Pelizaeus disease Merzbacher like: About an observation
1 Neuropaediatrics and Neurometabolic Disease Unit, Paediatric II Department, Faculty of Medicine and pharmacy of Rabat, Rabat Children's Hospital, Ibn Sina University Hospital, Mohamed V University, Rabat, Morrocco.
2 Department of Metabolic Biochemistry and Disease. CHU Ibn Sina Rabat, Morrocco.
Case Study
World Journal of Advanced Research and Reviews, 2024, 22(01), 206–209
Article DOI: 10.30574/wjarr.2024.22.1.1024
Publication history:
Received on 11 February 2024; revised on 01 April 2024; accepted on 03 April 2024
Abstract:
Pelizaeus-Merzbacher disease (PM) is an X-linked leukodystrophy causing developmental delay, nystagmus, hypotonia, spasticity and variable intellectual deficit. Three forms are described according to age of onset and severity: neonatal forms (+ severe), classical form (moderate, first 2 months of life) and transient form (the least serious 2-3 years). Prevalence is estimated at 1/400,000.
We report the sighting of a 12-year-old and 8-month-old girl, with no significant history, from a non-indigenous marriage. Presents since the age of 5 months a bilateral horizontal nystagmus, myoclonia and a psychomotor retardation and whose examination revealed a pyramidal syndrome and a discreet hepatomegaly. The biological balance objectivéhyperlactatemie, hyperammoniémieet Chromatography of Amino Acids in urine showed an increase in glycine, alanine and tyrosine with Amino Acid chromatography in the blood and chromatography of Organic Acids normal. MRI brain objectified a demyelinating aspect of the white substance and atrophy of the corpus callosum. PEV pathological retina-cortical conduction, PEA altered left, Muscle biopsy absence of shredded red fibers and genetic study confirms PelizaeusMerzbacher disease like.
Given the difficulty in diagnosing PD and the risk of rapid worsening of symptoms depending on the age of onset, multidisciplinary management and regular follow-up is required.
Keywords:
Pelizaeus-Merzbacher; Leukodystrophy; Demyelination; Genetic Study
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