title: Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals.
abstract: OBJECTIVE
  Muscle biopsy is a very important diagnostic test in the investigation of a child with suspected neuromuscular disorder. The goal of this study was to review and evaluate pediatric muscle biopsies during a 2-year period with focus on histopathology diagnosis and correlations with other paraclinic studies.
  
  
  METHODS
  We investigated 100 muscle biopsies belonging to patients with clinical impression of neuromuscular disorder. These patients have been visited consecutively by pediatric neurologists during 2010 to 2012. Samples were investigated by standard enzyme histochemical and immunohistochemical techniques.
  
  
  RESULTS
  Sixty-nine (69%) males and 39 (39%) females with a mean age of 5.7 years were evaluated. Major pathologic diagnoses were Muscular dystrophy (48 cases), Neurogenic atrophy (18 cases), nonspecific myopathic atrophy (12cases), congenital myopathy (6 cases), storage myopathies (4 cases) and in 6 cases there was no specific histochemical pathologic finding. EMG was abnormal in 79 cases. Degree of correlation between EMG and biopsy result was significant in children ≥ 2 years of age.
  
  
  CONCLUSIONS
  This study confirms the high diagnostic yields of muscle biopsy especially only if standard and new techniques such as enzyme study and immunohistochemistry are implemented. Also, we report 11 cases of Merosin negative congenital muscular dystrophy. This is the largest documented case series of Merosin deficient congenital muscular dystrophy reported from Iran.
authors.affiliation: Neuropathologist, Mofid Children Hospital and Myopathology Lab of Toos Hospital, Tehran, Iran.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipor
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Fakhredin
authors.initials: F
authors.lastname: Shariatmadari
authors.affiliation: Msc, Health Information Management Clinical Research Development Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Abdollah Gorji
authors.affiliation: Assistant Professor of Pediatric Surgery, Shahid Behehshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Rouzrokh
authors.affiliation: Professor of Pediatric Neurology, Pediatric Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Professor of Pediatric Neurology, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohamad
authors.initials: M
authors.lastname: Ghofrani
authors.affiliation: Professor of Pediatric Neurology, Pediatric Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Professor of Pediatric Neurology, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Moahammad Mehdi
authors.initials: MM
authors.lastname: Taghdiri
authors.affiliation: Assistant Professor of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hosein
authors.initials: H
authors.lastname: Delavarkasmaei
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmadabadi
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Kazem
authors.initials: MK
authors.lastname: Bakhshandeh Bali
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Nemati
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sasan
authors.initials: S
authors.lastname: Saket
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Assistant Professor of Pediatric Neurology, Pediatric Department, Isfahan University of Medical Sciencs, Isfahan, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Yaghini
authors.affiliation: Professor of Pediatric Neurology, Pediatric Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Professor of Pediatric Neurology, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed Hasan
authors.initials: SH
authors.lastname: Tonekaboni
keywords: Congenital myopathy; EMG; Merosin; Muscle biopsy; Muscular dystrophy