Adrenoleukodystrophy

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Adrenoleukodystrophy Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Adrenoleukodystrophy from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

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

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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

Overview

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.

Classification

Pathophysiology

Causes

Differentiating Adrenoleukodystrophy from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

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

References

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