Congenital Amyelinating Neuropathy: A Neuropathology Case Report and Review of Prior Cases

Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy characterized by non-progressive weakness, areflexia, hypotonia, slow nerve conduction velocities, and hypo-, or in some cases, amyelination. Patients usually present in infancy and may die within the first several years of life, usually after infectious complication. Infantile CHN presents later and patients survive several years [1]. Biopsy in amyelinating neuropathies usually shows a diminution of axon numbers. The histological hallmark is striking absence of myelin around nearly all axons, some perhaps showing a few myelin lamellae [2]. The first reported case was published in 1969 by Lyon [3]. Subsequently, several cases have been reported that further describe the clinical and histopathological/ultrastructural features (Table 1). In most of the cases, patients were diagnosed within one year of life and died at an early age. Our patient was not known to have CHN until, at age 18, she had a muscle and sural nerve biopsy which provided the diagnosis.