Literature DB >> 26816882

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

Ankur Singh1, Rajniti Prasad2, Om Prakash Mishra3.   

Abstract

Diarrhoea is a common clinical problem for treating clinicians in developing countries. Mostly, it is attributed to malnutrition and infection. We, as clinicians, tend to miss some of cases who have inherited enteropathies because of lack of suspicion and non availability of diagnostic facilities. Here, we report a case of homozygous hypobetalipoproteinaemia in a nine-month-old female patient presenting with chronic diarrhoea and failure to thrive. Simple parental screening of lipid parameters led to correct diagnosis and early intervention in present case.

Entities:  

Keywords:  APOB gene; Abetalipoproteinaemia; Malnutrition

Year:  2015        PMID: 26816882      PMCID: PMC4717740          DOI: 10.7860/JCDR/2015/14166.6919

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  10 in total

1.  An infant with chronic diarrhoea and failure to thrive.

Authors:  H Narchi; M R El Jamil; S S Amr
Journal:  Eur J Pediatr       Date:  2000 Jan-Feb       Impact factor: 3.183

2.  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

3.  Importance of screening the peripheral smear.

Authors:  Sarala Rajajee; Malathi Sathyasekaran; Janani Shankar; Latha Dhathathri
Journal:  Indian J Pediatr       Date:  2002-09       Impact factor: 1.967

4.  A case of familial spinocerebellar degeneration with hypobetalipoproteinemia.

Authors:  J Korula; R K Namasivayam; T N Shadangi; P K Reddy; P T Raman
Journal:  Neurol India       Date:  1976-03       Impact factor: 2.117

5.  Neonatal familial hypobeta-lipoproteinemia.

Authors:  C J Glueck; R C Tsang; M J Mellies; R W Fallat
Journal:  Metabolism       Date:  1976-06       Impact factor: 8.694

6.  Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Authors:  Mathilde Di Filippo; Philippe Moulin; Pascal Roy; Marie Elisabeth Samson-Bouma; Sophie Collardeau-Frachon; Sabrina Chebel-Dumont; Noël Peretti; Jérôme Dumortier; Fabien Zoulim; Thierry Fontanges; Rossella Parini; Miriam Rigoldi; Francesca Furlan; Grazia Mancini; Dominique Bonnefont-Rousselot; Eric Bruckert; Jacques Schmitz; Jean Yves Scoazec; Sybil Charrière; Sylvie Villar-Fimbel; Frederic Gottrand; Béatrice Dubern; Diane Doummar; Francesca Joly; Marie Elisabeth Liard-Meillon; Alain Lachaux; Agnès Sassolas
Journal:  J Hepatol       Date:  2014-05-16       Impact factor: 25.083

Review 7.  Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Authors:  Jooho Lee; Robert A Hegele
Journal:  J Inherit Metab Dis       Date:  2013-11-28       Impact factor: 4.982

8.  Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

Authors:  J R Wetterau; L P Aggerbeck; M E Bouma; C Eisenberg; A Munck; M Hermier; J Schmitz; G Gay; D J Rader; R E Gregg
Journal:  Science       Date:  1992-11-06       Impact factor: 47.728

9.  Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.

Authors:  S G Young; S T Northey; B J McCarthy
Journal:  Science       Date:  1988-07-29       Impact factor: 47.728

Review 10.  Congenital diarrheal disorders: an updated diagnostic approach.

Authors:  Gianluca Terrin; Rossella Tomaiuolo; Annalisa Passariello; Ausilia Elce; Felice Amato; Margherita Di Costanzo; Giuseppe Castaldo; Roberto Berni Canani
Journal:  Int J Mol Sci       Date:  2012-03-29       Impact factor: 6.208

  10 in total

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