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

Annals of Indian Academy of Neurology

Volumn 17, Issue 1, 2014, Pages 113-116

  Nagappa, Madhu ^a   Bindu, Parayil S ^a   Adwani, Sikandar ^a   Seshagiri, Sangeeta K ^a   Saini, Jitender ^a   Sinha, Sanjib ^a   Taly, Arun B ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Abetalipoproteinemia; Acanthocytes; Dorsal column hyperintensity; Magnetic resonance imaging

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN B; FERROUS SULFATE; RETINOL; VITAMIN D; VITAMIN K GROUP;

ABETALIPOPROTEINEMIA; ACANTHOCYTOSIS; ADULT; ALPHA TOCOPHEROL DEFICIENCY; ANEMIA; ARTICLE; ATAXIA; CASE REPORT; CELIAC DISEASE; CERVICAL SPINAL CORD; DELAYED DIAGNOSIS; DIARRHEA; DISEASE COURSE; DYSARTHRIA; FAILURE TO THRIVE; FEMALE; GAIT DISORDER; HEARING DISORDER; HEARING IMPAIRMENT; HUMAN; IMAGING; NEUROIMAGING; NEUROPATHY; NIGHT BLINDNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PHENOTYPE; PHYSICAL EXAMINATION; RECURRENT DISEASE; RETINITIS PIGMENTOSA; TREMOR;

EID: 84898754615     PISSN: 09722327     EISSN: 19983549     Source Type: Journal    
DOI: 10.4103/0972-2327.128574     Document Type: Article

References (13)

1. Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950;5:381-7.
2. Sturman RM. The Bassen-Kornzweig syndrome: 18 years in evolution. J Mt Sinai Hosp N Y 1968;35:489-517.
3. Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT, et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet 1993;2:2109-16.
4. Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: Two case reports and literature review. Orphanet J Rare Dis 2008;3:19.
5. Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992;258:999-1001.
6. Collins JC, Scheinberg IH, Giblin DR, Sternlieb I. Hepatic peroxisomal abnormalities in abetalipoproteinemia. Gastroenterology 1989;97:766-70.
7. Southam E, Thomas PK, King RH, Goss-Sampson MA, Muller DP. Experimental vitamin E deficiency in rats. Brain 1991;114:915-93.
8. Vorgerd M, Tegenthoff M, Kühne D, Malin JP. Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency. Neuroradiology 1996;38 (Suppl 1):S111-3.
9. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008;12:155-67.
10. Triantafillidis JK, Kottaras G, Peros G, Merikas E, Gikas A, Condilis N, et al.Endocrine function in abetalipoproteinemia: A study of a female patient of Greek origin. Ann Ital Chir 2004;75:683-90.
11. Usuki F, Maruyama K. Ataxia caused by mutations in the alpha-Tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry 2000;69:254-6.
12. Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-Term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye (Lond) 2001;15:525-30.
13. Tanyel MC, Mancano LD. Neurologic findings in vitamin E deficiency. Am Fam Physician 1997;55:197-201.