Difference between revisions of "Metachromatic Leukodystrophy (MLD)"

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(Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' <br/>'''Pathophysiology:''' Lysosomal...")
 
(Resources/References)
 
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'''Critical Times for Affected Patients:'''
 
'''Critical Times for Affected Patients:'''
 
*Recognition of symptoms and accurate diagnosis
 
*Recognition of symptoms and accurate diagnosis
'''Resources:'''
+
===Resources/References===
 
*National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
 
*National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
 
*[[media:MLD.pdf|United Leukodystrophy Foundation Fact Sheet — Metachromatic Leukodystrophy (MLD)]]
 
*[[media:MLD.pdf|United Leukodystrophy Foundation Fact Sheet — Metachromatic Leukodystrophy (MLD)]]
 
*[[media:metachromatic.pdf|Metachromatic Leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies -- N.M. Pastor-Soler, et al]]
 
*[[media:metachromatic.pdf|Metachromatic Leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies -- N.M. Pastor-Soler, et al]]
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[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]
 
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]

Latest revision as of 14:20, 20 November 2020

(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Lysosomal storage disease causing progressive demyelination of central and peripheral nervous sytem, also affecting kidneys and other visceral organs due to accumulation of cerebroside sulfate
Inheritance: Autosomal recessive
Demographics:

  • 1:2,500 in Navajo (closely related to Athabascan)
  • 1:40,000-1:100,000 in northern Europe and North America

Signs/Symptoms:

  • Children have normal development until onset of disease
  • Late infantile onset = 6m/o - 2y/o (up to 4y/o). regression of motor skills, gait difficulties, seizures, ataxia, hypotonia, extensor plantar responses, optic atrophy, fussiness/pain/distress - thought to be due to neuropathy or dystonia
  • Juvenile and adult onset => 4y/o. gait disturbance, ataxia, seizures, intellectual impairment, behavioral difficulties, upper motor neuron signs, peripheral neuropathy

Diagnosis:

  • Brain MRI: symmetric white matter lesions with periventricular predominance (early) and cortical atrophy (late)
  • Genetic testing for deficient ARSA (arylsulfatase A) gene activity
    • Option 1: blood draw 6-8mL green top (min 2mL) plus optional 1-2mL lavender top for DNA extraction if worried about aged specimens
    • Option 2: blood spots on PKU card

Management:

  • Consult YKHC on call Pediatrician and assign CPP status
  • refer to Pediatric Neurology
  • no curative treatment
  • Bone marrow transplant, gene therapy and hematopoietic stem cell transplant are all investigational with goal of slowing the disease course
  • Prognosis for late infantile and early juvenile onset is poor (death within 5 to 6 years)

Critical Times for Affected Patients:

  • Recognition of symptoms and accurate diagnosis

Resources/References


Common/Unique Medical Diagnoses