Canavan disease: Difference between revisions

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===Medical Therapy===
===Medical Therapy===
*There is no treatment for Canavan disease; the mainstay of therapy is supportive care:
*There is no treatment for Canavan disease; the mainstay of therapy is supportive care:
** Nutrition and hydration
**Adequate nutrition and hydration support with [[gastrostomy]]
**[[Physical therapy]] for delayed/lacking [[motor skills]]
**[[Antiepileptic drugs]] for [[seizure]] control.
**
**



Revision as of 15:42, 14 August 2020

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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]


Synonyms and keywords: Aspartoacylase Deficiency

For patient information, click here

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

  • The prevalence of Canavan Disease is approximately 1 per 100,000 individuals in general population.[5]
  • Canavan disease usually affects individuals of the Eastern European (Ashkenazi) Jewish ancestry.
  • In Ashkenazi Jews the prevalence of this disease is 1 in 6000-14000 individuals and 1 in 37-57 individuals are carriers among this population.[6]

Risk Factors

  • There are no established risk factors for Canavan disease.[4]
  • It is an autosomal recessive disease.
  • It is more common in the Ashkenazi Jew population.[6]

Screening

  • There is insufficient evidence to recommend routine screening for Canavan disease in the general population.
  • Carrier testing is suggested for people of Northern and Central Europe.
  • Prenatal screening is done in high-risk cases.

Natural History, Complications, and Prognosis

  • Patients with Canavan disease may progress to develop life-threatening complications, some patients may develop earlier in the infant stage and some develop later.
  • Common complications of Canavan disease include:
  • Prognosis is generally poor in the most common form of the disease, and patients usually don't survive beyond age ten. Some patients may survive into teens and twenties. Patients with a mild form of the disease have a normal lifespan.

Diagnosis

Diagnostic Study of Choice

  • There are no established criteria for the diagnosis of Canavan disease. However, the diagnosis is confirmed by the presence of increased urinary N-acetylaspartic acid and an MRI suggestive of white matter disease in patients presenting with the aforementioned signs and symptoms.[5]

History and Symptoms

  • Most commonly patients present at three to six months of age with lethargy, weak cry, irritability, poor head control, macrocephaly, hypotonia, poor feeding due to dysfunctional swallowing, seizures. The dosease have relentless progression and soon is complicated by blindness, spasticity, decerebrate posturing and eventual death.[7]
  • 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 and have normal life expectancy.

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

MR spectroscopy is helpful in the diagnosis of Canavan disease. Findings on MR spectroscopy diagnostic of Canavan disease include elevated NAA and NAA:creatine ratio.[9]

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Canavan disease.

Treatment

Medical Therapy

Surgery

  • Surgical intervention is not recommended for the management of Canavan disease.

Primary Prevention

  • Effective measures for the primary prevention of Canavan disease include carrier testing and genetic counseling in high-risk individuals/populations.

Secondary Prevention

  • There are no established measures for the secondary prevention of Canavan Disease.

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 3.2 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. 4.0 4.1 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. 5.0 5.1 5.2 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.
  6. 6.0 6.1 Zayed, Hatem (2015). "Canavan disease: An Arab scenario". Gene. 560 (1): 9–14. doi:10.1016/j.gene.2015.02.009. ISSN 0378-1119.
  7. 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.
  8. Gordon N (2001). "Canavan disease: a review of recent developments". Eur J Paediatr Neurol. 5 (2): 65–9. doi:10.1053/ejpn.2001.0467. PMID 11589315.
  9. Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP (2018). "Neuroimaging Findings of Organic Acidemias and Aminoacidopathies". Radiographics. 38 (3): 912–931. doi:10.1148/rg.2018170042. PMID 29757724.

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