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A case report with the peculiar concomitance of 2 different genetic syndromes

Alberto Lerario1, Irene Colombo, Donatella Milani

  • 1Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan Azienda Ospedaliera di Desio e Vimercate, Neurology Unit, Desio Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Dino Ferrari Centre, Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Medicine
|December 9, 2016
PubMed

Insights

This case report details a child with Down syndrome (DS) and Becker muscular dystrophy, a rare combination. Early physiotherapy helped maintain motor function, highlighting the need for muscle assessment in DS patients.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Down syndrome (DS) typically spares skeletal muscles.
  • Dystrophinopathies are genetic muscle disorders.
  • The coexistence of DS and dystrophinopathy is exceptionally rare.

Observation:

  • An 8-year-old boy with DS presented with incidentally elevated creatine kinase levels.
  • Neurological examinations over six months showed no motor delays or muscle weakness.
  • Muscle biopsy revealed dystrophic changes and patchy dystrophin immunostaining.

Findings:

  • Genetic analysis identified a splice-site mutation (c.1812+1G>A) confirming Becker muscular dystrophy.
  • This represents a rare co-occurrence of Down syndrome and a dystrophinopathy.
  • The patient received physiotherapy, preventing motor deterioration.

Implications:

  • Highlights the importance of assessing muscular strength in Down syndrome patients for accurate prognosis.
  • Emphasizes the need for careful clinical evaluation to diagnose coexisting genetic conditions.
  • Suggests tailored multidisciplinary care, including physiotherapy, is crucial for managing such complex cases.
Abstract

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