Literature DB >> 12420918

Importance of screening the peripheral smear.

Sarala Rajajee1, Malathi Sathyasekaran, Janani Shankar, Latha Dhathathri.   

Abstract

A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.

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Year:  2002        PMID: 12420918     DOI: 10.1007/bf02723699

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  6 in total

1.  Abetalipoproteinemia in an Indian family.

Authors:  M V Padma; S Jain; M C Maheshwari
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

2.  Somatosensory evoked potentials in abetalipoproteinemia.

Authors:  S F Johnson
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1985-01

3.  A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family.

Authors:  J K Triantafillidis; G Kottaras; S Sgourous; P Cheracakis; G Driva; E Konstantellou; A Parasi; H Choremi; E Samouilidou
Journal:  J Clin Gastroenterol       Date:  1998-04       Impact factor: 3.062

4.  Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy.

Authors:  R A Hegele; A Angel
Journal:  Can Med Assoc J       Date:  1985-01-01       Impact factor: 8.262

5.  [Role of the electrophysiologic examination in the diagnosis of Bassen-Kornzweig syndrome].

Authors:  E Hirsch; M Simon; B Villemin; D Coumaros; J M Warter; M Jesel
Journal:  Neurophysiol Clin       Date:  1988-09       Impact factor: 3.734

6.  Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Authors:  T M Narcisi; C C Shoulders; S A Chester; J Read; D J Brett; G B Harrison; T T Grantham; M F Fox; S Povey; T W de Bruin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

  6 in total
  2 in total

1.  An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  J Clin Diagn Res       Date:  2015-12-01

2.  Peripheral Smear Review and Bone Marrow Biopsy Correlation.

Authors:  Adrian R Bersabe; James K Aden; Nathan M Shumway; Michael B Osswald
Journal:  J Clin Diagn Res       Date:  2017-06-01
  2 in total

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