Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.

The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea

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.

A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

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.

A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

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.

Genetic and Epileptic Features in Rett Syndrome

PURPOSE: Rett syndrome is a severe neurodevelopmental disorder in females. Most have mutations in the methyl-CpG-binding protein 2 (MECP2) gene (80-90%). Epilepsy is a significant commonly accompanied feature in Rett syndrome. Our study was aimed at comprehensive analysis of genetic and clinical features in Rett syndrome patients, especially in regards to epileptic features. MATERIALS AND METHODS: We retrospectively reviewed 20 patients who were diagnosed with MECP2 mutations at Severance Children's Hospital between January 1995 and July 2010. All patients met clinical criteria for Rett syndrome. Evaluations included clinical features, epilepsy classification, electroencephalography analysis, and treatment of seizures. RESULTS: Ages ranged from 3.6 to 14.3 years (7.7+/-2.6). Fourteen different types of MECP2 mutations were found, including a novel in-frame mutation (1153-1188 del36). Fourteen of these patients (70.0%) had epilepsy, and the average age of seizure onset was 3.0+/-1.8 years. Epilepsy was diverse, including partial seizure in four patients (28.5%), secondarily generalized seizure in six (42.8%), generalized tonic seizure in two (14.3%), Lennox-Gastaut syndrome in one (7.1%), and myoclonic status in non-progressive encephalopathy in one (7.1%). Motor functions were delayed so that only 10 patients (50.0%) were able to walk independently: five (35.8%) in the epilepsy group and five (83.3%) in the non-epilepsy group. Average developmental scale was 33.5+/-32.8 in the epilepsy group and 44.4+/-21.2 in the non-epilepsy group. A clear genotype-phenotype correlation was not found. CONCLUSION: There is a tendency for more serious motor impairment and cognitive deterioration in Rett syndrome patients with epilepsy.

Effect of severe neonatal morbidities on long term outcome in extremely low birthweight infants / 소아과

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.

A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant / 소아과

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.

Clinical experience of therapeutic effect of peritoneal drainage on intestinal perforation in preterm infants / 소아과

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.

Clinical experience of therapeutic effect of peritoneal drainage on intestinal perforation in preterm infants / 소아과

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.