Open AccessClinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
Author(s) -
Madhu Nagappa,
Parayil Sankaran Bindu,
Sikandar Adwani,
Sangeeta K Seshagiri,
Jitender Saini,
Sanjib Sinha,
Arun B. Taly
Publication year - 2014
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.128574
Subject(s) - medicine , ataxia , subclinical infection , pediatrics , anemia , gastroenterology , psychiatry
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.