Presentation
[6] but milder variations may not present until childhood. [patient.info]
Upon presentation patients often have evidence of multiple previous asymptomatic lesions, and the diagnosis of multiple sclerosis can be strongly inferred. In other instances patients present with the first plaque. [radiopaedia.org]
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]
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]
Entire Body System
- Progressive Dementia
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]
Workup
(See Presentation and Workup.) [emedicine.medscape.com]
Treatment
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]
There have been no reported studies of established PMD therapy or treatment protocols, yet. [journals.lww.com]
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]
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. [patient.info]
Prognosis
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]
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]
Etiology
(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]
Epidemiology
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]
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]
Prevention
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]
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]