• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.9 no.1
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• pp.75-79
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• 2006

Intussusception is a frequent cause of intestinal obstruction in early childhood and most are idiopathic in origin. In a minority of cases a definite pathological lead point is identified by imaging studying or during surgery. As the pathologic lead point of intussusception, Meckel's diverticulum is the most common lesion. In symptomatic patients, 40~60% of Meckel's diverticulum contain ectopic tissue, with gastric mucosa being far the most common type. A few Meckel's diverticulum contain pancreatic tissue. Combined heterotopic pancreatic and gastric tissues in the Meckel's diverticulum especially causing intussusception is extremely rare. We report the case of 5-year-old girl with an intussusception caused by Meckel's diverticulum containing both heterotopic gastric and pancreatic tissues.

• Advances in pediatric surgery
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• v.11 no.2
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• pp.115-122
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• 2005

Falls from a height are the leading cause of injury and death among urban children. This study describes the incidence, clinical characteristics, and treatment results of children under 15 year of age who fell from a height of more than one meter and were admitted for abdominal injury. The medical records of 585 consecutive patients treated between January 1997 and December 2003 at Ewha Womans University Mokdong Hospital were analyzed retrospectively. The falling heights were 1 to 31.2 meters, and 28 patients(4.8 %) suffered from blunt abdominal trauma. The male to female ratio was 2.1: 1. The median age of the victims was 5.5 years, and the median height fallen was 3 meters. Fifteen patients (53.6 %) were injured during the summer and seventy-nine percent of the falls occurred between noon and 9 pm. Eighteen (64.3 %) of falls occurred in residential place and 19(67.8 %) of patients arrived at the emergency department within 30 minutes of the accident. Only 16 patients (57.1 %) complained of abdominal pain. Liver injuries were found in 12(42.9 %), spleen injuries in 5(17.9 %), kidney injuries 3(10.7 %), pancreatic injuries in 1(3.6 %) and nonspecific abdominal injuries in 9(32.1 %) cases. Increased SGOT and SGPT were found in 23(82.2 %) and 18(64.3 %) cases. Eleven patients (39.3 %) had associated head injuries. Limb injuries were present in 17.9% and thoracic injuries in 7.1%. Twenty-five patients (89.3 %) recovered without operation. The median length of hospital stay was 6 days (2 -20 days). Despite the absence of abdominal symptoms or shock, falls from a height in children may carry significant intra-abdominal organ injuries. The height falling could not predict the degree of the abdominal injury. For the evaluation of potential abdominal injuries, CT scan should be utilized.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.1
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• pp.108-112
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• 2002

Solid and papillary epithelial neoplasm (SPEN) of the pancreas is an uncommon tumor and is found predominantly in young females. The most common clinical presentation is an abdominal mass. The tumor has a low grade malignant potential and complete removal is the treatment of choice. We report a case of SPEN in a 13-year-old girl who presented with abdominal pain and increasing size of an abdominal mass after abdominal trauma. CT and sonographic findings showed a well-demarcated mass in the pancreas tail with solid and cystic portion. She got a distal pancreatectomy and pathologic finding was SPEN of pancreas.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.16-23
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• 2004

Purpose: In this study, we tried to evaluate the clinical characteristics or circumstances that lead to unintentionally the delay in the diagnosis of intussusception or to the wrong direction that prevent the proper management early. Methods: All the patients of intussusception with delayed diagnosis in the department of pediatrics or emergency room at Gyeongsang National University Hospital from 1990 to 2003 were enrolled and reviewed retrospectively. Results: There were 8 boys and 6 girls and their median age was 8 months (range 2 months to 10 years). Their initial symptoms and signs were vomiting, seizure, diarrhea, lethargy, irritability, bloody stool, palpable abdominal mass, foul odor of urine and tachycardia. Clinical diagnosis or impressions at admission consisted of acute gastroenteritis, shigellosis and toxic encephalopathy, convulsive disorders, urinary tract infections, sepsis, abdominal mass and intestinal obstruction. Eight patients were luckily diagnosed due to the delayed manifestations of cyclic irritability or currant jelly stool. Six patients were not paid attentions for the possibilities of intussusception and diagnosed serendipitiously by the abdominal sonography or CT during the evaluation of the abdominal mass or distension. Only five of 14 cases (35.7%) were successfully managed by barium or air reductions. The other 9 cases needed surgical operations. Conclusion: Delayed diagnosis of intussusception arise when doctors initially diagnose the patients incorrectly due to the unusual presentations or when they overlook the newly arising symptoms or signs suggestive intussusception after the admission because they are ardently attached to the first impressions or initial clinical diagnosis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.13 no.1
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• pp.86-91
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• 2010

Retroperitoneal cystic lymphangiomas are benign, extremely rare tumors. Although surgical resection is the treatment of choice, sclerotherapy should be considered initially. A 9-year-old boy was admitted due do worsening abdominal pain of 4 days duration. Serial complete blood counts revealed a hemoglobin level of 12.8 g/dL on admission to 10.6 g/dL on hospital day 3. An abdominal computed tomography (CT) scan showed a large, lobulated, septated, retroperitoneal cystic mass ($10{\times}9.5{\times}5cm$) in the left anterior pararenal space with intracystic hemorrhage surrounding the inferior mesenteric vein (IMV). Because of the high operative risk, we performed a tubogram of the cystic mass, percutaneous catheter drainage (PCD), and ethanol sclerotherapy. The follow-up abdominal CT scan showed that the cystic mass had decreased in size. He is well without relapse of the retroperitoneal cystic mass for 13 months after discharge. Sclerotherapy with PCD should be considered as initial therapy for patients with retroperitoneal cystic lymphangiomas at high surgical risk.

• Journal of Radiation Protection and Research
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• v.27 no.3
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• pp.155-164
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• 2002

Methodology to evaluate the effective doses to adults undergoing various diagnostic x-ray examinations were established by Monte Carlo simulation of the x-ray examinations. Anthropomorphic mathematical phantoms, the MIRD5 male phantom and the ORNL female phantom, were used as the target body and x-ray spectra were produced by the x-ray spectrum generation code SPEC78. The computational procedure was validated by comparing the resulting doses to the results of NRPB studies for the same diagnostic procedures. The effective doses as well as the organ doses due to chest, abdomen, head and spine examinations were calculated for x-rays incident from AP, PA, LLAT and RLAT directions. For instance, the effective doses from the most common procedures, chest PA and abdomen AP, were 0.029 mSv and 0.44 mSv, respectively. The fact that the effective dose from PA chest x-ray is far lower than the traditional value of 0.3 mSv(or 30 mrem), which results partly from the advances of technology in diagnostic radiology and partly from the differences in the dose concept employed, emphasizes necessities of intensive assessment of the patient doses in wide ranges of medical exposures. The methodology and tools established in this study can easily be applied to dose assessments for other radiology procedures; dose from CT examinations, dose to the fetus due to examinations of pregnant women, dose from pediatric radiology.

• Advances in pediatric surgery
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• v.5 no.1
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• pp.15-25
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• 1999

Injured spleens have been successfully managed without operation in a number of children; however, splenectomy or splenic-conserving surgery may not be avoided because of exsanguinating hemorrhage. This study was performed to evaluate the efficacy of splenic arterial embolization (SAE) to control hemorrhage from injured spleens in children. We compared the outcomes of two groups of children with splenic injury. The first group (G1) consisted of eighteen children who were managed with conventional selective nonoperative treatment between 1993 and 1994. The second group (G2) consisted of 23 children prospectively studied from 1996 to 1997 after SAE was added in the management protocol of splenic injury. The criteria for SAE were grade III or IV injury, extravasation of contrast material revealed by CT, or unstable vital signs without evidence of associated injuries. Laparotomy was performed in 6 patients of G1 (33.3 %), 2 of whom had associated injuries. Five underwent splenectomy and the overall salvage rate in G1 was 72.2 % (13/18). In G2, eight patients (34.8 %) had SAE, which stopped bleeding successfully in all patients. Two of G2 (8.7 %) had laparotomy because of associated injuries. Only one patient underwent splenectomy and the salvage rate was 95.6 % (22/23). No patients required transfusion after SAE. In conclusion, the SAE effectively controlled hemorrhage from injured spleens. More spleens were salvaged with a reduced laparotomy rate after application of SAE in splenic injury.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.54-60
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• 2004

Purpose: Henoch-$Sch{\ddot{o}}nlein$ purpura (HSP) is a small-vessel vasculitic disease that most often affects the skin. Abdominal symptoms precede the typical purpuric rash of HSP in 14~36%. It is a challenge to diagnose HSP in the absence of a rash, because there are no biologic tests that can identify HSP with certainty, so we tried to find out the characteristic features of HSP gastroenteropathy without purpura before diagnosis. Methods: This study included 82 children with HSP who had been admitted or visited outward of the Department of Pediatrics, Pusan National University Hospital from 1995 to 2000. The cases that the onset of purpura preceded or coincided that of abdominal pain were defined as purpura-positive group. The cases that the onset of abdominal pain preceded purpura more than 1 week and purpura was not presented till diagnosed as HSP gastroenteropathy were defined as purpura-negative group. We compared and analyzed the clinical features of the two groups by reviewing the medical records retrospectively. To ensure the diagnosis of HSP gastroenteropathy, we conducted upper GI series, abdominal ultrasonogram, abdominal CT, endoscopy and/or skin biopsy. Results: The number of cases of purpura-positive group and purpura-negative group were 72 and 10, respectively. There is no difference between two groups in the incidence of clinical symptoms and laboratory findings. Children with HSP gastroenteropathy had characteristic erosive or ulcerative lesions in the stomach or duodenum on esophagogastroduodenoscopy, or mural thickening of the small bowel on abdominal ultrasonogram, CT or upper GI series. Skin biopsy revealed leukocytoclastic vasculitis in 3 of them, although biopsy specimen was taken from any areas of normal- appearing skin. In purpura-negative group, 9 patients improved by steroid therapy. Conclusion: In purpura-negative group, there is no diagnostic feature on the laboratory findings and clinical features. Therefore, to diagnose HSP gastroenteropathy in patients with abdominal pain in the absence of the characteristic rash, careful observation of clinical features and laboratory data, and prompt application of available diagnostic tools such as gastrointestinal endoscopy, radiologic study and skin biopsy are recommended. Early use of corticosteroid may reduce the suffering in these patients.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.196-202
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• 1999

Purpose : When the mature kidney fails to reach its norml location in the renal fossa, the condition is known as ectopic kidney. Presenting symtoms can be various and it generally depend on the associated anomaly. Beside urologic anomalies such as hydronephrosis and vesicoureteral reflux, various anomalous vascular net work, skeletal anomaly or genital anomaly can be observed in this condition. Methods : Sixteen children with ectopic kidney was studied retrospectively to analyse initial presentation, accompanied anomaly and prognosis. Results : 56% of the children were accompanied with other urologic anomalies such as true incontinence and vesicoureteral reflux that required surgical treatment. 31% of children were either diagnosed incidentally during evaluation of other non-urologic disease or during follow-up evaluation of abnormal antenatal renal sonogram. Conclusion : Ectopic kidney can be often misdiagnosed as tumorous condition or as a surgical condition depend on the abnormal location of the kidney. Careful evaluation using abdominal sonogram, DMSA, VCUG and abdominal CT scan should be performed in order to search for associated anomalous condition and for proper management.