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Duodenal duplication cysts are rare congenital anomalies. Duodenal duplication should be considered in the differential diagnosis of patients who present with abdominal symptoms with cystic structures neighboring the duodenum. Here, we present an 8-year-old girl with a duodenal duplication cyst treated with partial cystectomy with mucosal stripping performed laparoscopically. Laparoscopic surgery can be considered as a treatment option for duodenal duplication cysts, especially in extraluminal locations.

Chronic granulomatous disease (CGD) is an inherited immunodeficient disease characterized by recurrent infections and granuloma formation. Granulomatous obstruction of esophagus is one of the rare complications of CGD. The use of steroids and antimicrobials for esophageal obstruction by granuloma in CGD patients has been controversial due to the possibility of concomitant inapparent infection. We report a case of esophageal obstruction in an 8-year-old CGD patient showing the poor response to antibiotics therapy. However, dramatic improvement of symptoms and radiologic findings of esophageal obstruction were achieved after steroid therapy. One month after discontinuation of steroid, esophageal obstruction recurred and the patient was re-treated with steroid. After that time, he experienced one more recurrence of esophageal obstruction. This symptom subsided after antibiotics therapy without steroid and he has been followed up to the present without further relapse.

Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG) vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonography and CT scanning revealed multiple nodules in the spleen, and portocaval lymphadenopathy.

Extracardiac rhabdomyoma is a rare benign neoplasm of skeletal muscle differentiation. It occurs most often in the head and neck, but only four cases with occurrence in the orbit have been reported in the literature. A 3-month-old infant presented with right proptosis. MRI showed an enhancing intraconal mass in the right orbit, which appeared isointense on TI-weighted images and hypointense on T2-weighted images. The mass was removed and diagnosed as rhabdomyoma. It recurred 8 months after surgery. MR imaging features can be helpful for the diagnosis.

We report a 13-year-old girl with an unusual, complex bronchopulmonary foregut malformation. The malformation included extralobar pulmonary sequestration and a duplication cyst of mixed bronchogenic and oesophageal type. Preoperative CT and MRI demonstrated the cystic and solid portions of the mass and indicated an aberrant vascular supply, suggesting the possibility of bronchopulmonary foregut malformation and several other differential diagnoses. A direct communication between the cyst and the bronchus of the sequestrated lung was found on pathological examination. This unusual combination of an extralobar pulmonary sequestration and a foregut cyst points to a common embryological pathogenesis.

Meningioangiomatosis is a rare, benign neoplastic disorder involving the cortex and leptomeninges. The pathological findings are characterised by proliferation of meningothelial cells and leptomeningeal vessels and calcifications within the mass. We experienced two cases of pathologically confirmed meningioangiomatosis, one as a solitary cortical mass with calcification and the other as a cortical lesion manifested as extensive intracranial haemorrhage. On MRI, the first case showed an isointense cortical mass in the left frontal lobe and homogeneous enhancement on the contrast-enhanced study. The second case showed a target-like lesion with a peripheral dark signal rim on T2-weighted images accompanied by extensive haemorrhage in the adjacent frontal lobe and lateral ventricles.

The purpose of this study was to assess the usefulness of transperineal ultrasonography in identifying the internal fistula in cases of imperforate anus. Transperineal ultrasonography was performed in 19 infants (13 neonates and 6 older infants; 13 were male and 6 were female) with imperforate anus to identify the internal fistula. Sagittal plane images were obtained through the anal dimple, and the internal connection of the rectal fistula was traced. The ultrasonographically traced internal fistula was compared with that observed on distal loopography after colostomy or with surgical findings. The internal fistula was identified as a hypoechoic linear tract, containing linear echogenicity in some cases. Of 19 patients, internal fistulas were correctly identified in 16 patients; these were rectourethral (n = 12), rectovaginal (n = 1), rectovestibular (n = 1), rectovesical (n = 1), and rectocloacal (n = 1). In three patients, internal fistulas were incorrectly defined; these cases consisted of rectovestibular (n = 2) and rectovaginal (n = 1) fistulas. Internal fistulas were correctly identified in all of the 13 male patients and in 3 of 6 female patients. Transperineal ultrasonography is an excellent diagnostic modality to define the type of the internal fistula in imperforate anus.

Neonatal-onset inflammatory bowel disease (IBD) accounts for only 0.25% of pediatric IBD cases. The molecular pathogenesis of IBD remains unclear. Recently, rare Mendelian mutations have been identified in children with very early-onset Crohn's disease and ulcerative colitis. In this study, we report compound heterozygous mutations in the interleukin-10 receptor A (IL-10RA) gene in children with severe neonatal-onset IBD. Patient 1 had chronic diarrhea within the first month of life and had perianal fistulae. She was diagnosed with 'intractable ulcerating enterocolitis in infancy' and underwent subtotal colectomy at the age of 24 months because of poor response to immunosuppressant therapy. Compound heterozygous mutations, c.[301C>T];[350G>A](p.[R101W];[R117H]), were discovered in IL-10RA for this patient. Patient 2 presented symptoms within the first month of life and was diagnosed with Crohn's disease. Severe colitis and perianal and enteroenteric fistulae occurred repeatedly, and he underwent surgical management involving colectomy, colostomy, and ileostomy. We identified mutations in IL-10RA, c.[272A>G];[784C>T] (p.[Y91C];[R262C]). Patient 3 had chronic diarrhea and a rectovaginal fistula at 3 days of life and was diagnosed with Crohn's disease. She underwent fistulectomy and ileostomy, but experienced frequent relapses. Mutations, c.[272A>G];[301C>T] (p.[Y91C];[R101W]), were found in IL-10RA. This report confirms the genetic defect of IL-10RA in neonatal-onset IBD including 'intractable ulcerating enterocolitis in infancy'.

Fat embolism syndrome is a serious complication that can occur after trauma or operation of the limbs. Clinical criteria are used for the diagnosis of fat embolism syndrome and sometimes radiologic findings are helpful. Fat embolism syndrome is known to occur less frequently in children than in adults, but there is an increased risk in children with connective tissue disease. However, there are only a few reported cases of fat embolism syndrome in juvenile rheumatoid arthritis which is the most common connective tissue disease in children. We report a case of fat embolism syndrome diagnosed in a 13-year-old boy with juvenile rheumatoid arthritis, which was treated with corticosteroid. (�������� ������ ������ ����(���������������

middle third or distal third of’ the lung [2]. On high-resolution CT scans. bronchiectasis is recognized when a bronchus seen in cross section is larger than its accompanying branch of the pulmonary artery. Bronchiectasis is always present in older children who have cystic fibrosis (Fig. I) and is increasingly being detected in children with previous viral or tuherculous infection and some children who have resistant asthma, immotile-cilia syndrome. or immunodeficiency 131. Bronchiectasis is difficult to diagnose in patients with concurrent active parenchymal consolidation or with mucus-filled bronchi. Centrilobular opacities reflect peribronchiolar inflammation or peribronchiolar fibrosis. Such opacities are characteristically seen in patients with diseases of the small airways, such as cystic fibrosis and transbronchial spread of tuberculosis. On high-resolution CT scans. abnormal bronchioles filled with fluid. mucus. or pus appear as centrilobular tubular. branching. or nodular structures (Fig. 1).

The purpose of this study was to analyze the peculiar involvement of the gallbladder in childhood metachromatic leukodystrophy. Seven consecutive children (four boys, three girls ; age range, 9 to 58 months old ; mean age, 24.3 months) with biochemically confirmed metachromatic leukodystrophy were studied with abdominal ultrasonography. Four of them showed abnormal findings, such as diffuse thickening of the gallbladder wall (more than 3 mm thick), sludge-like echogenic material, or papillary polypoid ingrowth of inner wall obliterating the lumen. In childhood metachromatic leukodystrophy, the characteristic abnormality of the gallbladder on ultrasonography may serve as an ancillary diagnostic clue to supplement the clinical and MR imaging findings, facilitating the differential diagnosis from the other, similar leukodystrophies.

Our goal was to evaluate US and CT findings of pancreatoblastoma. Three US and four CT scans before surgery and one follow-up CT after surgery were reviewed in four patients (two female, two male) with pathologically proven pancreatoblastoma. The mean age of the patients was 4 years (range 2-5 years). The masses were analyzed for origin, US and CT architecture, presence of calcification, enhancement pattern, and metastatic spread. In two patients, the tumors arose from the pancreatic head and in one patient from the pancreatic tail. The mean largest diameter of the masses was 10 cm, ranging from 5 to 14 cm. Sonography obtained from three cases showed mixed echogenic solid mass. On the CT scan, all tumors were huge, lobulated masses with heterogeneous attenuation. One tumor contained numerous foci of calcification. On the enhanced CT scan, three tumors showed multiloculated appearance by enhancing internal septations. There was no evidence of metastasis to distant organ or abdominal lymph node in any case. We suggest that the most common US finding of pancreatoblastoma is a mixed echogenic, solid mass inseparable from the pancreas, and the most common CT finding is a relatively well defined, lobulated, huge mass with multiloculated appearance bymore » enhancing septae in or near the lesser sac. 9 refs., 4 figs.« less

The purpose of this study was to describe the computed tomography (CT) findings of undifferentiated embryonal sarcoma after chemotherapy and to correlate the CT imaging findings with pathologic findings. Ten CT images obtained before and after chemotherapy in four patients with hepatic undifferentiated embryonal sarcoma were retrospectively reviewed and correlated with pathologic findings. After chemotherapy, tumor volume decreased by 50–90% and initially nonresectable tumor or gross residual tumor was successfully excised in three patients. In all patients, enhancing peripheral solid portions and septations changed to low-attenuation areas, and in three patients increased or de novo calcifications were found at the periphery of the tumor. Resected pathologic specimen after chemotherapy showed well-encapsulated masses with central necrosis, fibrosis, and dystrophic calcifications. These CT findings will be useful in monitoring the treatment response of hepatic undifferentiated embryonal sarcoma during chemotherapy.

We report a rare case of cystic intrapulmonary lymphangioma involving the left lung, which presented with pneumothorax and respiratory distress in a 6-month-old infant. Chest radiographs showed a multicystic lesion in the left lung mimicking the features of congenital cystic adenomatoid malformation of the lung. The lesion appeared on high-resolution CT (HRCT) as a multiseptate, air-filled cystic lesion in the left hilar area. Associated HRCT findings were thickening of interlobular septa and bronchovascular bundles in the left lung and the presence of peripheral pulmonary vessels within cystic lesions in the apex of the left lung. HRCT findings correlated well with histopathologic findings. We suggest that these associated findings may be helpful in distinguishing this condition from other cystic lung diseases and that this entity should be included in the differential diagnosis of multicystic lung lesions.

MR findings of a patient with hemolytic uremic syndrome involving the CNS are described. Abnormal high signal intensity on T2-weighted images combined with swelling in the lentiform nucleus, posterior limb of internal capsule, external capsule bilaterally, and left extreme capsule was shown on initial MR; a small low signal intensity in the left putamen on T1- and T2-weighted images and generalized atrophy in the area of high signal intensity on previous T2-weighted images was shown on follow-up MR. These findings indicate infarct with focal hemorrhage, which is one of the histopathological features of CNS complication in hemolytic uremic syndrome.

Castleman disease is a relatively rare disorder affecting young adults. We present the CT and ultrasonographic findings of Castleman disease in two children. In one patient with hyaline-vascular type disease, CT showed a well-enhancing mass in the right paratracheal area. In a second patient with plasma cell type disease, there was a solid, homogeneous mass in the retroperitoneal space which was poorly enhancing. Ultrasound showed a uniform hypoechogenic mass in both cases.

We present the CT findings of pulmonary paragonimiasis in a 9-year-old girl. It appeared as a large cystic mass with an air-fluid level and simulated a lung abscess. Communication with a segmental bronchus was demonstrated well on a CT scan obtained after aspiration.

We report a 5-year-old boy with endodermal sinus tumour associated with benign cystic teratoma of the common bile duct (CBD). To our knowledge, there has been one case of teratoma of the CBD in the English literature with no morphological or radiological description. Our case presented a lobulated polypoid mass obstructing the distal CBD on sonography and computed tomography, which resembled the botryoid masses of rhabdomyosarcoma.

Erratum to: Pediatr RadiolDOI 10.1007/s00247-010-1806-4The first author’s initials are incorrect in the materials andmethods section, under US. The first sentence of thatsection should read as follows:“A pediatric radiologist (H-YK) with 8 years’ experience inpediatric radiology and 5 years’ experience in bowelsonography performed transabdominal sonography with a10-MHz linear probe (IU 22; Philips, Bothel, WA, USA).”

Objective: We retrospectively evaluated the effectiveness of the esophagealballoon dilatation (EBD) in children with a corrosive esophageal stricture.Materials and Methods: The study subjects included 14 patients (M:F = 8:6,age range: 17 -85 months) who underwent an EBD due to a corrosiveesophageal stricture. The causative agents for the condition were glacial aceticacid (n = 9) and lye (n = 5).Results: A total of 52 EBD sessions were performed in 14 patients (range 1-8sessions). During the mean 15-month follow-up period (range 1 -79 months), 12patients (86%) underwent additional EBD due to recurrent esophageal stricture.Dysphagia improved after each EBD session and oral feeding was possiblebetween EBD sessions. Long-term success (defined as dysphagia relief for atleast 12 months after the last EBD) was achieved in two patients (14%).Temporary success of EBD (defined as dysphagia relief for at least one monthafter the EBD session) was achieved in 17 out of 52 sessions (33%). A submu-cosal tear of the esophagus was observed in two (4%) sessions of EBD.Conclusion: Only a limited number of children with corrosive esophageal stric-tures were considered cured by EBD. However, the outcome of repeated EBDwas sufficient to allow the children to eat per os prior to surgical management.he accidental ingestion of a corrosive substance is a common cause ofesophageal strictures in children (1). Corrosive substances, whether acidor alkali, can both cause significant esophageal strictures, thoughreactions differ (i.e., acids cause coagulation necrosis of the mucosa, whereas alkalis,like lye, produce liquefaction necrosis that may penetrate deeper layers includingmuscular layers) (2). Because glacial acetic acid is still used domestically by some as afood seasoning in East Asia, the occurrence of accidental acid ingestion and ofsubsequent corrosive esophageal stricture development is more frequent in East Asiathan in other parts of the world (3, 4).Treatment for esophageal strictures in children has evolved from surgical revision, toesophageal bougienage, and to the currently used esophageal balloon dilatation (EBD)(5). Since London et al. (6) reported the successful treatment of esophageal strictureswith a Gruentzig-type balloon catheter in 1981, EBD has been accepted as a safe andeffective treatment for benign esophageal strictures (2, 7-9). In infants and children,this technique has been primarily used to treat anastomotic strictures resulting fromsurgery for esophageal atresia (7-10). However, although EBD is considered as a safeand effective treatment for esophageal stricture, to the best of our knowledge, itssafety and effectiveness for the treatment of corrosive esophageal stricture in childrenhas rarely been reported (11-14). The purpose of our study was to retrospectivelyByung Jae Youn, MDWoo Sun Kim, MDJung-Eun Cheon, MDWha-Young Kim, MDSu-Mi Shin, MDIn-One Kim, MDKyung Mo Yeon, MD

Purpose: Intussusception is one of the most common causes of an acute abdomen in infancy. The majority of pediatric cases of intussusception are of the ileocolic type and usually idiopathic. Small bowel intussusception is rarely diagnosed in children, and few cases have been reported. The purpose of this study was to determine the clinical features and causes of small bowel intussusception in children. Methods: We retrospectively reviewed the clinical and radiologic findings of 21 children with small bowel intussusception who were admitted to Seoul National University Children’s Hospital between March 2005 and January 2010. Results: The clinical presentation of small bowel intussusception included abdominal pain or irritability (85%), vomiting (23%), fever (14%), bloody stools (14%), and abdominal masses (4%). Six patients required surgical management. Ultrasonography showed that the mean diameter of the lesions and mean thickness of the outer rims were 1.6±0.7 and 1.7±1.8 mm, respectively. Eleven lesions were located in the left abdominal or paraumbilical regions. Children who underwent surgical management were older than children with transient small bowel intussusception (mean age, 51 vs. 109 months). The mean diameter of the lesions and mean thickness of the outer rims were greater in the surgically-managed group. The location of intussusception was not significantly different between the two groups. Conclusion: Small bowel intussusception was spontaneously reduced in a large number of pediatric patients. However, sonographic demonstration of larger size, older age, and pathologic lead point warrant surgical intervention. (Korean J Pediatr Gastroenterol Nutr 2010; 13: 128∼133)

Purpose: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. Methods: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0±3.2 years. Results: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedun- culated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. Conclusion: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation. (Korean J Pediatr Gastroenterol Nutr 2010; 13: 154∼163)

Purpose: This study was performed to demonstrate the usefulness of early endoscopy for predicting the development of stricture following corrosive ingestion in children. Methods: We conducted a retrospective study on 34 children who were brought to Seoul National University Childrens Hospital and Seoul National University Bundang Hospital for corrosive ingestion from 1989 to 2007. Results: The corrosive burns were classified as grade 0 in 8 patients, grade 1 in 2, grade 2a in 7, grade 2b in 13, and grade 3 in 4. There was no significant correlation between the presence of esophageal injury and symptoms including vomiting, dysphagia, and drooling. There was a statistically significant relation between the presence of oropharyngeal injury and esophageal injury (P=0.014). There were no complications including hemorrhage and perforation related to endoscopy. Strictures of the esophagus or the stomach developed in 12 patients (36.4%). Esophageal stricture was observed in 11 patients and pyloric stenosis in 1 patient. The endoscopic grade of mucosal injury was significantly related to the frequency of development of esophageal stricture (P=0.002). Two of eleven patients with esophageal stricture responded to repeated dilation. The remaining seven patients underwent surgery. Conclusion: Early esophagogastroduodenoscopy is not only a safe and useful diagnostic tool for children with accidental caustic ingestion but also a necessity for determining the degree and the extent of caustic burns and for predicting the development of late complications. (Korean J Pediatr 2009;52:446-452)

=Abstract= Autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and primary biliary cirrhosis (PBC) are chronic autoimmune liver diseases. Overlap syndrome is defined as a condition in which the clinical, biochemical, and histological features of these autoimmune diseases are overlapped. Thus, it is difficult to appreciate overlap syndrome as an actual diagnostic entity. Only a few cases of the overlap syndrome of AIH and PSC have been reported, especially in children. Moreover, PSC is known to be the most frequent liver disorder associated with inflammatory bowel diseases such as ulcerative colitis. We report one case of AIH-PSC overlap syndrome in a child who was diagnosed as having ulcerative colitis.(Korean J Pediatr 2009;52:504-507)

Objective This study was designed to assess the usefulness of transperineal ultrasonography (US) for the determination of imperforate anus (IA) type. Materials and Methods From January 2000 to December 2004, 46 of 193 patients with an IA underwent transperineal US prior to corrective surgery. Sonographic findings were reviewed to identify the presence of internal fistulas and to determine "distal rectal pouch to perineum (P-P)" distances. IA types were determined based on the sonographic findings, and the diagnostic accuracy of transperineal US was evaluated based on surgical findings. Results Of the 46 patients, 17 patients were surgically confirmed as having a high-type IA, three patients were confirmed as having an intermediate-type IA and 26 patients were confirmed as having a low-type IA. The IA type was correctly diagnosed by the use of transperineal US in 39 of the 46 patients (85%). In 14 of the 17 patients with a high-type IA, internal fistulas were correctly identified. All cases with a P-P distance > 16 mm were high-type IAs and all cases with a P-P distance < 5 mm were low-type IAs. Conclusion Transperineal US is a good diagnostic modality for the identification of internal fistulas in cases of high-type IA and for defining the IA level.

We analyzed the CT features of 22 patients with endobronchial tuberculosis (EBTB) showing segmental collapse and/or mas-like infiltrates. The CT findings of involved bronchi were bronchial stenosis with wall thickening or peribronchial cuff of soft tissue (n = 9), bronchial obstruction with peribronchial cuff or soft tissue (n = 7), bronchial involvement with tuberculous lymphadenitis (n = 5), or intraluminal lower density polypoid mass with narrowing (n = 1). Enhancement of the peribronchial cuff following intravenous contrast medium administration was noted in four of seven patients in the bronchial obstruction group. The parenchymal lesions distal to the bronchial lesion were segmental collapse, collapse with multiple low density areas (presumed caseous pneumonia), cavities, and round low density lesion (presumed mucoid impaction distal to an endobronchial obstruction). Ill-defined small nodular densities and larger confluent densities suggesting endobronchially disseminated pulmonary tuberculosis were found in the adjacent lung in 10 patients.

In general, conventional high-Tc superconducting fault current limiters (SFCLs) are operated by cooling systems with a liquid cryogen, such as liquid nitrogen (LN2). However, in the fault mode, LN2 evaporates because of joule heating in the SFCL module, so the SFCL system experiences an enormous increase in nitrogen gas volume. In this case, the thermal stability and protection of the system become the primary concerns for the design of the SFCL cooling system. In order to enhance the thermal stability and safety of the system, an SFCL cooled by solid nitrogen (SN2) as a large heat capacitor has been proposed as an alternative. In this paper we report the quench/recovery characteristics of a YBCO-coated conductor (CC) evaluated in an SN2 cooling system for the SFCL. A feasibility study is also conducted on the reference design codes and thermal requirements for the optimal design of the SN2 cooling system. The results demonstrate that the improved thermal contact obtained between the SN2 cooling system and the SFCL module renders the proposed system a suitable cryogen for the SFCL module. Detailed experimental results for the LN2 and SN2 cooling systems are presented and discussed.

저자들은 뇌하수체저하증을 동반한 조기에 발병된 소아 비만 환자에서 비알코올성 지방간질환의 진행으로 인한 간경화를 경험하였기에 이를 보고하는 바이며, 향후 뇌하수체저하증이 동반된 비만 환자에서 비알코올성 지방간질환의 발생 및 진행에 대한 주의 깊은 관찰이 필요할 것으로 사료된다.Non-alcoholic fatty liver...

Objective To evaluate the dynamic changes of the power Doppler (PD) in acute renal vein occlusion and recanalization in a canine model. Materials and methods We performed a PD of the kidney during graded renal vein occlusion and recanalization induced by balloon inflation and deflation in nine dogs. The PD images were transferred to a personal computer, and the PD signals were quantified. Results We observed the temporal change of the PD signal during renal vein occlusion and recanalization, with a decrease in the PD signal during occlusion and an increase during recanalization. The mean PD signal decreased gradually as the renal vein was occluded, and conversely increased gradually with sequential relief of occlusion. The sequential change of the mean value of the PD signal was statistically significant. Conclusion The PD can detect a change in renal blood flow during acute renal vein occlusion and recanalization in a canine model. The PD may be used as a helpful tool for the early detection of acute renal vein thrombosis and the monitoring of renal perfusion.

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.

Crohn disease (CD) is rare, but the incidence of CD has been increasing over the past ten years. We found two cases of CD, associated with myelodysplastic syndrome (MDS), for the first time in children. In the first patient, MDS was diagnosed at three years of age and CD developed later at eight years of age. The patient presented with recurrent abdominal pain, diarrhea, bloody stools and failure to thrive. Colonoscopy revealed cobble stone like mucosa and mass like lesions with superficial ulceration and inflammatory exudates, observed from the cecum to ascending colon. Ileo-cecal biopsy samples showed ulcers with skipped areas and lymphoid infiltrations. The patient was started on treatment with mesalazine and deflazacort, and symptoms remitted. In the second patient, MDS was diagnosed at nine years of age and CD developed at 13 years of age. This patient has recurrent hematochezia, abdominal pain, vomiting and fever. Colonoscopy revealed a large, deep indurative ulceration on the cecal side of the ileo-cecal valve. Ileocecectomy was done, and histology revealed ulceration with transmural inflammation and lymphoid aggregates. Symptoms improved after ileocecectomy.

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment.