• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.1
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• pp.56-59
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• 2008

Extrahepatic portosystemic shunts, known as Abernethy malformations, were first reported by John Abernethy in 1793. They are classified into two types: Type I refers to a congenital absence of the portal vein and Type II refers to a shunt involving a side-to-side anastomosis with reduced portal blood flow into the liver parenchyma. This malformation is so rare that less than 100 cases have been reported in the medical literature. We report the case of a 13-month-old boy who had a congenital extrahepatic portocaval shunt with a hypoplastic portal vein. This case was complicated with an atrial septal defect and a large hyperplastic nodule in the liver. The patient was diagnosed with a Type II Abernethy malformation. We planned on surgical occlusion of the extrahepatic portocaval shunt. However, six months later, the patient had a sudden onset of a fever of unknown origin and developed hepatic encephalopathy. Although he underwent a liver transplantation, he died of acute hepatic failure.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.2
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• pp.214-218
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• 2008

Primary primitive neuroectodermal tumor (PNET) of the liver is a rare disease with aggressive behavior and poor prognosis. We report a case of a PNET of the liver in a 13-year-old boy. The patient was admitted to the hospital with fever and abdominal pain. Abdominal CT and MRI revealed a 5.5 cm sized, septated, non-enhancing mass in the hepatic hilum. The patient was initially diagnosed with an inflammatory pseudotumor. Despite 9 days of antibiotic therapy, the patient's clinical symptoms did not improve. A liver biopsy was performed in the interest of formulating a differential diagnosis. This procedure revealed tumor cells positive for CD99 on immunohistochemistry. The patient was diagnosed with a PNET.

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1417-1421
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• 2002

Scoliosis describes a lateral curvature of the spine and is often associated with cosmetic and functional impairments due to severe deformity of the spine. The incidence of adolescent scoliosis is 2-4% of children between 10 and 16 years of age. Eighty five percent of them are idiopathic, in which the most common type of scoliosis is right side-bending. In addition, it is classified into congenital, and secondary scoliosis such as neuromuscular disease and neurofibromatosis. Congenital scoliosis is associated with abnormalities of urinary system(20%), congenital heart diseases(15%), and other abnormalities(10%) such as syringomyelia. We experienced a case of scoliosis by a foreign body(a pencil) in the colon which has never been reported up to date. A brief review of the literature was made.

• Childhood Kidney Diseases
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• v.2 no.1
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• pp.77-81
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• 1998

The author exprienced a case of glycogen storage disease type Ia(GSD-I) in an 18-year-old male patient who was admitted to our hospital due to proteinuria and hypertension. he was suspected to have GSD when 12 years old because of his family history of short stature and hepatomegaly. On admission, physical examination revealed short stature, heparomegaly, and The diagnosis of GSD-I was confirmed by compatible liver biopsy finding and enzyme assay which erealeddeficiency of glcose-6-phosphatase if hepatocyte. Sympromatic treatment was done using antihypertensive drugs and allopurinol with diet control. The authors report a case of glycogen storage disease type Ia completely confirmed by typical clinical manifestation, pathologic findings of the liver and the kidney, and the result of enzyme assay which revealed deficiency of glucose-6-phosphatase in hepatocytes with brief review fo related literatures.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Journal of the Korean Society of Radiology
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• v.83 no.1
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• pp.127-137
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• 2022

Purpose To assess the prevalence of incidentally detected lumbar spondylolysis in children. Materials and Methods We retrospectively reviewed the data of 809 patients under the age of 11 years (mean age, 7.0 ± 2.7 years; boys:girls = 479:330) who underwent abdominal and pelvic CT between March 2014 and December 2018. We recorded the presence, level, and laterality (unilateral or bilateral) of spondylolysis. Patients were divided into two groups based on the presence of spondylolysis: the spondylolysis (SP) and non-SP groups. Results In total, 21 cases of spondylolysis were detected in 20 patients (20/809, 2.5%). The mean age of the SP group was higher than that of the non-SP group (7.8 ± 1.8 vs. 6.9 ± 2.7 years, p > 0.05). The prevalence of spondylolysis in boys was higher than that in girls (15/479 [3.1%] vs. 5/330 [1.5%], p > 0.05). The prevalence of spondylolysis in school-age children (6-10 year olds) was higher than that in preschool-age children (0-5 year olds) (17/538 [3.2%] vs. 3/271 [1.1%], p > 0.05). L5 was the most common level of spondylolysis (76.2%); one 8-year-old boy had two-level spondylolysis. One case of isthmic spondylolisthesis was detected in a 10-year-old boy (1/809, 0.1%). There were 11 unilateral spondylolysis cases (11/21, 52.4%). Conclusion In our study, the prevalence of spondylolysis in children under the age of 11 was 2.5%. The prevalence was higher in boys than in girls and in school-age than in preschool-age children, despite the lack of any statistically significant differences.