Neurologic Syndromes with Acanthocytes
Acanthocytes (“thorny” erythrocytes) seen in three hereditary neurologic syndromes: abetalipoproteinemia, neuroacanthocytosis, McLeod syndrome.
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
Autosomal recessive; inability of liver and intestine to secrete apolipoprotein B. Mutations in microsomal transfer triglyceride protein. Lipid malabsorption leads to: (a) demyelination (especially posterior columns, spinocerebellar tracts, corticospinal tracts); (b) abnormalities in cerebellum, peripheral nerve axons; (c) deficiency of fat-soluble vitamins (A, D, E, K).
Symptoms and Signs
Fatty diarrhea with growth retardation from infancy. First neurologic sign: loss of tendon reflexes around age 5 years. Age 10 years: ataxic gait, then limb ataxia; tremor of head, hands; sensorimotor neuropathy; progressive external ophthalmoplegia. Adolescence: retinitis pigmentosa (night-blindness, constricted visual fields, decreased visual acuity). Bleeding diathesis (vitamin K deficiency).
Investigations
Serum: low cholesterol and triglycerides; low ESR.
EMG: axonal neuropathy. Abnormal VER and SSER. ECG abnormal, if cardiomyopathy.Related posts:
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