Van der Knaap sindromu - gec başlayan leykoensefalopatiya

Nasirova S.R.; Mehdiyeva S.A.

doi:10.28942/jpp.v9i1.188

Vol. 9 No. 1 (2023)

Original articles

Van Der Knapp Syndrome- Late onset leukoencephalopathy

Published: July 25, 2023

DOI: https://doi.org/10.28942/jpp.v9i1.188

Abstract

Van der Knaap syndrome (late-onset leukoencephalopathy) is one of the common hereditary leukoencephalopathies (LE) with a characteristic MRI picture of diffuse white matter damage with cystic degeneration. The disease is associated with genes EIF2B1-5, which encode five subunits of the translation initiation factor EIF2B. There are neonatal, child (most common) and late forms of the disease. The late-onset form accounts for 15-20% of all cases and is characterized by marked clinical diversity. In addition to neurological and cognitive disorders, ovarian failure is also characteristic of this disease. We bring to your attention our clinical observation as an example of this pathology.

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Van Der Knapp Syndrome- Late onset leukoencephalopathy

Abstract

References

Keywords

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