Disturbances of rapid‐eye‐movement sleep in 3 brothers with Pelizaeus‐Merzbacher disease

Abstract

The electrophysiological features of 3 brothers with the classic form of Pelizaeus-Merzbacher disease (PMD) were studied. Two consecutive overnight polygraphic sleep recordings indicated a gross distortion of rapid-eye-movement (REM) sleep for all patients. A lower than normal percentage of REM sleep in these patients was consistent with their retarded intellectual development, which supports current thinking that REM sleep may be a sensitive index of brain function integrity. Non-rapid-eye-movement (NREM) sleep, in contrast to reported findings in 1 patient with PMD, was uniformly characterized by distinct stages in which the electroencephalograms contained frequent vertex waves and spindles. Tests of peripheral nerve conduction velocity, acoustic brainstem reflexes, and visual and auditory evoked potentials did not indicate any abnormalities, nor did electroencephalograms obtained during wakefulness. One patient did have epileptiform spikes and spike waves recorded during an all-night EEG, an unusual finding in a child with cerebral white matter disease.

Magnetic Resonance Imaging of Inflammatory and Demyelinating White‐matter Diseases of Childhood

“…The MRI changes seen in our case are compatible but not specific: indeed, similar changes were seen in the two unclassified cases, whose clinical picture was totally different. There is evidence that CT is often normal during the first 15 years of life in Pelizaeus-Merzbacher disease (Niakan et al 1979, Statz et al 1981 and the MRI may be abnormal at an earlier age (Journel et al 1987), and thus provide earlier support for what is essentially a clinical diagnosis.…”

“…The MRI changes seen in subacute sclerosing panencephalitis were mild, probably because the children were scanned in the early stage of the disease. CT is almost always normal during the first months of the disease (Noetzel and Dodson 1983, Krawiecki et al 1984, Begeer et al 1986, although there is one report of diffuse brain swelling, with slitlike ventricles and no visible sulci (Pedersen and Wulff 1982). One to two years after onset, low-attenuation white-matter lesions begin to appear, and in the chronic stages there is often considerable cerebral and brainstem atrophy (Duda et al 1980, Krawiecki et al 1984.…”

Assignment of the Gene for Myelin Proteolipid Protein to the X Chromosome: Implications for X-Linked Myelin Disorders

“…The human X-linked disorder Pelizaeus-Merzbacher disease, which has many features suggestive of an inborn failure of myelination, may be analogous to the murine jp mutation (15). Affected male infants show signs of slowly progressive neurological disease.…”

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies

“…The available literature suggests that leukodystrophies disrupt many of the neurobiological mechanisms involved in sleep. 20,23,28,29 Damage to fibers in the white matter of the brain stem from the subceruleus nucleus in the dorsal pontine tegmentum or adjacent structures including the ventrolateral periaqueductal gray, preceruleus, locus ceruleus, pedunculopontine nucleus, and laterodorsal tegmental nucleus may lead to REM sleep behavior disorders, as seen in adult-onset autosomal dominant leukodystrophy. 28 Additionally, adults and children with blindness and/or vocal cord/upper respiratory compromise secondary to a leukodystrophy have been diagnosed with comorbid sleep disorders.…”

“…Sleep journal/diary 18 Test ferritin levels 19 Sleep study 23 In addition to presymptomatic tools: Consider gastrointestinal consult Management Sleep hygiene counseling 24 Treat any contributing medical/environmental factors 18 Behavioral interventions to improve sleep 18 Consider medication/supplements: melatonin first, avoid polypharmacy when possible 25,26 Take advantage of sedating side effects of medications indicated for other symptoms 27 neuropathic pain, gabapentin and pregabalin are commonly used. 61 Gabapentin appears to be an effective treatment, as suggested by a retrospective analysis performed with data from 22 children with symptoms similar to those seen in the leukodystrophies: severe impairment of the central nervous system and recurrent pain behaviors, including intermittent changes in muscle tone.…”