Korean J Pathol.  1998 Jul;32(7):535-539.

Ultrastructural Findings of Hereditary Sensory and Autonomic Neuropathies, Type IV and II

• Go JH
• Suh YL

Abstract

Hereditary sensory and autonomic neuropathies (HSAN) are disorders of hereditary neuropathy mainly affecting sensation and also accompanying autonomic nervous system dysfunction. They are divided into five subtypes based on inheritance pattern and clinical manifestation. Among HSAN, type II is characterized by autosomal recessive inheritance, presentation at later stage of life, slow progression and mainly sensation abnormalities. The main pathology of the peripheral nerve is the absence of myelinated nerve fibers. Type IV is very rare disorder and only a few cases have been reported. It is characterized by autosomal recessive inheritance, presentation at birth as failure to thrive, retarded motor development, unexplained pyrexia and rapidly progressive and severe clinical course. The main pathology of the peripheral nerve is a loss of unmyelinated and small myelinated nerve fibers. We report two cases of type IV and one case of type II especially focusing on ultrastructural findings, which are characteristic of and diagnostic for HSAN.

Keyword

Peripheral nerve; Hereditary sensory & autonomic neuropathy; Pathology; Ultrastructure

MeSH Terms

Autonomic Nervous System
Failure to Thrive
Fever
Hereditary Sensory and Autonomic Neuropathies*
Inheritance Patterns
Nerve Fibers, Myelinated
Parturition
Pathology
Peripheral Nerves
Sensation
Wills