Annals of Indian Academy of Neurology
CASE REPORT
Year
: 2014  |  Volume : 17  |  Issue : 1  |  Page : 113--116

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


Madhu Nagappa1, Parayil S Bindu1, Sikandar Adwani1, Sangeeta K Seshagiri2, Jitender Saini3, Sanjib Sinha1, Arun B Taly1 
1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
3 Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India

Correspondence Address:
Sanjib Sinha
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore - 560 029, Karnataka
India

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.


How to cite this article:
Nagappa M, Bindu PS, Adwani S, Seshagiri SK, Saini J, Sinha S, Taly AB. Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia.Ann Indian Acad Neurol 2014;17:113-116


How to cite this URL:
Nagappa M, Bindu PS, Adwani S, Seshagiri SK, Saini J, Sinha S, Taly AB. Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. Ann Indian Acad Neurol [serial online] 2014 [cited 2021 Apr 13 ];17:113-116
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=1;spage=113;epage=116;aulast=Nagappa;type=0