[Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports].
BACKGROUND
Pelizaeus-Merzbacher disease is an infrequent hypomyelinating disorder caused by alterations in the PLP1 gene, which leads to a fault in the axonal myelination of the oligodendrocytes in the central nervous system. Two forms have been reported, according to the severity of the presentation: connatal and classic. It is characterised by neonatal hypotonia, delayed psychomotor development, progressive spasticity predominantly in the lower limbs and nystagmus, with pyramidal and extrapyramidal signs and symptoms; the connatal form is far more severe. Magnetic resonance imaging shows diffuse hypomyelinating leukoencephalopathy, evoked potentials are usually altered and confirmation is obtained through a molecular study of the PLP1 gene.


METHODS
We present the cases of five paediatric patients, four of whom had the classic form and one with the connatal form. The clinical characteristics and complementary studies are described, and a concise review of the literature is carried out.


CONCLUSIONS
This disease has a progressive and almost unvarying course, which is the clinical key to be able to differentiate it from other entities such as infantile cerebral palsy, peripheral neuropathies or multiple sclerosis, among others, in addition to the characteristic neuroimaging findings. It is necessary to suspect this diagnosis and confirm alterations in the PLP1 gene with the aim of obtaining a real incidence of this entity, which is probably underestimated, like other leukodystrophies.
Instituto de Ortopedia Infantil Roosevelt, Bogota DC, Colombia.|Hospital Militar. Universidad Militar Nueva Granada, Nueva Granada, Colombia.|Hospital Militar Central, Bogota DC, Colombia.
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Espinosa
Instituto de Ortopedia Infantil Roosevelt, Bogota DC, Colombia.|Hospital Militar. Universidad Militar Nueva Granada, Nueva Granada, Colombia.|Hospital Militar Central, Bogota DC, Colombia.
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Mera-Solarte
Instituto de Ortopedia Infantil Roosevelt, Bogota DC, Colombia.|Hospital Militar. Universidad Militar Nueva Granada, Nueva Granada, Colombia.|Hospital Militar Central, Bogota DC, Colombia.
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Cote-Orozco
D001921:Brain; D005071:Evoked Potentials; D006801:Humans; D008279:Magnetic Resonance Imaging; D018991:Myelin Proteolipid Protein / Q000235:genetics; D059906:Neuroimaging; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000473:pathology
D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human