Canavan disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S[2]


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Canavan disease
ICD-9 330.0
OMIM 271900
DiseasesDB 29780
MedlinePlus 001586

Overview

Historical Perspective

  • Canavan disease was first described in 1931 by an American neuropathologist, Myrtelle Canavan.[1]
  • She wrote a case-study in 1931 of a child who died at sixteen-month of age and was found to have cerebral spongy degenerative changes of the central nervous system.[1]
  • The disease was later named after Myrtelle Canavan.

Classification

  • There is no established system for the classification of Canavan disease.
  • Canavan disease is categorized as a leukodystrophy.[2]

Pathophysiology

Causes

Differentiating Canavan disease from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

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History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

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Treatment

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Primary Prevention

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References

  1. 1.0 1.1 Canavan, Myrtelle M. (1931). "SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA". Archives of Neurology & Psychiatry. 25 (2): 299. doi:10.1001/archneurpsyc.1931.02230020085005. ISSN 0096-6754.
  2. Froukh, Tawfiq (2019). "First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan". BioMed Research International. 2019: 1–7. doi:10.1155/2019/7235914. ISSN 2314-6133.
  3. 3.0 3.1 Matalon, R.; Michals, K.; Sebesta, D.; Deanching, M.; Gashkoff, P.; Casanova, J.; Optiz, John M.; Reynolds, James F. (1988). "Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease". American Journal of Medical Genetics. 29 (2): 463–471. doi:10.1002/ajmg.1320290234. ISSN 0148-7299.

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