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

  • Canavan disease must be differentiated from other similar diseases that cause

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • Most commonly patients usually present at three to six months of age with lethargy, weak cry, poor head control, macrocephaly, blindness, hypotonia, poor feeding due to dysfunctional swallowing, seizures, and/or irritability.[5]
  • The most common form of the disease is also the most serious form and progresses rapidly.
  • The late-onset variant of the disease has mild and non-specific signs and symptoms including speech delay and motor skill delay. It usually presents after 5 years of age.

Physical Examination

Laboratory Findings

Electrocardiogram

  • There are no ECG findings associated with Canavan disease.

X-ray

  • There are no x-ray findings associated with Canavan disease.

Echocardiography or Ultrasound

  • There are no echocardiography/ultrasound findings associated with Canavan disease.

CT scan

MRI

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

See also

External links

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.
  4. von Jonquieres, Georg; Spencer, Ziggy H. T.; Rowlands, Benjamin D.; Klugmann, Claudia B.; Bongers, Andre; Harasta, Anne E.; Parley, Kristina E.; Cederholm, Jennie; Teahan, Orla; Pickford, Russell; Delerue, Fabien; Ittner, Lars M.; Fröhlich, Dominik; McLean, Catriona A.; Don, Anthony S.; Schneider, Miriam; Housley, Gary D.; Rae, Caroline D.; Klugmann, Matthias (2017). "Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy". Acta Neuropathologica. 135 (1): 95–113. doi:10.1007/s00401-017-1784-9. ISSN 0001-6322.
  5. Traeger, Eveline C.; Rapin, Isabelle (1998). "The Clinical Course of Canavan Disease". Pediatric Neurology. 18 (3): 207–212. doi:10.1016/S0887-8994(97)00185-9. ISSN 0887-8994.
  6. Reddy, Nihaal; Calloni, Sonia F.; Vernon, Hilary J.; Boltshauser, Eugen; Huisman, Thierry A. G. M.; Soares, Bruno P. (2018). "Neuroimaging Findings of Organic Acidemias and Aminoacidopathies". RadioGraphics. 38 (3): 912–931. doi:10.1148/rg.2018170042. ISSN 0271-5333.

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