Abstract

OBJECTIVE

The studies considering the clinical and histopathological features of childhood muscle disease are scarce in number worldwide. This study aims to examine the histopathologi- cal profile of the children’s muscle biopsies evaluated at the Behcet Uz Children’s Hospital (BUCH) and determine their correlation with clinical diagnosis.

METHODS

We retrospectively reviewed 323 children who underwent muscle biopsy examination between 2004 and 2011 at pathology laboratory of Izmir BUCH. All patients were clinically diagnosed as neuromuscular disorders and biopsy specimens were collected from 5 different centers of neurological disorders.

RESULTS

The mean age of the patients was 6.15 years (3 weeks-18 years). Only 22 cases (6.8%) were older than 14 and 39 (12.07%) were younger than twelve months. Spinal muscular atrophy (n=11; 28.2%) was the most common disease in the infantile group. Dystrophies were diagnosed in 148 (45.7%) patients and 102 of them were dystrophinopathies. Other disorders were 23 primary, 16 inflammatory and 19 metabolic/mitochondrial myopathies and 28 neuropathies. Seventy three (22.9%) patients had similarly affected family members. Consanguinity rate was 25.1%. Serum enzymes alterations, EMG pathologies and fiber type disproportion were deter- mined in 109 (33.7%), 188 (58.2%) and 85 (26.3%) of the patients respectively. There were statistical significant correlations between the types of disease and serum enzyme levels (p= 0.001), and age (p=0.015) of the patients.

CONCLUSION

The present study revealed the panorama of the childhood muscle diseases in wes- tern Turkey. We conclude that if avoidance from unnecessary diagnostic and therapeutic inter- ventions was desired, we must be aware of the limitation and diagnostic value of muscle biopsy evaluations in childhood muscle diseases.