Roshni Sonawane
Clinical Presentation
The manifestations of abetalipoproteinemia are multisystemic. The salient features are fat malabsorption during infancy and neuro-ocular complications during adolescence.

The presentation during infancy includes poor growth, steatorrhea, nausea and abdominal pain. These symptoms respond to a reduction in dietary fat.

During adolescence, features due to complications of fat-soluble vitamin deficiencies (mainly vitamin E) predominate. The proposed pathogenesis is lipid peroxidation.

There is demyelination of the central and peripheral nervous systems. The presentation resembles spinocerebellar ataxia. It includes the signs of posterior column neuropathy, cerebellar ataxia, pyramidal tract involvement and myopathy. Musculoskeletal complications like kyphoscoliosis and lordosis can result eventually leading to severe disability and immobilization by the second decade.

Ocular Manifestations like ptosis, nystagmus, strabismus, anisocoria and ophthalmoplegia can be present. The unique presentation is retinitis pigmentosa which can show by ten years of age. The patient presents with nyctalopia, colour blindness, tunnel vision. There is a progressive loss of peripheral vision. The pathogenesis is related to mainly Vitamin E and also Vitamin A deficiency. Untreated patients can develop blindness.

Other systems can be involved as follows: Rarely hepatic involvement in the form of steatosis and elevated transaminases can occur. Chronic hepatic damage is not characteristic, although it has been described in few abetalipoproteinemia patients. Hematological features like anemia and acanthocytosis can be the initial presentation of the disease. Coagulation abnormalities can also be present. Very rarely sudden cardiac death can occur. Overall fertility is reduced although pregnancies have occurred in patients with abetalipoproteinemia. Also gastrointestinal and neurological malignancies have been diagnosed in few patients with abetalipoproteinemia. The hypothesis here is chronic deficiencies of vitamins A and E with supposed antineoplastic properties.

Abetalipoproteinemia Abetalipoproteinemia 03/14/2016
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