A Case of Goltz Syndrome

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.

Comparative Analysis of the Usefulness of Magnetic Resonance Imaging according to the Classification of Pediatric Seizure / 대한소아신경학회지

PURPOSE: The correct classification of seizure is necessary for appropriate evaluation and treatment. Recent development in Magnetic Resonance Imaging(MRI) can provide critical data for classifying epilepsy. But there is limited information about its diagnostic efficacy and current use in the initial evaluation of pediatric epilepsy. So we studied the diagnostic efficacy of MRI in pediatric seizure and analyzed whether MRI could be an appropriate screening procedure. METHODS: EEG and MRI of 236 children with seizure admitted at Keimyung University Hospital from January 1997 to June 2002 were reviewed retrospectively. Patients were classified by clinical information:neonatal, generalized and partial seizure groups. We comparatively analyzed EEG findings and MRI findings in each group. RESULTS: According to the MRI findings, the rate of abnormalities of the neonatal seizure group was 50%, 31% in the generalized seizure group and 41% in the partial seizure group. Correlation between the abnormalities of EEG and MRI findings was identified in partial the seizure group(P<0.05). CONCLUSION: We concluded that MRI is an essential diagnostic tool when a neonatal or partial seizure is investigated. And it will be also useful for some patients with generalized seizure who are suspected of partial seizure.

Clinical Features of Arachnoid Cyst in Childhood / 대한소아신경학회지

PURPOSE: Intracranial arachnoid cysts are benign neurodevelopmental anomalies that are often diagnosed in childhood incidently. They are clinically asymptomatic or could be related to headache, seizure, devlopmental delay, hydrocephalus and sometimes to attention deficient hyperactivity disorder. This study was undertaken to review the clinical, radiologic findings and to discuss therapeutic strategy for arachnoid cyst in the childhood. METHODS: From August 1996 through July 2002, 26 cases of pediatric patients hospitalized in Keimyung university, Dongsan medical center with intracranial arachnoid cyst were analyzed for age, symptoms of onset, location of cyst and therapeutic detalis. Diagnosis was ratified by using of brain CT or MRI. RESULTS: Twenty-six cases were studied. The mean age at the time of diagnosis was 5.2 years and 31% of them were less than 2 years old. The majority of cyst were located in supratentorial(88%) and 16 cases(61%) of them were on middle cranial fossa/ sylvian fissure. The symptoms of onset were headache in 11 cases(42%), convulsions on 6 cases(23%), trauma and others. Among these 26 children, 18 children treated by surgery, in which 10 cases had cysto-peritoneal shunt and the rest had marsupialization and excision of cyst. CONCLUSION: Arachnoid cyst represented variable symptoms in the childhood and incidence rate seems to be higher, especially in infant. Thus we should provide them appropriate strategy of therapy.

Viability and Colony Forming Capacity of Hematopoietic Stem Cells after Cryopreservation / 대한소아혈액종양학회지

PURPOSE: Cryopreservation of hematopoietic stem cells is one of the essential components in autologous and peripheral blood stem cell transplantation. Cryopreservation of hematopoietic stem cell, the conventional method involves controlled-rate freezing by a programmed freezer in medium that contains 10% dimethyl sulfoxide (DMSO) as cryoprotectant, followed by storage in liquid nitrogen freezer. We compared the differences between different methods of cryopreservation and cryoprotectants on viability and colony forming capacity of hematopoietic stem cells. METHODS: Mononuclear cells separated using Ficoll-Hypaque from cord blood, peripheral blood and bone marrow were frozen with programmed freezer at 196degrees C or placed in a 70degrees C freezer without programmed freezer in both 10% and 20% DMSO. We measured cell viability using trypan blue dye exclusion method and colony forming capacity with methyl cellulose media at 7, 30 and 90 days after thawing. RESULTS: Cell viability of cord blood, peripheral blood and bone marrow was higher in the groups with programmed freezer compared with rapid freezing and storing in a 70degrees C freezer. Also as the storage time passed, the decrease in viability of hematopoietic cells was much less in the groups of controlled-rate freezing by a programmed freezer. The number of colony in cord blood and bone marrow was higher with programmed freezer and that of peripheral blood was higher with rapid freezing and storage in a 70degrees C freezer. Comparing the differences between different concentraions of DMSO, cell viability was similar or slightly higher in 20% DMSO groups than 10% DMSO groups, but the number of colony was higher in 10% DMSO groups. CONCLUSION: These results suggested that conventional cryopreservation method using programmed freezer with 10% DMSO was more effective in the cryopreservation of hematopoietic stem cells.

CD68 Positive Histiocytic Necrotizing Lymphadenitis / 대한소아혈액종양학회지

Histiocytic necrotizing lymphadenitis (Kikuchi's disease) is a cause of benign lymphadenitis, most commonly affecting young women and usually presenting as a painless or painful cervical lymphadenopathy sometimes associated with fever and leukopenia. Less frequent symptoms include weight loss, nausea, vomiting, and night sweats. We experienced two cases of histiocytic necrotizing lymphadenitis in an 11-year-old boy and a 13-year-old boy. They presented cervical lymphadenopathy with fever in one patient and without fever in the other patient. Lymph node enlargement did not respond to antibiotics. We performed surgical biopsy of cervical lymph node which was consistent with histiocytic necrotizing lymphadenitis. In one patient CD8 T cells and CD68 histiocytes were shown in immunohistochemical stain. So we report two cases of histiocytic necrotizing lymphadenitis with brief review of the related literature.