• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.2
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• pp.134-140
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• 2018

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.320-324
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• 2002

Purpose : Steatorrhea tests have been developed using various methods. Acid steatocrit is a simple method to detect steatorrhea and has very high sensitivity and specificity. This present study was designed to establish the normal values of acid steatocrit in Korean infants and to find the difference according to the various feeding methods. Methods : Acid steatocrit tests were conducted on 128 infants who were under 12 months of age and who had non-specific gastrointestinal diseases between May 1998 and April 2001. The results were classified into neonatal ages(79 neonates), 1-6 months(28 infants), 7-12 months(21 infants). This included formula-fed(46 neonates) and human milk-fed(33 neonates), 1-6 months formula-fed (18 infants) and human milk-fed(10 infants), 7-12 months formula-fed(11 infants) and human milk-fed(10 infants). Results : The acid steatocrit values decreased by infant age in months. Acid steatocrit values decreased much more after 7 months of ages. The acid steatocrit values of human milk-fed infants were significantly lower than those of formula-fed infants. Conclusion : Our study confirms that a physiologic steatorrhea was found in the infant period and decreases by infant age of months. The acid steatocrit test might be useful for the evaluation of gastrointestinal milk fat malabsorption disorders and therapeutic effects.

• Journal of Microbiology and Biotechnology
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• v.13 no.3
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• pp.360-365
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• 2003

The ability of 19 lactic acid bacteria to produce hydroxy fatty acids (HFAs) from unsaturated food fatty acids (USFAs) was tested. HFAs are related to human ailments, including steatorrhea. All the cultures produced HFAs from USFAs, unless their growth was inhibited by free USFAs. Lactococcus lactis subsp. lactis KFRI 131 converted oleic, linoleic, and linolenic acid into 10-hydroxyoctadecanoic acid (10-HODA), 10-hydroxyoctadecaenoic acid (10-HODEA), and 10-hydroxyoctadecadienoic acid (10-HODDEA), respectively. Both a USFA and a surfactant were needed for the bacterium to convert the fatty acid into the corresponding HFA. It was apparent that the production of 10-HODA was growth-related, while that of 10-HODDEA was not. It was unclear whether the production of 10-HODEA was growth-related.

• Mass Spectrometry Letters
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• v.3 no.3
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• pp.68-73
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• 2012

Fat malabsorption is an important cause of poor growth in infancy and childhood. Steatorrhea tests have been developed using various methods. Traditional measurements of stool fat, however, require large samples and it often takes as a week to complete the analysis. In this paper, a liquid chromatography-electrospray ionization/mass spectrometry (LC-ESI/MS) method was developed for simultaneous quantitative analysis of triacylglycerols, triolein, diolein and monoolein, in mouse feces. Moreover, the procedure was rapid, simple as well as compatible with LC-ESI/MS. Chloroform-isopropyl alcohol solution was used for fat-soluble sample extraction. After centrifugation and filtration, an analytical solution was prepared. Triolein, diolein and monoolein were separated using non-aqueous reversed-phase column with the mobile phase consisting of A (methanol) and B (acetone-isopropyl alcohol). The precision (% CV) and accuracy (% bias) of the assay were 3.8-14.7% and 85.2-114.9%, respectively. This method has been successfully applied to simultaneous determination of triolein, diolein and monoolein in feces from 30 mice. This method can therefore be applied to measure triacylglycerols in mouse feces accurately and precisely by LC-ESI/MS, thereby helping to predictive biomarker in fat malabsorption and diagnostic research.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.77-82
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• 2001

Purpose: The fecal acid steatocrit is an improved steatocrit method for the evaluation of fecal fat. The present study was set up in order to define the normal range of acid steatocrit values during the first 3 months of life. Methods: Fecal acid steatocrit values were determined in 78 healthy full term and in 21 healthy prematurely born infants between May 1998 and April 2000. The acid steatocrit method was performed in these babies during the first 3 months of life. Results: Steatorrhea occurs during the first month and then decreases, as shown by the fall in the acid steatocrit curve from 1st to 3rd month in our subject. Very high acid steatocrit results (above 90%) were found in all full term and premature infants during the first month of age. Acid steatocrit results of human milk-fed infants were significantly lower than those of formula-fed infants (p=0.0018). Conclusion: We conclude that high acid steatocrit results during the first 1 month of age can be due to physiologic steatorrhea. The acid steatocrit micromethod can be used for the evaluation of milk fat absorption in infants and monitoring steatorrhea instead of other more cumbersome methods.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.2
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• pp.201-206
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• 2019

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.479-486
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• 2019

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.70-76
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• 2000

Congenital biliary atresia with progressive sclerosis of the intra- and extra-hepatic duct system occurs in 1 : 10,000 live births, and has a poor prognosis with an expected survival of less than 5 years. Etiology of biliary atresia is unclear, however, it is believed a genetic or developmental cause. The clinical characteristics include pronounced jaundice, hepatosplenomegaly, pruritus, steatorrhea, xanthomas, growth retardation, portal hypertension, bleedings, ascites and respiratory infections. Oral manifestations have seldom been reported in patients with biliary atresia, but there may be enamel hypoplasia, delayed tooth eruption, and green teeth. Early diagnosis and surgical intervention have decreased morbidity. returned growth and development to normal and improved the prognosis for survival. Authors report the clinical and radiologic characteristics, proper managements about two cases with biliary atresia.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.400-405
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• 2004

Biliary atresia is defined as a complete obstruction of bile flow owing to destruction or absence of all or part of the extrahepatic bile ducts. This disease is occurring in approximately 1:10,000 live births and moderate predominance of female is noted. The etiology of biliary atresia remained unsolved. The signs and symptoms are hyperbilirubinemla, jaundice, clay-colored stools, steatorrhea, dark yellow urine and hepatomegaly. Currently biliary atresia is best managed by hepatic portoenterostomy with or without liver transplantation. Biliary atresia patients with these cases showed staining of the teeth. The stains ranged in color from yellowish-brown to deep green. Enamel hypoplasia was all erupted teeth present. Patients had poor oral hygiene and rampant caries.

• Advances in pediatric surgery
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• v.16 no.1
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• pp.18-24
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• 2010

Pancreaticoduodenectomy is the treatment of choice for adult periampullary lesions. However there has been no studies on the clinical outcomes of pancreaticoduodenectomy in children. To evaluate the clinical outcomes, records of 13 patients who underwent pancreaticoduodenectomy, from 1989 to 2009, at Seoul National University Children's Hospital were reviewed. Mean follow up period was 83 (2-204) months, the male to female ratio was 1:3.3, and the mean age was 11 (2-14) years. Ten patients underwent PPPD and 3 patients had Whipple's operation. The postoperative diagnosis included solid pseudopapillary tumor (9), cavernous hemangioma (1), pseudocyst (1), benign cyst (1), pancreatic disruption (1). Two patients developed postoperative adhesive ileus and among them one patient required operative intervention. Four patients required pancreatin supplementation due to steatorrhea and other gastrointestinal symptoms. There were no postoperative mortality during the follow up period and no evidence of recurrence in SPT patients. This study demonstrates that the pancreaticoduodenectomy procedure in children is not only feasible but also safe, with no mortality and an acceptable complication rate.