The First Report on Clinical Manifestation of Cryopyrin-Associated Periodic Syndrome in Korean Children

PURPOSE: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. METHODS: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. RESULTS: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). CONCLUSIONS: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.

Korean Clinical Practice Guidelines: Otitis Media in Children

Acute otitis media (AOM) and otitis media with effusion (OME) are common infections in children, and their diagnosis and treatment have significant impacts on the health of children and the costs of providing national medical care. In 2009, the Korean Otologic Society organized a committee composed of experts in the field of otolaryngology, pediatrics, and family medicine to develop Korean clinical practice guidelines (CPG) for otitis media in children with the goal of meeting regional medical and social needs in Korea. For this purpose, the committee adapted existing guidelines. A comprehensive literature review was carried out primarily from 2004 to 2009 using medical search engines including data from Korea. A draft was written after a national questionnaire survey and several public audits, and it was editorially supervised by senior advisors before publication of the final report. These evidence-based guidelines for the management of otitis media in children provide recommendations to primary practitioners for the diagnosis and treatment of children younger than 15 yr old with uncomplicated AOM and OME. The guidelines include recommendations regarding diagnosis, treatment options, prevention and parent education, medical records, referral, and complementary/alternative medicine for treating pediatric otitis media.

A Case of Severe Hemolytic Disease of the Newborn Due to Anti-Di(a) Antibody / 대한진단검사의학회지

Here we report a severe case of hemolytic anemia of the newborn with kernicterus caused by anti-Di(a) antibody. A full term male infant was transferred due to hyperbilirubinemia on the third day of life. Despite single phototherapy, the baby's total bilirubin had elevated to 30.1 mg/dL. After exchange transfusion, total bilirubin decreased to 11.45 mg/dL. The direct antiglobulin test on the infant's red cells was positive. The maternal and infant's sera showed a negative reaction in routine antibody detection tests, but were positive in Di(a) panel cells. The frequency of the Di(a) antigen among the Korean population is estimated to be 6.4-14.5%. Anti-Di(a) antibody could cause a hemolytic reaction against transfusion or hemolytic disease of the newborn. We suggest the need for reagent red blood cell panels to include Di(a) antigen positive cells in antibody identification test for Korean.

A Case of Nutcracker Esophagus Combined with Hypertensive Lower Esophageal Sphincter

Nutcracker esophagus and hypertensive lower esophageal sphincter (LES) are primary esophageal motility disorders. Nutcracker esophagus have demonstrated distal esophageal contraction amplitude that exceeds the normal range (>160mmHg), without association abnormalities of the esophageal contraction wave, or lower esophageal sphinter relaxation. The criteria for diagnosing hypertensive LES take the mean LES pressure >45mmHg, LES relaxation >75% and normal peristalsis, which is a poorly characterized motility disorder associated with chest pain and dysphagia. We experienced a case of nutcracker esophagus combined with hypertensive LES in a 3-year- old girl who presented with projectile vomiting immediately after eating solid foods. After she had taken barium esophagography and esophageal endoscopy, we suspected she had esophageal motor disorder. Esophageal manometric findings show abnormal high pressure of LES (mean LES pressure, 52.9 mmHg), abnormal high amplitude of lower esophagus more than 320 mmHg, normal esophageal perisaltic movement and normal LES relaxation. After pneumatic dilatation, now she can eat semisolid foods. This case may be the first case of nutcracker esophagus combined with hypertemsive LES in children.

A Case of Ischemic Colitis in Childhood

Ischemic colitis is a common gastrointestinal disease not in childhood but in sixties decade. It's developed due to ischemic injury of colon and classified to transient reversible form, chronic form and acute fulminant form. Uniquely Authors had experienced a case of ischemic colitis diagnosed as barium enema in childhood. This patient was brought to our hospital due to abdominal pain, abdominal distension and bloody diarrhea. He was received barium enema study which showed stricture of splenic flexure of descending colon. He had severe clinical course of ischemic colitis, resulting in sepsis and acute renal failure. He was recovered from previous symptom after hemodialysis, antibiotic medication and supportive care. We saw recovery of stricture of splenic flexure by barium enema study.