Merosin-de ficient congenital muscular dystrophy with cerebral white matter changes

A clue to its diagnosis beyond infancy

Sandeep Kumar, Shrikiran Aroor, Suneel Mundkur, Maneesh Kumar

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with preserved language and social milestones. Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase. Provisional diagnosis of congenital myopathy was entertained. We performed brain imaging to look for abnormalities associated with congenital muscular dystrophy even though there were only features of myopathy with normal mentation. An MRI of the brain revealed periventricular and subcortical white matter hyperintensities suggestive of leucoencephalopathy. Muscle biopsy findings were consistent with degenerative muscle changes and immunohistochemical staining for merosin was negative, thus confirming the diagnosis of merosin-deficient congenital muscular dystrophy. Supportive care in the form of physiotherapy was initiated. The family was offered genetic counselling in their second pregnancy and immunohistochemistry at 12 weeks confirmed the fetus to be affected, which was then terminated.

Original languageEnglish
JournalBMJ Case Reports
DOIs
Publication statusPublished - 06-03-2014

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Muscular Dystrophies
Laminin
Myotonia Congenita
Leukoencephalopathies
Muscles
Abnormal Reflexes
Muscle Hypotonia
Muscle Weakness
Genetic Counseling
Muscular Diseases
Creatine Kinase
Marriage
Neuroimaging
Fetus
Language
Immunohistochemistry
Staining and Labeling
Biopsy
Pregnancy
Brain

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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