Antiepileptic drug hypersensitivity syndrome (AHS), a delayed immunological reaction, is a relatively rare side effect of antiepileptic drugs and is usually overlooked. An array of symptoms can occur one to eight weeks after treatment with an antiepileptic drug. Symptoms may be as simple as a fever, skin rash, or lymphadenopathy, but may eventually involve internal organs and cause fatal outcomes. Additionally, because the symptoms resemble the features of various arrays of diseases and the reported mortality rate is approximately 10%, the importance of early diagnosis and ability to differentiate AHS from other diseases cannot be overemphasized. We report a case of a 14-year-old girl with AHS caused by lamotrigine, which mimicked atypical Kawasaki disease and infectious mononucleosis.
Adolescent ; Anticonvulsants ; Drug Hypersensitivity ; Early Diagnosis ; Exanthema ; Fatal Outcome ; Fever ; Humans ; Infectious Mononucleosis ; Lymphatic Diseases ; Mucocutaneous Lymph Node Syndrome ; Triazines

Miller-Dieker Syndrome consists of severe type I lissencephaly and a characteristic abnormal facial appearance at birth and may progress to severe neurologic defects such as intractable seizure and growth failure. This syndrome is associated with microdeletion of p13.3 in the distal portion of chromosome 17. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. We diagnosed Miller-Dieker syndrome in a case in which there are charcteristic craniofacial appearance and neurologic symptoms and type I lissencephaly on the MRI. : We confirmed this syndrome with the a microdeletion of p13.3 portion in the short arm of chromosome 17 by the FISH method. We have experienced a baby with this syndrome, who showed characterisic craniofacial abnormalities and a microdeletion of p13.3 portion in the short arm of chromosome 17. Then we report this rare case with brief review of literature.
Arm ; Brain ; Chromosomes, Human, Pair 17 ; Classical Lissencephalies and Subcortical Band Heterotopias* ; Craniofacial Abnormalities ; Lissencephaly ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Neurons ; Parturition ; Seizures

OBJECTIVE: To promote awareness and efforts by in-hospital child abuse center to identity and prevent child abuse by investigation of victim and types of injury caused by child abuse. METHODS: A retrospective study was performed with 51 patients who had been diagnosed or suspected as child abuse at Shiny kid child abuse center in Soonchunhyang Gumi Hospital from January 2008 to December 2011. The medical records, radiologic documents, and social worker's notes were reviewed to investigate age, sex, type of abuse, perpetrator, type of injury, final diagnosis, and follow-up success rate. RESULTS: The mean age of the subjects was 7 years old. Twenty-one patients were between 1 and 6 years old, 14 patients between 7 and 12 years old, 12 patients over 13 years old, and 4 cases less than 1 year old. The sex distribution was 47% (n=24) of male and 53% (n=27) of female. Thirty-five percentage of these patients reported with mixed abuse, 40% neglect, 29% physical abuse, 18% emotional abuse, 10.3% abandonment, and 2.5% sexual abuse, respectively. Twelve cases (23.5%) of them were found out the Routine health checkup. Bleeding and bruising (17.6%) were the second. Contusion and laceration were diagnosed in 9 cases, failure to thrive in 8 cases, tension headache in 5 cases, irritable bowel syndrome in 4 cases, sepsis of newborn in 4 cases, nephrotic syndrome in 3 cases, chronic otitis externa and media in 3 cases, mental retardation in 2 cases, congenital brain anomaly in 2 cases, major depression in 2 cases, pulmonary tuberculosis in 2 cases, diabetes mellitus in 1 case, and others in 6 cases, respectively. CONCLUSION: In-hospital child care team may experience the different proportion of abuse types and patterns by conducting a nation-wide survey of child abuse cases.
Brain ; Child ; Child Abuse ; Child Care ; Contusions ; Depression ; Diabetes Mellitus ; Failure to Thrive ; Female ; Follow-Up Studies ; Hemorrhage ; Humans ; Infant, Newborn ; Intellectual Disability ; Irritable Bowel Syndrome ; Lacerations ; Male ; Medical Records ; Nephrotic Syndrome ; Otitis Externa ; Retrospective Studies ; Sepsis ; Sex Distribution ; Sex Offenses ; Tension-Type Headache ; Tuberculosis, Pulmonary

Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Craniosynostoses ; Hammer Toe Syndrome ; Humans ; Infant ; Infant, Newborn ; Jacobsen Distal 11q Deletion Syndrome* ; Male ; Retrognathia ; Tetralogy of Fallot ; Thrombocytopenia

Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Craniosynostoses ; Hammer Toe Syndrome ; Humans ; Infant ; Infant, Newborn ; Jacobsen Distal 11q Deletion Syndrome* ; Male ; Retrognathia ; Tetralogy of Fallot ; Thrombocytopenia

No abstract available.
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OBJECTIVE: Necrotizing pneumonia (NP) is a severe complication of lobar pneumonia caused by various pathogens. The immunopathogenesis and clinical characteristics of NP in children are not clearly understood. We wanted to evaluate the clinical characteristics and suggest in part the immunopathogenesis of NP. METHODS: We reviewed retrospectively the medical charts and radiographic materials of eight patients with NP, who were diagnosed by chest radiography and chest computed tomography at the Department of Pediatrics, Soonchunhyang University Hospitals at Cheonan and Bucheon from January 2002 to December 2011. RESULTS: They were previously healthy, 2.1 to 4.6 years of ages (mean, 2.8+/-1.0 years) and three boys and five girls. All of them had pleural effusion. Five patients had pneumonic consolidations in right upper lung field. Three patients had pneumatocele. They developed leukocytosis (mean, 19,400+/-6,400/mm3), higher C-reactive protein level (mean, 25.1+/-8.0 mg/dL). The etiologic agents were revealed in two patients; Streptococcus pneumonia (S. pneumonia) was revealed in one patient and S. pneumonia and Mycoplasma pneumonia in the other patient. Three patients were treated with additional intravenous immunoglobulin. Clinical improvement was prolonged: fever lasted 10 to 23 days, and length of hospitalization was 15 to 36 days. NP or pneumatocele were completely resolved on the follow-up radiographic studies in all of the patients. CONCLUSION: Although the previously healthy young children with NP had protracted clinical course, they recovered without any problematic sequelae. Our results suggest that the immunopathogenesis of NP in children may be associated with the exaggerated immune reaction of the host to insults from initial bacterial infections, rather than the pathogen-induced cytopathies.
Bacterial Infections ; C-Reactive Protein ; Child* ; Chungcheongnam-do ; Female ; Fever ; Follow-Up Studies ; Gyeonggi-do ; Hospitalization ; Hospitals, University ; Humans ; Immunoglobulins ; Leukocytosis ; Lung ; Pediatrics ; Pleural Effusion ; Pneumonia* ; Pneumonia, Mycoplasma ; Radiography ; Retrospective Studies ; Streptococcus ; Thorax

BACKGROUND: The myelodysplastic syndromes (MDS) can be categorized as a group of clonal hematopoietic disorders characterized by ineffective hematopoiesis and peripheral cytopenias. Although the natural history of MDS varies, traditional treatments are not curative and allogeneic marrow transplantation offers potentially curative treatment for MDS. METHODS: In our center, 10 patients underwent allogeneic bone marrow transplantation (BMT) between December 1989 and May 1997. The minimum follow-up of 3 months was possible in 10 patients, for whom treatment-related complications and clinical outcomes were assessed. RESULTS: The median age of the 10 patients was 33 (range 20~40) years. The median time from diagnosis to BMT was 34 (3~116) months. By morphology, 5 patients had advanced MDS (i.e., RAEB, RAEB-t, CMML) and 5 patients had less advanced MDS (RA). By Bournemouth score, 8 patients had a score 2~3 and two patients had a score 4. By IPSS, 5 patients were in intermediate-1 group, 3 patients in intermediate-2 group and 2 patients in high risk group. Patients were prepared for transplant with either a total body irradiation (TBI)+cyclophosphamide (n=7), busulfan+TBI (n=2) and busulfan+cyclophophamide (n=1). All patients received CsA+short course MTX for GVHD prophylaxis. Successful engraftment was confirmed in all patients. The overall incidence of acute GVHD was noted in 70% (7/10 patients) and grade IV acute GVHD developed in 2 patients (20%). Five patients were evaluable for the development of chronic GVHD and 2 patients (40%) developed limited chronic GVHD. The duration of median follow-up was 8.1 months. At present five patients are alive and disease-free 3 to 21 months (median survival duration : 8.2 months) post-transplantation resulting in a 2-year disease-free survival of 44%. 2-year disease free survival was 63% in less advanced MDS and 25% in advanced MDS. CONCLUSION: Allogeneic BMT should be considered when any clinical evidence of disease progression to a more advanced stage becomes apparent. International prognostic scoring system (IPSS) and Bournemouth score can also be used to gauge timing for BMT. For patients were in intermediate-1 or intermediate-2 group by IPSS, BMT can be justified if the patient is young and has an HLA matched sibling donor.
Anemia, Refractory, with Excess of Blasts ; Bone Marrow Transplantation* ; Bone Marrow* ; Diagnosis ; Disease Progression ; Disease-Free Survival ; Follow-Up Studies ; Hematopoiesis ; Humans ; Incidence ; Myelodysplastic Syndromes* ; Natural History ; Siblings ; Tissue Donors ; Whole-Body Irradiation