A group of disorders with the following general features
Neuroacanthocytosis general features
Neurologic symptoms +blood smear with increased acanthocytes (spiky appearing RBCs). Note: wet preparation with a 1:1 dilution with normal saline, i.e. one drop of blood with one drop of saline.
Choreoacanthocytosis:
Diagnosis:
Clinical features:
- Chorea, orofaciolingual dyskinesia
- Dysphagia, dysarthria,
- Seizures
- Dementia
- Areflexia (peripheral neuropathy), myopathy
Genetics:
- CHaC gene,
Other tests:
- +Blood smear: Increased acanthocytes
- Elevated CK
MacLeod’s syndrome:
Diagnosis:
Clinical features:
- Chorea
- Psychiatric symptoms
- Areflexia (peripheral neuroathy), myopathy
Genetics:
- X-linked, KX gene,
Other tests:
- +Blood smear: Increased acanthocytes Elevated CK
- Kell blood group, hemolytic anemia
Abetalipoproteinemia a.k.a.Bassen-Kornzweig Syndrome:
Diagnosis:
Clinical features:
- Spinocerebellar ataxia, peripheral neuropathy and retinitis pigmentosa
- Malabsorption
Genetics:
- Autosomal recessive, loss of serum apolipoprotein B
Other tests:
- loss of serum apolipoprotein B, fat soluble vitamin deficiency,
- Lipid profile: very low cholesterol
- +Blood smear: Increased acanthocytes
Neurodegeneration with brain iron accumulation type 1 NBIA1 a.k.a. Pantathenate kinase PANK deficiency, formerly Hallervorden-Spatz disease:
See separate page.