Peripheral neuropathy in Krabbe disease

Abstract

Peripheral neuropathy occurs very early in Krabbe disease and affects the nerves uniformly. Nerve conduction studies may provide a highly sensitive tool to screen this patient population.

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

“…Infants with EIKD typically present within the first months of life with progressive irritability, spasms upon noise stimulation, recurrent episodes of unexplained fever, blindness, and deafness. 166,169 The disease course is rapidly progressive, leading to frequent seizures, hyperpyrexia, hypersalivation, complete loss of social contact, and loss of bulbar functions. Death typically occurs within the first 2 years of age because of respiratory complications.…”

“…171 All patients with EIKD show abnormal nerve conduction studies (NCSs), whereas approximately 90% of patients with EIKD have abnormal brainstem auditory evoked responses (BAER), 65% have an abnormal electroencephalogram, and 53% have abnormal flash visual evoked potentials (VER). 169,172 In contrast, only a small percentage of patients with LOKD show abnormal neurophysiologic studies. 172 Cranial magnetic resonance imaging (MRI) may show demyelination of white matter without any sign of peripheral nerve involvement.…”

Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

“…Nerve conduction studies revealed a lengthdependent axonal neuropathy that remained stable over the course of follow-up and was thought to be related to her diabetes. There was no demyelinating neuropathy (normal motor conduction velocities in the arm, 51-56 m/s, and in the legs, 41-45 m/s), which is the typical pattern of peripheral nerve involvement in Krabbe disease (Siddiqi et al 2006). Lower extremity somatosensory evoked potentials revealed bilateral symmetrically delayed cortical responses (P40 latency 46.8-47.1 ms, normal<43.5 ms) with normal peripheral responses.…”

Childhood leukodystrophies: a clinical perspective

“…In Krabbe disease, the severity of abnormalities in NCS appears to correlate with clinical severity [10,11]. In general, NCS more frequently reveals abnormalities in symptomatic patients than evoked responses.…”