Acanthocytosis physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

• Hematologic
  • Pallor
  • Jaundice
  • Bleeding
  • Lymphadenopathy

• Ocular
  • Progressive retinitis pigmentosa with loss of night vision, visual acuity, and color vision
  • Nystagmus after age 10 years
  • Ophthalmoplegia with strabismus
  • Progressive exotropia
  • Cataracts

• GI
  • Abdominal distention
  • Failure to thrive, with short stature and decreased weight
  • Hepatomegaly
  • Splenomegaly
  • Ascites

• Neurologic
  • Loss of deep tendon reflexes
  • Decreased sensation to touch, pain, temperature, and position
  • Stocking-glove distribution of hypoesthesia
  • Decreased muscle strength
  • Intention tremors and progressive ataxia with clumsiness and gait disturbances, dysarthria, dysdiadochokinesis, and dysmetria
  • Chorea
  • Mental retardation, cognitive decline, neuropsychological abnormalities
  • Altered mental status
  • Fatigue
  • Cold intolerance
  • Skin palmar erythema
  • Spider angiomas
  • Abdominal wall collateral veins
  • Edema
  • Recurrent skin infections

• Skeletomuscular
  • Muscular atrophy
  • Muscle contractures
  • Kyphoscoliosis
  • Pes cavus
  • Pes equinovarus