A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism / 소아과

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

Total Knee Arthroplasty Using an Intra-Articular Correction Method in Patients with Extra-Articular Deformity of the Femur / 대한정형외과학회잡지

PURPOSE: To investigate the result of total knee arthroplasty (TKA) using an intra-articular correction in patients with extra-articular deformity of the femur. MATERIALS AND METHODS: We performed 23 TKAs in 23 patients with extra-articular deformity of the femur. The mean age was 58.0 years and the follow-up period averaged 54.7 months. The American Knee Society's knee and function score were evaluated, and the mechanical axis (MA) was measured. Sixteen knees with a deformity in the distal third of the femur were assigned to group I and 7 knees with a deformity in the proximal or middle third were assigned to group II. Between groups differences in results were analyzed. RESULTS: The average knee score was 47.8 preoperatively and 91.6 at the last follow-up. The average function score was 46.9 preoperatively and 89.1 at the last follow-up. The MA averaged varus was 7.7degrees preoperatively and 1.0degrees postoperatively. The average knee score at the last follow-up was 90.1 in group I and 95.0 in group II. The average function score at the last follow-up was 87.8 in group I and 92.1 in group II. The MA averaged varus was 2.0degrees in group I and 1.3degrees in group II (p=0.042). CONCLUSION: TKA in conjunction with intra-articular correction produced satisfactory results for patients with an extra-articular deformity of femur. The possibility of incomplete correction of limb alignment should be carefully considered, especially in cases with a severe deformity at the distal third of the femur.

Virilizing Adrenocortical Oncocytoma in a Child: A Case Report

Functioning adrenocortical oncocytomas are extremely rare and most reported patients are 40-60 yr of age. To our knowledge, only 2 cases of functioning adrenocortical oncocytomas have been reported in childhood. We report a case of functioning adrenocortical oncocytoma in a 14-yr-old female child presenting with virilization. She presented with deepening of the voice and excessive hair growth, and elevation of plasma testosterone and dehydroepiandrosterone sulfate. She had an adrenalectomy. The completely resected tumor composed predominantly of oncocytes without atypical mitosis and necrosis. A discussion of this case and a review of the literature on this entity are presented.

Gastric Inflammatory Fibroid Polyp Resected by Endoscopic Submucosal Dissection / 대한소화기내시경학회지

Inflammatory fibroid polyp (IFP) is a rare benign fibroproliferative disease that arises from the submucosal layer of the gastrointestinal tract. Surgical resection has been performed in most cases and the application of endoscopic resection is rare. Endoscopic submucosal dissection (ESD), which was recently introduced, enables en-bloc resection of a tumor regardless of the tumor size and location. Since IFP is benign, ESD can be very useful for both the diagnosis and treatment of a large-sized IFP. A 45-year-old woman was referred for the management of a gastric mass. Esophagogastroduodenoscopy showed a round submucosal mass with a central bulging at the gastric body. Endoscopic ultrasonography showed a 3.5x3.0 cm-sized hypoechoic mass in the third layer of the stomach. The tumor was removed by ESD with using a hook knife for complete en-bloc resection. The pathologic finding was compatible with the diagnosis of IFP. We report here on a case of IFP that presented as a gastric submucosal tumor and it was treated by the ESD method.

Factors for persistent growth hormone deficiency in young adults with childhood onset growth hormone deficiency / 소아과

PURPOSE: Growth hormone (GH) replacement after retesting is necessary because impairment of body composition and cardiovascular health has been more severe in adult patients with persistent GH deficiency (GHD) from childhood to adulthood. This study aimed to investigate the factors for persistent GHD and define a highly probable group of persistent GHD in young adults with childhood-onset GHD. METHODS: GHD was reassessed by insulin tolerance test (ITT) in 55 adult patients (39 males, 16 females) with childhood-onset GHD. Twelve patients presented with idiopathic GHD and 43 patients presented with organic GHD caused by tumors involving the hypothalamus-pituitary (H-P) region (n=33), other brain tumors (n=3), meningitis (n=3), leukemia (n=2) and others (n=2). RESULTS: Forty-nine (89.1%) of 55 patients had persistent GHD. IGF-I was positively correlated with log of peak GH (r=0.57, P<0.001). There was no difference in the proportion of persistent GHD between idiopathic and organic GHD. The percentage of patients with persistent GHD was 40%, 80%, and 95.6% for patients with zero, one, two or more additional pituitary hormone deficiencies (PHDs), respectively (P=0.002). The probability of persistent GHD was higher in patients with diseases involving the H-P region (P=0.003). GHD persisted in 15 of 18 patients treated with cranial irradiation. CONCLUSION: We suggest that the probability of persistent GHD in adulthood was high in patients with 2 or more additional PHDs, and diseases involving the H-P region.

Congenital Hemidiaphragmatic Agenesis Presenting as Reversible Mesenteroaxial Gastric Volvulus and Diaphragmatic Hernia: A Case Report

A 70-yr-old woman complained of left sided chest pain and non-bilious vomiting for four days after taking a gastric bloating agent for an upper gastrointestinal study. The chest radiography revealed gastric air-fluid levels and bowel loops in the left thoracic cavity. An emergency thoracotomy was performed. The abdominal organs (stomach, spleen, splenic flexure of the colon) were in the left thorax and the entire left hemidiaphragm was absent. There were no diaphragmatic remnants visible for reconstruction of the left diaphragm. We provided warm saline irrigation and performed a left lower lobe adhesiotomy. Thirteen days after surgery, the chest radiography showed improvement in the herniation but mild haziness remained at the left lower lung field. Here we present the oldest case of congenital diaphragmatic agenesis presenting with transient gastric volvulus and diaphragmatic hernia.

Congenital Hemidiaphragmatic Agenesis Presenting as Reversible Mesenteroaxial Gastric Volvulus and Diaphragmatic Hernia: A Case Report

A 70-yr-old woman complained of left sided chest pain and non-bilious vomiting for four days after taking a gastric bloating agent for an upper gastrointestinal study. The chest radiography revealed gastric air-fluid levels and bowel loops in the left thoracic cavity. An emergency thoracotomy was performed. The abdominal organs (stomach, spleen, splenic flexure of the colon) were in the left thorax and the entire left hemidiaphragm was absent. There were no diaphragmatic remnants visible for reconstruction of the left diaphragm. We provided warm saline irrigation and performed a left lower lobe adhesiotomy. Thirteen days after surgery, the chest radiography showed improvement in the herniation but mild haziness remained at the left lower lung field. Here we present the oldest case of congenital diaphragmatic agenesis presenting with transient gastric volvulus and diaphragmatic hernia.

Change in the serologic markers of hepatitis B after allogenic hematopoietic stem-cell transplantation / 대한간학회지

BACKGROUND/AIMS: This study examined the effects of hepatitis B virus (HBV) infection state and immunologic capability in both the recipients and donors of allogenic hematopoietic stem-cell transplantation (allo-HSCT) on changes in HBV serologic markers in recipients. METHODS: A total of 537 patients underwent allo-HSCT for the treatment of leukemia, malignant lymphoma, and solid tumor. HBV serologic markers were examined in both recipients and donors prior to and following the transplantation. The mean follow-up period was 36.6 months (range 3-80 months). RESULTS: Of the 537 patients who underwent allo-HSCT, 45 recipients were positive for HBsAg prior to transplantation. Of these 45 patients, 21 were transplanted from anti-HBs-positive donors and the remaining 24 were transplanted from anti-HBs-negative donors. In the former cases, seroconversion was noted in 4 of the 21 patients (19%). In the latter cases, however, no seroconversion was noted following the transplantation. Thirty patients who were negative for both HBsAg and anti-HBs were transplanted from anti-HBs-positive donors, and 15 out of 30 patients (50%) acquired anti-HBs. Four hundred and seven patients who were positive for anti-HBs were transplanted from anti-HBs-positive or HbsAg-negative donors; 8 of these proved HBsAg-positive following the transplantation. There were no changes in HBV serological markers following transplantation in 41 patients who were transplanted from HbsAg-positive donors. CONCLUSIONS: Due to the adoptive immunity that was transferred from anti-HBs-positive donors, a seroconversion of HBsAg could occur in some HBsAg-positive recipients. HBsAg-positive donors had a lesser effect on the HBV serologic markers of recipients. However, a reactivation of HBV can occur following hematopoietic stem-cell transplantation in the cases of recipients or donors with a history of HBV, infection by an accompanying immune suppression. Therefore, prevention should be instigated.

A case of colonic and omental lipomatosis and omental torsion presenting with abdominal pain / 대한내과학회지

A lipoma, one of the most commonly encountered submucosal tumors in the gastrointestinal tract, usually presents as one or a few lesions. Lipomatous polyposis, which is defined as the presence of multiple lipomas in the intestinal wall, is rare. Here, we report a case of colonic lipomatous polyposis that involved not only the colon, but also the omentum and skeletal muscle. The patient presented with right lower quadrant abdominal pain and was diagnosed using colonoscopy and computed tomography (CT). The abdominal pain caused by omental torsion due to an omental lipoma resolved after conservative treatment without surgical intervention.

Long-term Effect of Recombinant Interferon-Gamma on Moderate and Severe Atopic Dermatitis in Childhood / 소아알레르기및호흡기학회지

PURPOSE: A number of studies on the treatment of atopic dermatitis have focused on the therapeutic effects of interferon-gamma (IFN-gamma) in patients with severe atopic dermatitis, although therapeutic protocols such as duration and dosage of recombinant IFN-gamma were different among studies. The beneficial effects of IFN-gamma have probably been attributed mainly to its immune modulating effect on the expression of several immunologic mediators although the mechanism of action of IFN-gamma therapy in atopic dermatitis is not clear. OBJECTIVE: The purpose of the present study was to evaluate the therapeutic effect of recombinant IFN-gamma on moderate to severe atopic dermatitis with changes in immunologic markers such as IgE level and eosionophil cationic protein (ECP). METHODS: Thirty children with moderate to severe atopic dermatitis were selected for the treatment with recombinant IFN-gamma, and 10 children with atopic dermatitis were recruited for the controls without IFN-gamma treatment. They were followed up every 4 weeks for 3 months after IFN-gamma treatment. We evaluated the SCORAD index and immunologic markers including serum IgE and ECP and total eosinophil and neutrophil counts. RESULTS: Significant clinical improvement in reduced SCORAD index was observed 12 weeks after treatment with regimen of recombinant IFN-gamma. This clinical outcome was correlated more with changes in eosinophil counts and ECP levels than with those in serum IgE levels. CONCLUSIONS: The efficacy of recombinant human IFN-gamma therapy for children with moderate to severe atopic dermatitis was maintained without serious side effects for 6 months after final injection of recombinant IFN-gamma. Recombinant IFN-gamma therapy corrected cellular immune deficits, but not humoral immune defects in patients with atopic dermatitis.

A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant

The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small size of the thorax frequently leads to respiratory insufficiency and death in neonates or infants. This syndrome also combines with various kinds of anomalies, especially renal anomalies. We report an infant with Jarcho-Levin syndrome combined with fusion of both kidneys who was referred from a local obstetric clinic for cyanosis and respiratory difficulty.

A Case of Congenital Single Ectopic Kidney in Pelvis of Patients with Proteinuria / 대한신장학회잡지

Congenital anomalies of the genitourinary tract are the most common organ system anomalies. Ectopic kidney in pelvis is a kidney located outside the renal fossa, failed migration of ureteral bud and developing metanephric blastema to the renal fossa and rare fusion anomaly of the kidneys characterized by the presence of a displaced, lobulated pelvic renal mass. Herein we report a rare case of a patient presenting with single kidney in pelvis, review literatures and discuss prognosis of this case.

A Case of ReVersible Posterior Leukoencephalopathy Syndrome (RPLS) in a Patients with Chronic Renal Failure / 대한신장학회잡지

The reVersible posterior leukoencephalopathy syndrome (RPLS) describes a syndrome of headaches, confusion, seizures, and visual disturbances associated with transient, predominantly posterior cerebral lesions revealed by neuroimaging. RPLS has been associated clinically with hypertension, immunosuppression, and known triggers include acute renal failure, eclampsia, cyclosporine, and lupus. We report a 45-year-old male with chronic renal failure showed RPLS following hemodialysis and review literatures.

A Case of Kawasaki Disease with Mycoplasma Pneumonia / 소아과

Kawasaki disease is an acute febrile vasculitis that occurs predominantly in young children under 5- years-old. The patients present generally with a high spiking fever that is unresponsive to antibiotics and lasts for more than five days at least. Prolonged fever has been shown to be a risk factor in the development of coronary artery disease. It seems to be certain that infectious agents are associated with the pathogenesis of Kawasaki disease. The differential diagnosis of Kawasaki disease must rule out infectious diseases including scarlet fever, toxic shock syndrome, measles, and so on. This is very important for adequate treatment and prevention of cardiac complications of Kawasaki disease. We experienced a 25-month-old boy who had high fever and pneumonic consolidation in the right middle and lower lobe of the lung that was considered as mycoplasma pneumonia on admission and developed coronary artery aneurysmal dilatation during treatment with roxythromycin.

Clinical Characteristics of Autoimmune Thyroid Disease Developed in Patients with Type 1 Diabetes Mellitus / 소아과

PURPOSE: It is known that 3-50 percent of type 1 diabetes mellitus(T1DM) patients develop autoimmune thyroid disease. We analyzed the clinical characteristics of autoimmune thyroid disease(AITD) developed in patients with T1DM in Korean. METHODS: The medical records of 139 patients, who were followed up in Department of Pediatrics, Seoul National University Children's Hospital from Jan. 1981 to Jul. 2004, were analyzed retrospectively. RESULTS: Forty-four males and 95 females were enrolled. At least one of the autoantibodies for thyroid was positive in 54 cases. The detection rate for AITD was not correlated with sex ratio, control of T1DM, body mass index, age at diagnosis of T1DM, and familial history of thyroid disease, between two groups. In the male group, AITD was more frequently found at a younger age than in the female group. The frequency of AITD was significantly higher in the goiter group without sex differences. In the thyroid disease group, 40 patients(74.0 percent) were euthyroid, seven patients(12.9 percent) were hypothyroid, and seven patients(12.9 percent) were hyperthyroid. CONCLUSION: We should monitor thyroid function and autoantibodies routinely in T1DM patients who develop goiters, or young boys with T1DM.

A case of acute renal failure and IgA nephropathy associated with acute hepatitis A / 대한내과학회지

Hepatitis A is usually a mild, non-fulminant, self-limiting disease of the liver. Acute renal failure, in associated with non-fulminant hepatitis A, is extremely rare and is rarely documented by kidney biopsy. Here we report the case of a 28-year old male with acute non-fulminant hepatitis A who developed acute renal failure early in the course of the disease and recovered without dialysis. In this report, renal biopsy was done. The renal biopsy showed acute tubular necrosis and IgA nephropathy. We discuss the mechanism responsible for renal failure in acute hepatitis A virus infection on the basis of presumed pathogenesis and renal biopsy.