title: 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.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Parayil S
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Sikandar
authors.initials: S
authors.lastname: Adwani
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Sangeeta K
authors.initials: SK
authors.lastname: Seshagiri
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Jitender
authors.initials: J
authors.lastname: Saini
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
keywords: Abetalipoproteinemia; acanthocytes; dorsal column hyperintensity; magnetic resonance imaging
references.citation: Neuroradiology. 1996 May;38 Suppl 1:S111-3
references.pmid: 8811695
references.citation: Hum Mol Genet. 1993 Dec;2(12):2109-16
references.pmid: 8111381
references.citation: J Mt Sinai Hosp N Y. 1968 Sep-Oct;35(5):489-517
references.pmid: 5245476
references.citation: Eye (Lond). 2001 Aug;15(Pt 4):525-30
references.pmid: 11767031
references.citation: Eur J Paediatr Neurol. 2008 May;12(3):155-67
references.pmid: 17869142
references.citation: J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):254-6
references.pmid: 10896705
references.citation: Gastroenterology. 1989 Sep;97(3):766-70
references.pmid: 2753336
references.citation: Orphanet J Rare Dis. 2008 Jul 08;3:19
references.pmid: 18611256
references.citation: Science. 1992 Nov 6;258(5084):999-1001
references.pmid: 1439810
references.citation: Ann Ital Chir. 2004 Nov-Dec;75(6):683-90
references.pmid: 15960365
references.citation: Am Fam Physician. 1997 Jan;55(1):197-201
references.pmid: 9012278
references.citation: Brain. 1991 Apr;114 ( Pt 2):915-36
references.pmid: 1710528
references.citation: Blood. 1950 Apr;5(4):381-87
references.pmid: 15411425