Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromusc

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Zhonghua Er Ke Za Zhi. 2006 Dec;44(12):909-12.

Diagnostic value of muscle, sural nerve and skin biopsies in

childhood neuromuscular disorders

Chang XZ, Zhou JY, Yuan Y, Wu Y, Li YX, Zhang W, Jiang YW, Bao XH,

Zhang YH, Wang S, Xiong H, Yang YL, Qin J.

Department of Pediatrics, First Hospital, Peking University, Beijing

100034, China.

OBJECTIVE: To elicit the usefulness of muscle, sural nerve and skin

biopsies in neuromuscular disease, including its diagnostic value

and indications for biopsy.

METHOD: The authors retrospectively evaluated the clinical data of

every patient who underwent muscle, sural nerve and/or skin biopsy

in the department between January 1999 and December 2004.

RESULT: One hundred and two patients with the suspected

neuromuscular diseases were included. Muscle disease or hereditary

metabolic/degenerative diseases with muscular injury were suspected

in 82 patients, specific or typical histological findings confirmed

diagnosis in 33 of these patients. The diagnosis included muscular

dystrophies in 13 patients; inflammatory myopathies in 4 patients;

congenital centronuclear myopathies in 2 patients; vacuole myopathy

in 1 patient; mitochondrial myopathies in 8 patients; lipid storage

myopathy in 1 patient; glycogenosis in 1 patient; spinal muscular

atrophy in 3 patients.

Nonspecific changes were seen in 25 patients, and in 24 patients

nothing abnormal was revealed. Neuropathy or hereditary

metabolic/degenerative diseases with peripheral nerve injury were

suspected in 23 patients, specific or typical histological findings

confirmed diagnosis in 10 of these patients, including hereditary

motor and sensory neuropathy in 9 patients and metachromatic

leukodystrophy with peripheral nerve abnormality in 1 patient.

Nonspecific changes were seen in 11 patients and 2 patients had

normal sural nerve. Skin biopsies were performed in 8 patients,

specific or typical histological findings confirmed diagnosis in 4

of these patients. The diagnosis included neuronal ceroid

lipofuscinosis in 2 patients, infantile axonal dystrophy in 1

patient, vacuole lysosomal disease in 1 patient, and 4 patients had

normal skin biopsy.

CONCLUSION: Muscle, sural nerve and skin biopsies play an important

role in diagnosis of childhood neuromuscular disease, and should be

done only in carefully selected cases after thorough clinical work-

up. Muscle biopsy is essential for diagnosis of congenital and

metabolic myopathies. Typical pathologic alterations of sural nerve

have diagnostic value for hereditary neuropathies. Skin biopsy

should be performed to verify neuronal ceroid lipofuscinosis.