Presents with progressive dementia, spasticity, cortical blindness, deafness, hemiplegia, quadriplegia, ataxia, pyramidal signs, retrobulbar neuritis, and pseudobulbar palsy. Seizures. Onset in late childhood. [accessanesthesiology.mhmedical.com]

Patients may present with pendular eye movements (nystagmus) hypotonia pyramidal disease ataxia Genetics Pelizaeus-Merzbacher disease is the result of abnormalities of the proteolipidprotein (PLP1) gene locus at Xq22. [radiopaedia.org]

In dysmyelinating disorders such as PMD, normal myelination does not occur. [1] Two brothers (11-years-old and 10-years-old) presented to the pediatrics department with complaints of delayed development, ataxia, mental retardation, language impairment [pediatricneurosciences.com]

Although the clinical findings in the present cases resemble those of several recognized hereditary neurologic diseases, we believe the mode of inheritance and the distinctive electron microscopic findings on sural nerve biopsies may represent a new genetic [jamanetwork.com]

• Aspiration

  Other features include muscular hypotonia already noticeable at birth, mental retardation, seizures, coagulopathy, and dysphagia with recurrent aspiration. Congenital heart defects have been described. Life expectancy is approximately 6 months. [accessanesthesiology.mhmedical.com]

• Severe Clinical Course

  The course is usually protracted and it is often misdiagnosed as cerebral palsy. Connatal PMD is a rarer and more severe variant that begins at birth or in early infancy and has a more severe clinical course. [pediatricneurosciences.com]

• Localized Scleroderma

  The term scleroderma means "hard skin", which describes thickening of the skin from increased deposition of collagen. There are two types of scleroderma. Localized scleroderma affects the skin and musculoskeletal system. [btb.termiumplus.gc.ca]

• Renal Insufficiency

  Cockayne Syndrome: A complex congenital genetic disorder characterized by the association of dwarfism, deafness, microcephaly, facies similar to progeria syndrome, ataxia, photosensitivity and eye malformations, retinal atrophy, and renal insufficiency [accessanesthesiology.mhmedical.com]

(See Presentation and Workup.) [emedicine.medscape.com]

• Lymphocytic Infiltrate

  There was a diffuse interstitial fibrosis with some patchy lymphocytic infiltrate and frequent arteriolar hyalinosis. [btb.termiumplus.gc.ca]

National Center for Advancing Translational Sciences Home Browse by Disease Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease About the Disease Diagnosis & Treatment Living with the Disease [rarediseases.info.nih.gov]

A type of drug called corticosteroids is often used in the treatment of this condition. Other options to alleviate symptoms include physical and occupational therapy, and improved diet. [globalgenes.org]

Features favoring progressive disease include: large numerous plaques hyperintense T1 lesions Treatment and prognosis The aim of treatment is twofold: to curtail progression (disease-modifying agents) and symptomatic relief. [radiopaedia.org]

Regular physical medicine evaluations, bracing, and physical therapy, as well as other treatments for spasticity, may reduce or delay the need for surgical therapy. [emedicine.medscape.com]

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet. 2019;64:665-671. Margraf RL, et al. [rarediseases.org]

Prognosis is variable and depends on the pattern of disease a patient has (e.g. primary progressive carries a worse prognosis than relapsing-remitting). [radiopaedia.org]

Prognosis Individuals with connatal Pelizaeus-Merzbacher disease typically die of respiratory complications during childhood, but with attentive care, they can live into the third decade of life. [emedicine.medscape.com]

In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Pelizaeus-Merzbacher Disease In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Pelizaeus-Merzbacher [patient.info]

(See Etiology.) Severe Pelizaeus-Merzbacher disease is often fatal during the first decade of life, typically due to respiratory complications. (See Prognosis and Treatment.) [emedicine.medscape.com]

[…] various investigations (see McDonald diagnostic criteria for multiple sclerosis), including 19: typical history oligoclonal bands in CSF immunoglobulin G in serum abnormal visual evoked potential MR imaging lack of viable alternative diagnosis The exact etiology [radiopaedia.org]

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 2014 Feb 16. [QxMD MEDLINE Link]. Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, et al. [emedicine.medscape.com]

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol 2014;261:752–8. [4]. Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. [journals.lww.com]

In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Pelizaeus-Merzbacher Disease In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Pelizaeus-Merzbacher [patient.info]

Mutations that prevent any PLP1 from being made result in a syndrome (PLP1 null syndrome) that is usually milder than classic Pelizaeus-Merzbacher disease. [emedicine.medscape.com]

[…] interferon beta: inhibition of T-lymphocyte proliferation glatiramer acetate: immunomodulation teriflunomide (Aubagio®): reduces both T-cell and B-cell activation and proliferation dimethyl fumarate (Tecfidera®): immunomodulation fingolimod (Gilenya®): prevents [radiopaedia.org]

It also prevents secondary complications and improves the quality of life by improving the function of all developmental areas.[18] Unfortunately, no research has been reported on rehabilitation of patients with PMD. [journals.lww.com]

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 2003;53:354-65. PMID 12601703 45 Sima AA, Pierson CR, Woltjer RL, et al. [medlink.com]