Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia

Abstract

Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent diarrheal illness in her first decade, followed by anemia, RP, and neurological involvement with progressive deafness, cerebellar and sensory ataxia, and subclinical neuropathy in her second decade of life. While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of abetalipoproteinemia, deafness is rarely described. In addition, we have highlighted the abnormal posterior column signal changes in the cervical cord in this patient. Early recognition avoids unnecessary investigations and has a potential to retard the disease progression by replacing some of the deficient vitamins.

Keywords: Abetalipoproteinemia; acanthocytes; dorsal column hyperintensity; magnetic resonance imaging.

Figure 1

(a) Fundus photograph of the patient shows tapeto - retinal degeneration with bone - corpuscle like pigment dispersion in the mid-periphery of the retina and minimal attenuation of retinal arterioles, suggestive of an atypical form of RP, (b) Peripheral smear shows numerous acanthocytes, (c) Axial T2W magnetic resonance imaging of the cervical spine shows hyperintense signals in the dorsal columns