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.
Anti-Bacterial Agents ; Child ; Esophageal Stenosis ; Esophagus ; Granuloma ; Granulomatous Disease, Chronic* ; Humans ; Recurrence ; Steroids

PURPOSE: We report a case of optic disc hemorrhage associated with buried optic nerve head drusen in a pediatric patient. CASE SUMMARY: A 10-year-old female visited our clinic with a floating sensation in her left eye, 2 days in duration. Best corrected visual acuity was 1.0 in both eyes. Intraocular pressure, light reflex, relative afferent pupillary defect and color vision were normal. The patient showed a small optic disc with blurred, irregular margins in both eyes, and optic disc hemorrhage in the left eye on fundus examination. Visual field examination revealed an enlarged blind spot in the left eye. To achieve correct diagnosis, brain MRI was performed and revealed normal findings. On spectral-domain optical coherence tomography (OCT), hyper-reflective and heterogeneous mass like lesions were found with buried optic nerve head drusen. CONCLUSIONS: In general, optic nerve head drusen, has a good prognosis; however, visual field defects or hemorrhagic complications can occur, therefore, correct diagnosis and regular follow-up are necessary.
Brain ; Child ; Color Vision ; Diagnosis ; Female ; Follow-Up Studies ; Hemorrhage* ; Humans ; Intraocular Pressure ; Magnetic Resonance Imaging ; Optic Disk* ; Pediatrics ; Prognosis ; Pupil Disorders ; Reflex ; Sensation ; Tomography, Optical Coherence ; Visual Acuity ; Visual Fields

To differentiate the postoperative changes from the recurrence of tumor and to evaluate MR imaging of early postoperative leptomeningeal seeding in medulloblastoma, We have retrospectively analysed 34 cases of MR images of 17 patients who were confirmed as medulloblastoma by histopathology. Noncontrast and postcontrast T1 weighted MR images were obtained in all patients. In 11 patients follow-up MR was done more than once (average:1.5 times) and average interval of MR imaging was 6 months. The timing of 34 MR images was as follow: 6 case within 2 months, 9 cases between 2 months and 1 year, 19 cases more than 1 year after surgery respectively. MR images within 2 month after surgery revealed contrast enhancement at operation site and adjacent meninges, hemorrhage, residual tumor. In patients who had no evidence of tumor recurrence, these early postoperative changes were markedly decreased within 6 month after sugery. MR images obtained more than 1 year after sugery showed no abnormal contrast enhancement or mild focal dural enhancement at operation site. Diffuse moderate dural enhancement was noted in one patient who had the history of post-surgical subdural hemorrhage. In six patients with tumor recurrences which were detected from as early as 9months to 6 years after surgery, the findings of recurrence included leptomeningeal enhancement of brain stem and cerebellar surface at early stage, variable sized enhancing leptomeningeal nodules, linear or irregular sulcus obliterating enhancing lesions, enhancing mass at primary or metastatic site. We have concluded that leptomeningeal enhancement detected after 6 months of surgery is an important MR finding suggesting the possibility of tumor recurrence. Small nodular and linear enhancement of leptomeninges at brainstem or cerebellar surface is considered as the early manifestation of intracranial tumor seeding.
Brain Stem ; Follow-Up Studies ; Hematoma, Subdural ; Hemorrhage ; Humans ; Magnetic Resonance Imaging* ; Medulloblastoma* ; Meninges ; Neoplasm, Residual ; Recurrence ; Retrospective Studies

PURPOSE: The Purposes of this article are to illustrate the typical imaging features of eight patients with this syndrome and to discuss the advantage of each imaging modality with a concise review of literatures. MATERIALS AND METHODS: We retrospectively reviewed plain skull radiographs (6), computd tomographic(CT) scans(8), magnetic resonnance(MR) images(4) and cerebral angiograms(3) of eight patients with Sturge-Weber syndrome. We analyzed the radiographic findings of Stu rge-Weber syndrome and compared the findings of CT, MR and angiography. RESULTS: Plain radiographs showed characteristic gyriform calcifications(3) after 2 years of age. CT scans excellently demonstrated cortical calcifications(5), prominently enhancing choroid plexi(5) and dilated periventricular veins(2). MR revealed dilated deep cerebral veins as tubular or spot-like signal void structures at periventricular areas(3) and showed stripes of cortical enhancement after gadolinium infection(2). Angiograph showed dilated tortuous medullary and deep cerebral veins(3) as the collateral pathways of blood shunting. MR was superior to CT in the detection of parenchymal atrophy, venous abnormalities and the extent of angiomatous involvement. Angiography showed enlarged deep cerebral or medullary veins better than MR imaging. CONCLUSION: We think that each imaging modalit including CT, MR or angiography has unique advantages in the diagnosis of this syndrome but MR will be used frequently because of its superior ability for the detection of atrophy, vascular abnormalities and direct visualization of leptomeningeal angiomatosis with contrast enhancement.
Angiography ; Angiomatosis ; Atrophy ; Cerebral Veins ; Choroid ; Diagnosis ; Gadolinium ; Humans ; Magnetic Resonance Imaging ; Retrospective Studies ; Skull ; Sturge-Weber Syndrome* ; Tomography, X-Ray Computed ; Veins

Adenocarcinoma of the urinary bladder, including urachal carcinoma, is a rare tumor with incidence in the range between 0.5% and 2.2% of all epithelial bladder neoplasms. Ten cases of adenocarcinoma of the urinary bladder(eight cases of primary adenocarcinoma and two cases of urachal carcinoma)are presented. We described the computed tomography(CT)appearances of adenocarcinoma of the urinary bladder and tried to find out the characteristic CT findings of urachal carcinoma. CT scan were evaluated for the location of the tumors, presence of calcification in the tumor, and the tumor extension. Seven tumors were located at the dome of the bladder(70%0, two were at lateral walls, and one was at anterior wall. Seven were single mass and three were multicentric masses in the bladder. Fine punctate calcifications scattered within the tumors were detected in four cases(40%); three of the eight, primary adenocarcinoma, and one of the two, urachal carcinoma. Two urachal carcinomas were characterized by midline position and predominantly extravesical growth along the urachus. Gross extravesical extension with distant metastasis were presented in seven cases(70%) at the time of initial diagnosis. CT may be useful in evaluating the adenocarcinoma of the urinary bladder and differentiating urachal carcinoma from bladder cancer.
Adenocarcinoma* ; Diagnosis ; Incidence ; Neoplasm Metastasis ; Tomography, X-Ray Computed ; Urachus ; Urinary Bladder Neoplasms ; Urinary Bladder*

Congenital leukemia is a rare disease developing within the first 4 to 6 weeks of life, whose natural history is quite different from that of childhood and adult leukemia. Leukemia cutis occurs in 25% to 30% of infants with congenital leukemia and is more frequently associated with acute myeloid leukemia than acute lymphocytic leukemia. We report a case of congenital leukemia cutis in which a walnut-sized, slightly erythematous, dome-shaped tumor that had developed at left frontal area since birth was confirmed by skin biopsy. A review and analysis of Korean literature pertaining specially to leukemia cutis in congenital leukemia is presented along with the report of an additional case.
Adult ; Biopsy ; Humans ; Infant ; Leukemia* ; Leukemia, Myeloid, Acute ; Natural History ; Parturition ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Rare Diseases ; Skin

Radiologic findings of hemangioendothelioma of the liver were retrospectively analyzed in twelve infants. The radiological examinations included were sonography in 12 patients, computed tomograpy (CT) in six, magnetic resonance (MR) imaging in five, and angiography in two. Four patients were diagnosed pathologically, two by angiography, five by follow-up sonography, and one by clinical presentation with sonography. The common radiologic findings of the hemangioendothelioma were well circumscribed heterogeneous echogenic mass (75%) on sonography, peripheral massive enhancement (67%) on CT, bright high signal intensity on T2-weighted MR image (100%), and homogenous or peripheral enhancement (75%) on Gd-DTPA enhanced T1-weighted MR image. Dilated proximal aorta and enlarged draining hepatic veins on angiography an d other studies were also important findgdings. The follow-up sonography demonstrated the involution of lesions with some calcification in four patients and complete resolution in one. The authors believe that these findings in an under the age of 6 months strongly suggest the diagnosis of hemangioendothelioma of the liver, and follow-up sonography should be done.
Angiography ; Aorta ; Diagnosis ; Follow-Up Studies ; Gadolinium DTPA ; Hemangioendothelioma* ; Hepatic Veins ; Humans ; Infant ; Liver* ; Retrospective Studies

PURPOSE: To evaluate the clinical features and risk factors of hemorrhagic complications in polypoidal choroidal vasculopathy (PCV) using spectral domain-optical coherence tomography (SD-OCT) and indocyanine green angiography (ICGA). METHODS: We respectively reviewed the data from 43 patients (45 eyes) diagnosed with PCV who received ICGA between January 2010 and October 2013. The patients were divided into 2 groups: 16 patients (17 eyes) with subretinal hemorrhage (subretinal hemorrhagic PCV group) and 27 patients (28 eyes) without subretinal hemorrhage (control group). Based on the ICGA and SD-OCT findings, the number, morphology, location, size of polyps, pigment epithelial detachment (PED), and serous retinal detachment (SRD) were measured and compared between the 2 groups. We also analyzed systemic diseases and history of antithrombotic agents associated with subretinal hemorrhage in PCV. RESULTS: The size of polyps measured by ICGA was significantly different between the 2 groups (p = 0.006). As the size of polyps increased, the size of subretinal hemorrhage, height of PED, base diameter and height of SRD increased (p < 0.05). No statistical correlation with systemic diseases and antithrombotic agents was observed (p > 0.05). CONCLUSIONS: The patients in the subretinal hemorrhagic PCV group had larger-sized polyps than the patients in the control group. This result suggests that eyes with larger-sized polyps are at risk for hemorrhagic complications and require more careful follow-up and observation in PCV treatment-naive patients.
Angiography ; Choroid* ; Fibrinolytic Agents ; Hemorrhage* ; Humans ; Indocyanine Green ; Polyps ; Retinal Detachment ; Risk Factors

PURPOSE: To evaluate the clinical features and risk factors of hemorrhagic complications in polypoidal choroidal vasculopathy (PCV) using spectral domain-optical coherence tomography (SD-OCT) and indocyanine green angiography (ICGA). METHODS: We respectively reviewed the data from 43 patients (45 eyes) diagnosed with PCV who received ICGA between January 2010 and October 2013. The patients were divided into 2 groups: 16 patients (17 eyes) with subretinal hemorrhage (subretinal hemorrhagic PCV group) and 27 patients (28 eyes) without subretinal hemorrhage (control group). Based on the ICGA and SD-OCT findings, the number, morphology, location, size of polyps, pigment epithelial detachment (PED), and serous retinal detachment (SRD) were measured and compared between the 2 groups. We also analyzed systemic diseases and history of antithrombotic agents associated with subretinal hemorrhage in PCV. RESULTS: The size of polyps measured by ICGA was significantly different between the 2 groups (p = 0.006). As the size of polyps increased, the size of subretinal hemorrhage, height of PED, base diameter and height of SRD increased (p < 0.05). No statistical correlation with systemic diseases and antithrombotic agents was observed (p > 0.05). CONCLUSIONS: The patients in the subretinal hemorrhagic PCV group had larger-sized polyps than the patients in the control group. This result suggests that eyes with larger-sized polyps are at risk for hemorrhagic complications and require more careful follow-up and observation in PCV treatment-naive patients.
Angiography ; Choroid* ; Fibrinolytic Agents ; Hemorrhage* ; Humans ; Indocyanine Green ; Polyps ; Retinal Detachment ; Risk Factors

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.