The evaluation of muscle biopsy findings in children with neuromuscular disorders

• DOI: 10.5222/buchd.2012.062
• Publication Date: 2013-03-02T12:26:03Z
• Authors: Gulden Diniz; Hulya Tosun Yildirim; Aycan Unalp; Mustafa Barutcuoglu; Orkide Guzel; Muzaffer Polat; Sabiha Ture; Figen Ozgonul; Gul Serdaroglu
• Keywords: 0301 basic medicine; 03 medical and health sciences; 3. Good health

Objective: The studies considering the clinical and histopathological features of childhood muscle disease are scarce in number worldwide. This study aims to examine profile children’s biopsies evaluated at Behcet Uz Children’s Hospital (BUCH) determine their correlation with diagnosis. Methods: We retrospectively reviewed 323 children who underwent biopsy examination between 2004 2011 pathology laboratory Izmir BUCH. All patients were clinically diagnosed as neuromuscular disorders specimens collected from 5 different centers neurological disorders. Results: mean age was 6.15 years (3 weeks-18 years). Only 22 cases (6.8%) older than 14 39 (12.07%) younger twelve months. Spinal muscular atrophy (n=11; 28.2%) most common infantile group. Dystrophies 148 (45.7%) 102 them dystrophinopathies. Other 23 primary, 16 inflammatory 19 metabolic/mitochondrial myopathies 28 neuropathies. Seventy three (22.9%) had similarly affected family members. Consanguinity rate 25.1%. Serum enzymes alterations, EMG pathologies fiber type disproportion determined 109 (33.7%), 188 (58.2%) 85 (26.3%) respectively. There statistical significant correlations types serum enzyme levels (p= 0.001), (p=0.015) patients. Conclusion: present revealed panorama diseases western Turkey. conclude that if avoidance unnecessary diagnostic therapeutic interventions desired, we must be aware limitation value evaluations diseases.