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[Choreoacanthocytosis. A neurologic-hematologic syndrome]
L P Hiersemenzel1, S Johannes, P Themann
1Abteilung Neurologie und Klinische Neurophysiologie, Klinikum der Albert-Ludwigs-Universität, Freiburg.
Der Nervenarzt
|June 1, 1996
Summary
This case report details a patient with choreoacanthocytosis (CA), a rare disorder presenting with movement abnormalities and neurological issues. Early diagnosis and understanding of CA are crucial for managing this complex condition.
Area of Science:
- Neurology
- Genetics
- Clinical Medicine
Background:
- Choreoacanthocytosis (CA) is a rare, inherited neurodegenerative disorder.
- It is characterized by a combination of hyperkinetic movement disorders, seizures, cognitive decline, and peripheral neuropathy.
- The presence of acanthocytes (spiny red blood cells) in peripheral blood is a hallmark diagnostic feature.