We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and 43 were women. We categorized them into five groups: specific diagnosis (66 cases, 53.2%), axonal degeneration type (47 cases, 37.9%), demyelinating type (4 cases, 3.2%), mixed axonal degeneration-demyelinating type (6 cases, 4.8%) and normal (1 case, 0.9%). Cases with specific diagnosis included 21 inflammatory demyelinating polyneuropathy (15 chronic inflammatory demyelinating polyradiculoneuropathy, 6 Guillain-Barre disease), 13 hereditary motor and sensory neuropathy (7 Charcot-Marie-Tooth type I, 6 Charcot-Marie-Tooth type II), 10 vasculitis, 6 toxic neuropathy, 4 leprosy, 3 diabetic neuropathy, 2 alcoholic neuropathy, 1 Fabry's disease and other specific diseases (5 cases). In our cases, the proportion of specific diagnoses was higher, while the proportion of demyelinating peripheral neuropathies and normal were lower than those of Western series. The results of this study indicate that 1) a dose clinicopathologic correlation is important to make a precise diagnosis of peripheral nerve biopsy, 2) Biopsy under strict indication may reduce unnecessary histologic examination, 3) There is no difference in disease pattern of peripheral neuropathy between Western people and Koreans.
Adult ; Biopsy ; Charcot-Marie-Tooth Disease/pathology ; Demyelinating Diseases/pathology ; Fabry Disease/pathology ; Female ; Hereditary Motor and Sensory Neuropathies/pathology ; Human ; Korea ; Leprosy/pathology ; Male ; Microscopy, Electron ; Nerve Fibers, Myelinated/pathology ; Peripheral Nerves/ultrastructure ; Peripheral Nerves/pathology ; Peripheral Nervous System Diseases/pathology* ; Peripheral Nervous System Diseases/microbiology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/pathology ; Sural Nerve/ultrastructure ; Sural Nerve/pathology*

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
Atrophy ; Case Report ; Fingers ; Human ; Hypohidrosis/pathology* ; Hypohidrosis/complications ; Infant ; Korea ; Male ; Mental Retardation/pathology ; Mental Retardation/complications ; Microscopy, Electron ; Nerve Fibers/ultrastructure ; Nerve Fibers/pathology ; Pain Insensitivity, Congenital/pathology* ; Pain Insensitivity, Congenital/complications ; Self Mutilation/pathology ; Self Mutilation/etiology ; Sural Nerve/pathology ; Tongue