Case Report of International Journal of Case Reports
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 . 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) . 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) . 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 . 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.
How to cite this article:
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
1. Crawford TO. Clinical evaluation of the floppy infant. Pediatr Ann 1992;21(6):348-54
2. Dua T., Das M., Kabra M., et al: Spectrum of floppy children in Indian scenario. Indian Pedi-atr 2001;38: 1236-1243.
3. Alessandra Graziano, Flaviana Bianco, Eugenio Mercuri et al. Prevalence of congenital muscular dystrophy in Italy-A population study American Academy of Neurology, Neurology;2015 Mar 3; 84(9): 904-911. doi: 10.1212/WNL. 0000000000001303
4. Fenichel GM. The hypotonic infant. In: Fenichel GM, editor. Clinical Pediatric Neurology: A Signs and Symptoms Approach. 4th edn. Philadelphia: WB Saunders Company; 2001. pp. 149–69. [Google Scholar]
5. Paro-Panjan, D., & Neubauer, D. (2004). Con-genital Hypotonia: Is There an Algorithm? Journal of Child Neurology, 19(6), 439–442.
6. Leyenaar J, Camfield P,Camfield C; Paediatr Child Health. 2005 Sep; 10(7): 397–400 ; doi: 10.1093/pch/10.7.397[PubMed] [Google Scholar]
7. Crumrine PK. Degenerative disorders of the cen-tral nervous system. Pediatr Rev. 2001;22:370–9. [PubMed] [Google Scholar]
8. Falsaperla, R., Praticò, A.D., Ruggieri, M. et al. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr 42, 78 (2016).https://doi.org/10.1186/s13052-016-0289-9
This work and its PDF file(s) are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.