Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 3343  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Articlesmenu-bullet Search Instructions Online Submission Subscribe Etcetera Contact
 :: Next article
 :: Previous article 
 :: Table of Contents
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::Related articles
 ::  Article in PDF (13 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  Abstract
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  Acknowledgment
 ::  References

 Article Access Statistics
    PDF Downloaded120    
    Comments [Add]    

Recommend this journal

Year : 1991  |  Volume : 37  |  Issue : 4  |  Page : 231-2,232A

Cholelithiasis and endogenous hypertriglyceridemia in a thirteen year old girl (a case report).

Department of Surgery, Saifee Hospital, Bombay, Maharashtra.

Correspondence Address:
Department of Surgery, Saifee Hospital, Bombay, Maharashtra.

  ::  Abstract

This is a case report of a 13-year-old girl who had cholelithiasis secondary to endogenous hypertriglyceridemia. The latter was probably the result of mutation.

How to cite this article:
Rais N, Undre A R, Shah A. Cholelithiasis and endogenous hypertriglyceridemia in a thirteen year old girl (a case report). J Postgrad Med 1991;37:231-2,232A

How to cite this URL:
Rais N, Undre A R, Shah A. Cholelithiasis and endogenous hypertriglyceridemia in a thirteen year old girl (a case report). J Postgrad Med [serial online] 1991 [cited 2022 Aug 11];37:231-2,232A. Available from:

  ::   Introduction Top

Cholelithiasis is a rare disorder in paediatric practice[1] and is usually secondary to hemolytic anaemic, anatomic abnormality of the biliary tree, sepsis, parasitic infestations, or metabolic disorder[2]. We report a case of 13-year-old-girl that presented with cholelithiasis and, on investigations, was found to have endogenous hypertriglyceridemia.

  ::   Case report Top

Miss SM, a 13-year-old Dawoodi Bohra Muslim, was admitted under our care at the Saifee Hospital, Mumbai on 16 November 1981 with the history of pain in abdomen for 1½ years. The pain originated in the right hypochondrium, was colicky in nature and radiated to the epigastrium and the right shoulder. It was aggravated by a fatty meal and was relieved by abdominal compression and antispasmodics. There was no history of heartburn, water brash, vomiting or melaena. She ate poorly because of the pain and had lost weight over the past 1½ years. Her bowels were regular and micturition was normal. There was no history of passing mucus, blood or worms in the stool. The patient had been investigated for abdominal pain in August 1980. The Mantoux test was positive and her X-ray abdomen and barium studies were reported to be normal. Before she came to us, she had been treated with antacids, anticholinergics, isoniazid, ethambutol and B-complex. She had not derived any benefit from the above treatment.
The patient was born at full term, the delivery had been normal and so had been her milestones. She did not suffer from any serious illness in infancy or childhood. She had an 8-year-old, mentally subnormal brother and a 5-year-old, normal brother. There was no family history of diabetes, hypertension, premature coronary artery disease or hyperlipidemia.
On examination, the patient was found to be asthenic, 137 cm tall and weight 25 kg. Her pulse was 90/min. and B. P. was 110/76 mm Hg. She was pale but did not have jaundice, cyanosis, clubbing or peripheral lymphadenopathy. There were no cutaneous xanthomas, xanthalesmas, premature arcus senilis or lipemia retinalis. The skin, skull and spine were normal. She had a scaphoid abdomen. The umbilicus was normally situated and all quadrants of the abdomen moved well with respiration. There was no visible mass, and the hernial sites were normal. On palpation, there was marked tenderness in the right hypochondrium and epigastrium. The spleen was palpable 2.5 cm below the costal margin; it was soft but not tender. The liver, gall bladder and kidneys were not palpable and no free fluid was present in the peritoneal cavity. The bowel sounds were normal. No friction rub was audible over the spleen. The respiratory, cardiovascular and central nervous systems were normal. A review of her old X-rays suggested the presence of gall stones. As the studies for hemolytic disease were negative, she was then investigated for huperlipo-proleinaemea, which turned out to be positive.
Her investigations were as follows: Hb was 10.3g%;
E.S.R. 17 mm at the end of 1st hours; W.B.C. Count - T.C. was 8200/cmm and with lymphocytes 54 polymorphonuclear cells 2% eosnophils and 1% monocytes. The red cell morphology, osmotic fragility, glucose 6-phosphatase dehydrogenase activity, haemoglobin electrophoretic pattern and bone marrow examination were normal. No sickling phenomenon could be demonstrated in the red cells. The fasting blood glucose was 52 mg%, the serum uric acid was 3.2 mg% and serum amylase was 85 IU/100 ml. The serum cholesterol was 190 mg% (Normal: 45-250 mg% at the age of 10-15 years). The electrophoretic fractionation of lipoproteins (See [Figure - 1]) revealed raised pre-beta fraction, 54% (normal less than 72%). Chylomicrons were absent. The lipid composition of lipoproteins was as follows: H.D.L. cholesterol: 31 mg% (normal: 1016%mg%), V.L.D.L. triglycerides: 125 mg% (normal: 30-80 mg%), L.D.L. cholesterol: 117 mg% (normal: 100180 mg%). The above lipoprotein profile and lipid composition was found to be suggestive of endogenous hypertrilyceridenlia i.e. Type IV hyperlipoprotenemia of Fredrickson. The thyroxine level was 8.8 ug/100 nil. (normal 5.0-13.0 ug/100 ml) and ISH was 3.8 ?IU/ml (normal: 1.0-6.5 ?IU/ml.) The X-ray of the chest and E.C.G. were normal. A plain X-ray of the-abdomen and the previous barium studies showed two calcific densities in the region of the gall bladder. An oral cholecystogram confirmed the diagnosis of cholelethiasis. The gall bladder contracted sluggishly following a fatty meal.
The patient underwent exploratory laparotomy on 8-11-1991. The gall bladder was inflamed and two stones were palpable in the gall bladder. The liver and pancreas were normal. A cholecystectomy was performed. The intra- and post-operative periods were uneventful and the patient was discharged on 20-11-1981.
The gall stones were of the mixed variety. The histopathologic diagnosis of the gall bladder specimen was chronic cholecystitis with cholelithiasis.
The entire family including grandparent on both sides were subjected to lipid studies. [Figure - 2] shows the family tree. The maternal grandfather had mixed hyperlipoproteinaemia. Both parents and other siblings of the patient had normal lipid profile.
The patient was advised a carbohydrate restricted diet and a regular follow-up. A repeat lipid profile on 30 January 1982 showed no change as compared to the preoperative one. At the recent follow up visit (during 1991), she was found to be free of symptoms.

  ::   Discussion Top

Cholelitiasis is more common in patients with endogenous hypertriglyceridemia than the normal subjects[3]. Endogenous hypertriglyceridemia is inherited as an autosomal dominant trait but mutations can occur, in which case the disease process generally manifests after the age of 20 years[4]. As seen from Fig. 2, the propositus appears to have endogenous hypertriglyceridemia as a result of mutation. The clinical picture has appeared at an unusually young age along with cholelithiasis and therefore deserves documentation. It is probably the first case report of both disorders occurring concurrently during the adolescent years.

  ::   Acknowledgment Top

We thank the Medical Director and the President of Saifee Hospital Trust, Mumbai 400 004 for allowing us to publish the hospital data.

  ::   References Top

1. Macmillan RW, Schullinger JN, Santulli TV. Cholelithiasis in childhood. Amer J Surg 1974; 127:689-692.  Back to cited text no. 1    
2.Söderluand S, Zetterström B. Cholecystitis and cholelithiasis in children. Arch Dis Child 1962; 37:174-180.  Back to cited text no. 2    
3.Lewis B. Hyperlipidemia and cardiovascular disease. In: “Recent Advances in Medicine”. Vol. 17. DN Baron, N Comston, AM Dawson, editors. Churchill Livingstone; 1977, pp 245-275.  Back to cited text no. 3    
4.Havel R, Goldstein JL, Brown MS. Lipoproteins and lipid transport. In: “Metabolic Control and Disease:" Editors: P. K. Bondy and Rosenber. 8th Edition, 1980. Philadelphia: WB Saunders & Co; 1980, pp 393-494.   Back to cited text no. 4    

Print this article  Email this article
Previous article Next article
Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow