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Leukodystrophy


Presentation

  • RESULTS: Of the 31 children studied, 14 presented with acute disseminated encephalomyelitis (ADEM); they were younger (mean 4.1y) than the remainder (mean 8.5y) who presented with optic neuritis and/or transverse myelitis (p INTERPRETATION: MOG antibody[ncbi.nlm.nih.gov]
Regurgitation
  • […] disease, this particularly occurs inthe neck) Hyperextension of the legs : legs are kept abnormally straight Flexion of the arms : arm muscles tend to be flexed Blindness Megalocephaly: enlarged head (also called macrocephaly) Feeding difficulties Nasal regurgitation[ulf.org]
Neonatal Jaundice
  • The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood.[ncbi.nlm.nih.gov]
Hypertelorism
  • The aberration affected a 14-month-old boy conceived after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, hyperopia[ncbi.nlm.nih.gov]
Cryptorchidism
  • […] after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, hyperopia, wide-bridged nose, retrognathia, high palate, and cryptorchidism[ncbi.nlm.nih.gov]
Posture Abnormal
  • The early juvenile form manifests between four and six years of age with gait and postural abnormalities, behavioral and emotional problems, vision loss, seizures, and progressive spastic tetraparesis.[invitae.com]

Workup

  • After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.[ncbi.nlm.nih.gov]

Treatment

  • CONCLUSION: NaHB is a highly effective and safe treatment that needs further controlled studies.[ncbi.nlm.nih.gov]
  • Treatment Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs.[ninds.nih.gov]
  • Without early diagnosis and treatment, MLD is deadly.[globalgenes.org]
  • Many studies and clinical trials are in progress to find treatment and therapies for each of the different leukodystrophies.[en.wikipedia.org]

Prognosis

  • Prognosis The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy. x Prognosis The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.[ninds.nih.gov]
  • What is the prognosis? The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy. What research is being done? The NINDS supports research on genetic disorders, including the leukodystrophies.[my.clevelandclinic.org]
  • Management and Prognosis Patients with leukodystrophies are gravely affected by the disease: almost half of them require feeding tubes, and just over half are ever able to walk independently.[news-medical.net]
  • Prognosis The prognosis for leukodystrophy depends on the specific diagnosis. In general, a younger age of symptom onset implies a worse prognosis.[encyclopedia.com]

Etiology

  • To further understand the disease etiology and functions of PYCR2, small molecule metabolomics profiling was performed in plasma from three severely affected patients.[ncbi.nlm.nih.gov]
  • Etiology ADLD is caused by chromosomal rearrangements with duplications of the LMNB1 gene (5q23.2) or a ''position effect'' due to a genomic deletion upstream of the gene causing its upregulation.[orpha.net]

Epidemiology

  • Adrenoleukodystrophy Epidemiology Segmentation The disease epidemiology covered in the report provides historical as well as forecasted epidemiology [total prevalent cases, diagnosed prevalence of ALD by clinical manifestations (cerebral ALD, Adrenomyleoneuropathy[gii.co.jp]
  • Amsterdam, The Netherlands. 7 Institute of Neurology and Health Care Engineering, University College London, London, United Kingdom. 8 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. 9 Department of Clinical Epidemiology[ncbi.nlm.nih.gov]
  • Summary Epidemiology More than 20 families in different ethnic groups have been reported to date. Exact prevalence and incidence data are however lacking.[orpha.net]
  • Epidemiology Frequency United States Incidence is estimated to be 1 case per 40,000 births. Mortality/Morbidity Morbidity and mortality rates vary with each form of the disease.[emedicine.medscape.com]
  • Epidemiological and clinical data of our patients. No genetics studies could be made on five patients who died before 2001 as DNA was not available.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Despite a few case reports over the last 60 years, little progress has been made in defining the phenotype, genotype and pathophysiological mechanisms involved in pigmentary orthochromatic leukodystrophy (POLD).[ncbi.nlm.nih.gov]
  • While the more specific underlying causes of leukodystrophy are dependent upon the type, there are, however, common pathophysiological patterns that can be seen amongst all types.[en.wikipedia.org]

Prevention

  • We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies.[ncbi.nlm.nih.gov]
  • Though this procedure will not reverse damage already done by the disease, it can stop future damage to the nervous system and prevent mental disability for some people.[healthline.com]
  • HSC gene therapy can prevent progression of metachromatic leukodystrophy. Magnetic resonance (MR) images of the brain of a patient (MLD01) before and after gene therapy. The brain of this patient appeared largely normal 2 years after treatment.[science.sciencemag.org]
  • The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]

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