Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.
Cartilage ; Cleft Palate ; Collagen Type II ; Congenital Abnormalities ; Connective Tissue ; Dwarfism ; Hearing Loss ; Humans ; Joints ; Parturition ; Plagiocephaly ; Spine

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.
Cartilage ; Cleft Palate ; Collagen Type II ; Congenital Abnormalities ; Connective Tissue ; Dwarfism ; Hearing Loss ; Humans ; Joints ; Parturition ; Plagiocephaly ; Spine

We report a case of Lennox-Gastaut syndrome successfully treated by the removal of hippocampal gangliocytoma. A17-year-old girl was admitted due to intractable tonic seizure, generalized tonic clonic seizure, and frequent fallingdespite the administration of polypharmacotherapy. She was mentally retarded and had developmental delays. She had the first seizure at the age of 12 months and the pattern of seizures seemed to be drop attacks. Electroencephalogram (EEG) showed background slowing of about 7 Hz, multifocal spike and wave, and generalized spike and wave complex-es (1.5~3.5 Hz). Magnetic resonance image (MRI) revealed a small polycystic mass in the left parahippocampal gyrus and hippocampal atrophy. A left hippocampectomy and total resection of the tumor was performed. Histopathologically, the cysts were identical to gangliocytoma. Sixth months later, the frequency of seizures decreased to once a month No seizures have been reported since August 1998.
Atrophy ; Electroencephalography ; Female ; Ganglioneuroma* ; Humans ; Mentally Disabled Persons ; Parahippocampal Gyrus ; Seizures ; Syncope

Lung cancer metastatic to the small intestine is uncommon. Despite the widespread nature of metastases that characterize this carcinoma, symptomatic intestinal metastases are extremely rare, but have been reported as a cause of intestinal obstruction, hemorrhage, malabsorption, and perforation. We have recently encountered two cases with squamous cell lung cancer who underwent endoscopic retrograde cholangiopancreatography for obstructive jaundice. Biopsies obtained from concentric ulcerative mass in the duodenum showed metastatic squamous cell carcinoma in the lymphatics. Histologically, the pulmonary and duodenal lesions were identical and this suggests a lymphatic route of dissemination. This is the report of two cases with obstructive jaundice secondary to duodenal metastasis from primary lung cancer. Metastatic squamous cell carcinoma of the lung to the duodenum should be considered in the differential diagnosis of patients harboring such a malignancy who have obstructive jaundice.
Biopsy ; Carcinoma, Squamous Cell ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis, Differential ; Duodenum ; Hemorrhage ; Humans ; Intestinal Obstruction ; Intestine, Small ; Jaundice ; Jaundice, Obstructive* ; Lung Neoplasms* ; Lung* ; Neoplasm Metastasis* ; Ulcer

PURPOSE: To assess the validity of individual and combined prognostic effects of severe bronchopulmonary dysplasia (BPD), brain injury, retinopathy of prematurity (ROP), and parenteral nutrition associated cholestasis (PNAC). METHODS: We retrospectively analyzed the medical records of 80 extremely low birthweight (ELBW) infants admitted to the neonatal intensive care unit (NICU) of the Severance Children's Hospital, and who survived to a postmenstrual age of 36 weeks. We analyzed the relationship between 4 neonatal morbidities (severe BPD, severe brain injury, severe ROP, and severe PNAC) and poor outcome. Poor outcome indicated death after a postmenstrual age of 36 weeks or survival with neurosensory impairment (cerebral palsy, delayed development, hearing loss, or blindness) between 18 and 24 months of corrected age. RESULTS: Each neonatal morbidity correlated with poor outcome on univariate analysis. Multiple logistic regression analysis revealed that the odds ratios (OR) were 4.9 (95% confidence interval [CI], 1.0-22.6; P=0.044) for severe BPD, 13.2 (3.0-57.3; P<.001) for severe brain injury, 5.3 (1.6-18.1; P=0.007) for severe ROP, and 3.4 (0.5-22.7; P=0.215) for severe PNAC. Severe BPD, brain injury, and ROP were significantly correlated with poor outcome, but not severe PNAC. By increasing the morbidity count, the rate of poor outcome was significantly increased (OR 5.2; 95% CI, 2.2-11.9; P<.001). In infants free of the above-mentioned morbidities, the rate of poor outcome was 9%, while the corresponding rates in infants with 1, 2, and more than 3 neonatal morbidities were 46%, 69%, and 100%, respectively. CONCLUSION: In ELBW infants 3 common neonatal mornidifies, severe BPD, brain injury and ROP, strongly predicts the risk of poor outcome.
Brain Injuries ; Bronchopulmonary Dysplasia ; Cholestasis ; Diterpenes ; Hearing Loss ; Humans ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Intensive Care, Neonatal ; Logistic Models ; Medical Records ; Odds Ratio ; Paralysis ; Parenteral Nutrition ; Retinopathy of Prematurity ; Retrospective Studies

PURPOSE: The major goal of the therapy in the soft tissue sarcoma is to control both local and distant tumor. However, the technique of obtaining local control has changed significantly over the past few decades from more aggressive surgery to combined therapy including conservative surgery and radiation and/or chemotherapy. We retrospectively analyzed the treatment results of the postoperative radiation therapy of soft tissue sarcoma and its prognostic factor. MATERIAL AND METHODS: Between March 1983 and June 1994, 60 patients with soft tissue sarcoma were treated with surgery and postoperative radiation therapy at Kang-Nam St. Mary's hospital. Complete follow up was possible for all patints with median follow up duration 50 months (range 6- 162 months). There were 28 male and 32 female patients. Their age ranged from 6 to 83 with a median of 44 years. Extremity (58%) was the most frequent site of occurrence followed by trunk (20%) and head and neck (12 %). Histologically malignant fibrous histiocytoma (23%), liposarcoma (17%), malignant schwannoma (12%) constitute 52% of the patients. Daily radiation therapy designed to treat all areas at a risk for tumor spread upto dose of 4500-5000 cGy. A shrinking field technique was then used and total 55-65 Gy was delivered to tumor bed. Twenty-five patients (42%) received chemotherapy with various regimen in the postoperative period. RESULTS: Total 41 patients failed either with local recurrence or with distant metastasis. There were 29 patients (48%) of local recurrence. Four patients (7%) developed simultaneous local recurrence and distant metastasis and 8 patients (13%) developed only distant metastasis. Local recurrence rate was rather higher than of other reported series. This study included patients of gross residual, recurrent cases after previous operation, trunk and head andneck primary. This feature is likely explanation for the decreased local control rate. Five of 29 patients who failed only locally were salvaged by re-excision and/or re-irradiation and remained free of disease. Factors affecting local control include histologic type, grade, stage, extent of operation and surgical margin involvement, lymph node metastasis (p<0.05). All 21 patients who failed distantly are dead with progressive disease at the time of this report. Our overall survival results are similar to those of larger series. Actuarial 5 year overall survival and disease free survival were 60.4 %, 36.6% respectively. Grade, stage (being close association with grade), residual disease (negative margin, microscopic, gross) were significant as a predictor of survival in our series (p<0.05). CONCLUSION: Combined surgery and postoperative radiation therapy obtained 5 year survival rate comparable to that of radical surgery.
Disease-Free Survival ; Drug Therapy ; Extremities ; Female ; Follow-Up Studies ; Head ; Histiocytoma, Malignant Fibrous ; Humans ; Liposarcoma ; Lymph Nodes ; Male ; Neck ; Neoplasm Metastasis ; Neurilemmoma ; Postoperative Period ; Recurrence ; Retrospective Studies ; Sarcoma* ; Survival Rate

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.
Amyloidosis/*diagnosis ; Child ; Familial Mediterranean Fever/*diagnosis ; Humans ; Kidney Diseases/*diagnosis ; Korea ; Male

Lymphangioma is a rare benign congenital tumor of the lymphatic system, which is commonly diagnosed before 2 years of age. In the natronal report, cystic lymphangioma was usually reported as a huge translucent mass located in the head and neck area. It's occurrence in retropharyngeal space with respiratory obstruction and swallowing difficulty in neonate is extremely rare and postoperative nasopharyngeal reflux has rarely been reported. Complete resection is the standard therapy. However, involvement of the upper airway may be determining prognosis in the extensive lymphangiomas because of the difficulty of complete excision. We present a case of cystic lymphangioma in neonate which was initially asymptomatic but gradually progressed to cause respiratory obstruction due to enlargement. After resection, nasopharyngeal reflux developed with dysfunction of the soft palate and gradually improved with conservative care over 5 months.
Deglutition ; Head ; Humans ; Infant, Newborn ; Lymphangioma ; Lymphangioma, Cystic ; Lymphatic System ; Neck ; Palate, Soft ; Pharyngeal Diseases ; Prognosis

PURPOSE: To analyze and compare various cases in which peritoneal drainage was used as the primary treatment method in preterm infants with intestinal perforation. METHODS: Among the preterm infants of less than 28 weeks of gestation who were admitted to the neonatal intensive care unit (NICU) at the Gangnam Severance Hospital from April 2006 to April 2009, 7 who had developed intestinal perforation were studied retrospectively. We investigated the clinical characteristics, secondary operation performances, morbidities, complications, and mortalities. RESULTS: Among the 7 infants, 5 survived. Of the 5 cases, 3 received laparotomy, of which 2 were confirmed as having necrotizing enterocolitis. Of the 2 infants who died, 1 had received laparotomy before 48 h of peritoneal drainage, while the other had not received any subsequent treatment. Of the 7 children, 4 had patent ductus arteriosus (PDA), of which 3 had received indomethacin injection. Five infants had begun enteral feeding before they developed intestinal perforation. Of the 5 infants who survived, 4 were diagnosed with cholestasis. Of the 7 infants, 4 developed periventricular leukomalacia (PVL) and 3 developed rickets. CONCLUSION: Although the use of peritoneal drainage as the primary management of intestinal perforation in preterm infants is controversial, we suggest that it can be used for treating extreme premature neonates. Further randomized controlled study will be required to determine the feasibility of using this method.
Child ; Cholestasis ; Drainage ; Ductus Arteriosus, Patent ; Enteral Nutrition ; Enterocolitis, Necrotizing ; Humans ; Indomethacin ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Intestinal Perforation ; Laparotomy ; Leukomalacia, Periventricular ; Pregnancy ; Retrospective Studies ; Rickets

PURPOSE: To analyze and compare various cases in which peritoneal drainage was used as the primary treatment method in preterm infants with intestinal perforation. METHODS: Among the preterm infants of less than 28 weeks of gestation who were admitted to the neonatal intensive care unit (NICU) at the Gangnam Severance Hospital from April 2006 to April 2009, 7 who had developed intestinal perforation were studied retrospectively. We investigated the clinical characteristics, secondary operation performances, morbidities, complications, and mortalities. RESULTS: Among the 7 infants, 5 survived. Of the 5 cases, 3 received laparotomy, of which 2 were confirmed as having necrotizing enterocolitis. Of the 2 infants who died, 1 had received laparotomy before 48 h of peritoneal drainage, while the other had not received any subsequent treatment. Of the 7 children, 4 had patent ductus arteriosus (PDA), of which 3 had received indomethacin injection. Five infants had begun enteral feeding before they developed intestinal perforation. Of the 5 infants who survived, 4 were diagnosed with cholestasis. Of the 7 infants, 4 developed periventricular leukomalacia (PVL) and 3 developed rickets. CONCLUSION: Although the use of peritoneal drainage as the primary management of intestinal perforation in preterm infants is controversial, we suggest that it can be used for treating extreme premature neonates. Further randomized controlled study will be required to determine the feasibility of using this method.
Child ; Cholestasis ; Drainage ; Ductus Arteriosus, Patent ; Enteral Nutrition ; Enterocolitis, Necrotizing ; Humans ; Indomethacin ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Intestinal Perforation ; Laparotomy ; Leukomalacia, Periventricular ; Pregnancy ; Retrospective Studies ; Rickets