Peripheral Nerve Disorders in the Neonate

Abstract

The diagnosis of peripheral nerve disorders in the neonate is challenging because of a wide range of conditions that can present with similar clinical features. The neonate with peripheral nerve disorders typically manifests generalized hypotonia with or without respiratory insufficiency. Diseases with lesions at various levels of the central or peripheral nervous system, as well as myriad systemic conditions, can all present with the same clinical features at birth. Neurophysiologic testing, appropriate genetic evaluation including detailed family history, cerebrospinal fluid analysis, and most importantly, careful neurologic examination and observation of the clinical course will help narrow down the differential diagnosis. This review aims to introduce representative forms of peripheral nerve disorders during the newborn period. We will discuss clinical features, how to differentiate between the disease entities, and the implications of early diagnosis and prognosis.

Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy

“…Early infantile-onset hereditary demyelinating neuropathies are commonly Dejerine–Sottas disease (DJS) and CHN. Although DJS represents hereditary demyelinating neuropathy presenting before 2 years of age, CHN reflects a defect in myelin synthesis rather than degeneration of pre-existing myelin manifesting at birth 3. Hereditary sensory and autonomic neuropathies (HSAN) types 2, 3, 4 and 5 can also present at birth.…”

“…Nerve biopsy in type 3 HSAN reveals a reduction in unmyelinated fibres with preservation of myelinated fibres. A nerve biopsy was not planned for our baby 3. In the era of genomic diagnostics, invasive tests are not preferred and are not routinely done.…”