title: A case report with the peculiar concomitance of 2 different genetic syndromes.
abstract: BACKGROUND
  Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far.
  
  
  METHODS
  An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period.
  
  
  METHODS
  Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy.
  
  
  METHODS
  The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting.
  
  
  RESULTS
  A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist.
  
  
  CONCLUSIONS
  This peculiar "double trouble" case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.
authors.affiliation: Neuromuscular 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.
authors.forename: Alberto
authors.initials: A
authors.lastname: Lerario
authors.forename: Irene
authors.initials: I
authors.lastname: Colombo
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Peverelli
authors.forename: Luisa
authors.initials: L
authors.lastname: Villa
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Susanna
authors.initials: S
authors.lastname: Esposito
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000534:rehabilitation; D001707:Biopsy, Needle; D002648:Child; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000534:rehabilitation*; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000534:rehabilitation*; D026741:Physical Therapy Modalities; D035583:Rare Diseases