A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene

No abstract available.

Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report / 대한주산의학회잡지

Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.

Brain abscess in Korean children: A 15-year single center study / 소아과

PURPOSE: A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. METHODS: A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. RESULTS: Twenty-five patients were included in this study. On average, 1.67 cases per year were identified and the median age was 4.3 years. The common presenting clinical manifestations were fever (18/25, 72%), seizure (12/25, 48%), altered mental status (11/25, 44%), and signs of increased intracranial pressure (9/25, 36%). A total of 14 (56%) patients had underlying illnesses, with congenital heart disease (8/25, 32%) as the most common cause. Predisposing factors were identified in 15 patients (60%). The common predisposing factors were otogenic infection (3/25, 12%) and penetrating head trauma (3/25, 12%). Causative organisms were identified in 64% of patients (16/25). The causative agents were S. intermedius (n=3), S. aureus (n=3), S. pneumoniae (n=1), Group B streptococcus (n=2), E. coli (n=1), P. aeruginosa (n=1), and suspected fungal infection (n=5). Seven patients received medical treatment only while the other 18 patients also required surgical intervention. The overall fatality rate was 16% and 20% of patients had neurologic sequelae. There was no statistical association between outcomes and the factors studied. CONCLUSION: Although uncommon, a brain abscess is a serious disease. A high level of suspicion is very important for early diagnosis and to prevent serious consequences.

Neuropsychological Outcome after Epilepsy Surgery in Pediatric Patients / 대한소아신경학회지

PURPOSE: With this study, we evaluated the operative and neuropsychological outcomes after epilepsy surgery in children. METHODS: We studied the surgical outcomes and the possibly related factors retrospectively by reviewing the medical records of 28 patients who underwent epilepsy surgery before the age of 15 years along with the battery of neuropsychological tests. RESULTS: The mean age of seizure onset was 84.8 months, and the mean period at the surgery after the onset of seizure was 62.4 months. Among 28 patients, 15 had complex partial seizures(CPS) only, 11 CPS with secondary generalization, and two simple partial seizures in addition to CPS. The types of the surgery included anterior temporal lobectomy with amygdalo-hippocampectomy(9 patients), extra-temporal or lateral temporal resection with temporal lobectomy(16 patients), and extra-temporal resection(3 patients). Evaluating their surgical outcomes, 21 patients belonged to Engel class I, five to class II, and each one to class III and IV respectively. There was no significant difference in full scale intelligence quotient(IQ) and verbal IQ after the epilepsy surgery. However, the performance IQ was higher in the older age group after the operation(P=0.011). When the patients were divided into two prognostic groups, the Engel classification after the surgery was the only significant influencing factor(P=0.037). CONCLUSION: The intelligence quotient and memory did not deteriorate after the epilepsy surgery. The overall neuropsychological outcomes improved in about half of the patients. And it was significantly influenced by the seizure outcomes after the surgery.

Diagnosis of Duchenne/Becker Muscular Dystrophy: Clinical and Moleculargenetic Characteristics / 대한소아신경학회지

PURPOSE: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive disease caused by the mutation of dystrophin gene. Since the majority of mutations are deletions, recent diagnosis is made by the moleculargenetic tools. The authors summarized the clinical characteristics, and analyzed the moleculargenetic and immunohistochemical characteristics of DMD/BMD. METHODS: We reviewed the clinical and laboratory findings of 69 patients diagnosed as DMD/BMD from 1989 to 2000. Multiplex PCR using 26 primer sets was performed on 34 cases, and immunohistochemical staining using dystrophin antibody was done on 5 cases. Mutation profile and phenotype-genotype relationship were analyzed. RESULTS: 1) Mean age of onset was 3 years and 6 months. The presenting symptoms were motor weakness of the lower extremities, incidentally found elevated hepatic enzyme level, abnormal gait and motor developmental delay. Forty one percent had history of motor developmental delay, and most patients showed pseudohypertrophic calf muscles. Mean serum creatine kinase level was 11,232IU/L, and 44% revealed abnormal electrocardiogram. 2) All of the 63 cases showed typical histological findings of muscular dystrophy. Of the 5 cases with immunohistochemical staining, 2 showed complete (DYS1, 2 and 3) and 3 showed partial (DYS3) absence pattern. 3) Of the 34 cases on which multiplex PCR was performed, 14 showed deletions, and 11 of them had deletions between exon 44 and 55. CONCLUSION: Since the deletions were detected in less than 50% of the patients with multiplex PCR, tools for dystrophin protein expression must be combined for the correct diagnosis. Considering the invasiveness of muscle biopsy, we conclude immunohistochemistry should be followed in the cases with negative results in multiplex PCR, although moleculargenetic study is the primary diagnostic tool.

Four Cases of Acute Parotitis in Acute Lymphoblastic Leukemia Patients Developed during Induction Chemotherapy Including L-Asparaginase / 대한소아혈액종양학회지

L-asparaginase is an essential chemotherapeutic agent in the treatment of the acute lymphoblastic leukemia or non-Hodgkin lymphoma with its unique mechanism of action. It has many toxic effects involving multiple organs. The acute parotitis associated with L-asparaginase has been rarely reported. In this report, acute parotitis developed in the 4 acute lymphoblastic leukemia patients who were treated with the induction chemotherapy regimen including L-asparaginase. Mumps was excluded in 3 patients and the evidence of coexisting pancreatitis was observed in 2 patients. The parotid ultrasonography revealed diffuse enlargement in all patients. The symptoms were spontaneously resolved with no specific treatment, and in all cases there was no recurrence of the same disease with later maintenance chemotherapy including L-asparaginase. The possible mechanism of the acute parotitis is not yet clearly understood. But considering its histologic similarity with the pancreas, the depletion of L-asparagine may damage the acinar cells of parotid gland. The acute parotitis is not a well-known side effect of L-asparaginase but it needs to be promptly recognized in order to consider the discontinuation of the L-asparaginase and to exclude any viral infection requiring isolation.