Adrenoleukodystrophy

Adrenoleukodystrophy Microchapters
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Diagnosis
History and Symptoms
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Case #1
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Synonyms and keywords: Adrenoleucodystrophy, Adrenomyeloneuropathy, Bronze Schilder disease, Siemerling-Creutzfeldt disease, Addison-Schilder syndrome

Adrenoleukodystrophy
ICD-10	E71.3
ICD-9	330.0, 277.86
OMIM	300100 202370
DiseasesDB	292
MeSH	D000326

Historical Perspective

• Initially it was described in germany by Siemerling and Creutzfeld in 1923. They called it Bronzekrankheitund Sklerosierende Encephalitis.
• Later on, it was designated as Schilder’s disease. But It was changed to "Adrenoleukodystrophy" by Michael Blaw in 1970.
• The X-linked recessive inheritance was revealed by Fanconi et al in 1963.
• In 1976, Igarashi et al described the accumulation of saturated very long chain fatty acids (VLCFAs) in brain and adrenal tissues.

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

External links

• Adrenoleukodystrophy at National Center for Biotechnology Information
• US Patent 5,331,009 — Patent to Croda International Plc on treating ALD with special oil composition inspired by Augusto Odone

References

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