Abstract:A 36-year-old female presented with generalised tonic-clonic seizures shortly after the birth of her second child. Over the next 4 years she developed dysarthria, odd affect marked by compulsive behav...A 36-year-old female presented with generalised tonic-clonic seizures shortly after the birth of her second child. Over the next 4 years she developed dysarthria, odd affect marked by compulsive behaviour, outbursts of anger, disinhibition and dementia. She had motor disturbances, particularly with writing and eating, and her gait was stiff with choreiform movements. Biochemistry showed elevated serum creatine kinase (414 U/l, normal 24–170 U/l) and alkaline phosphatase (376 U/l, normal 30–135 U/l). Her blood count was normal and some acanthocytes were seen on the Romanowsky-stained peripheral blood film (left). A wet preparation of freshly collected EDTA-anticoagulated blood showed approximately 30% acanthocytes (control <1%), thereby confirming the clinical suspicion of neuroacanthocytosis (right). Acanthocytosis with neurological impairment is seen in neuroacanthocytosis, McLeod syndrome and abetalipoproteinaemia. Neuroacanthocytosis is a rare autosomal recessive disorder with a mean age of onset of 35 years and mutations of the CHAC gene on chromosome 9q21. The disorder is characterised by choreic movements, dysphagia, dysarthria, seizures, behavioural changes, dementia and elevated creatine kinase levels. The diagnosis requires the detection of acanthocytes in the peripheral blood. The morphological examination of stained air-dried blood films underestimates the presence of acanthocytes, and they may be easily misinterpreted as red cell storage changes. The diagnosis requires the detection of 5–50% acanthocytes on examination of a wet preparation of freshly collected blood, which highlights the acanthocyte morphology, or assessment by electron microscopy. The acanthocytosis is thought to be due to structural changes to red cell membrane proteins, particularly Band 3 protein, and not lipid abnormalities. Reduced chorein activity, resulting from mutations of the CHAC gene, may lead to reduced red cell membrane fluidity resulting in acanthocytosis. Molecular genetic analysis is not yet routinely available for diagnostic testing.Read More
Publication Year: 2005
Publication Date: 2005-09-14
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 4
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