Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients

Laila Abdel Moteleb Selim, Dina Ahmed Mehaney, Fayza Abdel Hamid Hassan, Sawsan Abdel Hady Hassan, Iman Gamaleldin, Randa Sabry, Enrico Bertini

Research output: Contribution to journalArticlepeer-review


Congenital muscular dystrophies (CMD) are a group of heterogeneous inherited autosomal recessive disorders characterized by muscular weakness, hypotonia and contractures. The Merosin Negative CMD (MNCMD) is considered to be the most severe form and is usually associated with white matter abnormalities as seen with brain imaging. Merosin is also expressed in the nervous system and its deficiency could affect its development. This article describes the clinical picture, muscle biopsy findings and neuroimaging abnormalities of eight Egyptian Pediatric patients with the clinical presentation of merosin negative congenital muscular dystrophy. The leading clinical presentation in almost all patients was severe hypotonia, muscular weakness and failure to achieve motor developmental milestones, only Case 2 walked at 2 years of age. Mentality was normal in most patients with exception of Case 2 in whom scholastic achievement was poor and was associated with behavior abnormality. Serum Creatine kinase ranged from moderate to severe elevation, 536-3563 U/L, Electromyography demonstrated a myopathic pattern in all patients. Brain MRI showed extensive demyelination of the cerebral white matter in 6/8 patients with extension to cerebellar demyelination in Case 5. 5/8 patients underwent muscle biopsy for which immunofluorescence staining for merosin demonstrated complete deficiency of laminin α2 in Case 5 & partial deficiency of laminin α2 in Case 2.This report demonstrates the utility of Immunofluorescence staining as a guide to confirm the diagnosis of MDCMD especially when molecular diagnosis is not available.

Original languageEnglish
Pages (from-to)61-68
Number of pages8
JournalJournal of Genetic Engineering and Biotechnology
Issue number1
Publication statusPublished - Jun 1 2013


  • Congenital
  • Dystrophy
  • Genetic
  • Merosin
  • Muscular
  • Recessive

ASJC Scopus subject areas

  • Biotechnology
  • Genetics


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