect at neuro-muscular level and other miscellaneous causes (rickets, hypothyroidism) [2]. Most commonly it is a central hypotonia where the muscular weakness is absent or not profound. In Indian scenario, it is mostly idiopathic central hypotonia, followed by HIE (cerebral palsy) [2]. In cases of cerebral palsy, neuro-imaging reveals the severity of affliction. The peripheral aetiologies like congenital myopathies, congenital myasthenia, infantile botulism etc. are rather rare occurrences.
Infants with congenital muscular dystrophy have muscular dystrophy, central neural affliction and  involvement of multiple systems (skeletal, cardiovascular, respiratory, ocular etc.). It is a rare disease with studies in Italian population showing point prevalence of 0.563 per 100,000 total population [3]. Unlike HIE, the affliction in CMD is multi-system and it is an inherited disease with variable penetration, the distinction between the two is important to a clinician for the management. CMDs generally have early fatal outcome. So, early diagnosis is important for prognostication, supportive treatment and genetic counselling. The neuro-imaging findings of CMD clearly stand out from the rest aetiologies and can guide a clinician to go in early , for an invasive test like muscle biopsy which is the gold standard diagnostic test .

Abbreviations: CMD(congenital muscular dystrophy), HIE (hypoxic-ischemic encephalopathy), EEG (electroencephalogram), DGC (dystrophin-glycoproteins complex).

Keywords: Infantile Hypotonia, Congenital Muscular Dystrophy, Cobblestone Lissencephaly, Fukuyama.

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Sayema, Shaan Hassan, Ibne Ahmad, Shagufta Wahab. Classic Neuroimaging Features in a Case of Congenital Muscular Dystrophy [Fukuyama Variant] – a Rare Cause of Infantile Hypotonia in an Indian Male. International Journal of Case Reports, 2020; 4:176. DOI: 10.28933/ijcr-2020-09-1405


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