Search

Purpose Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

Background Respiratory virus (RV) infection can cause significant morbidity and mortality in pediatric cancer patients. Parainfluenza virus (PIV) is a common pathogen in childhood among the respiratory viruses. The objective of this study is to evaluate the impact of parainfluenza virus infection in pediatric cancer patients. Procedure A retrospective review of medical records of 1,554 children diagnosed with cancer from January 2000 through July 2008 was analyzed at Samsung Medical Center. Results A total of 6.4% (137/1,554) had respiratory virus infection and 54% (74/137) of patients with RV infection had PIV infection. PIV type 3 was the predominant subtype. Among patients with PIV infection, 59 children (79.7%) had upper respiratory tract infection (URI) whereas 15 children (20.3%) had lower respiratory tract infection (LRI) at initial presentation. Among patients with URI, 12 (20.3%) progressed to pneumonia with the median interval of 4 days from URI to LRI. Mortality associated with PIV infection was 18.5% (5/27) in patients with LRI. Among patients with PIV infection, 80% (59/74) had nosocomial infection, which shows the difficulty and importance of infection control at pediatric cancer ward. Conclusions PIV infection was most commonly diagnosed among pediatric cancer patients with RV infection and PIV infection led to significant pulmonary complications and direct mortality in immunocompromised children. Since there are no effective antiviral agents for PIV infection, precautionary infection control and early diagnosis are the only methods available to prevent the infection spread. Pediatr Blood Cancer 2012;59:708–710. © 2012 Wiley Periodicals, Inc.

Prader–Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The genetic subtypes of PWS are classified into deletion (∼70%), maternal uniparental disomy (mUPD; 25–30%), imprinting center defects (3–5%) and rare unbalanced translocations. Recently, Matsubara et al. reported a significantly higher maternal age in a trisomy rescue (TR) or gamete complementation (GC) by nondisjunction at maternal meiosis 1 (M1) group than in a deletion group. In the present study, we try to confirm their findings in an ethnically different population. A total of 97 Korean PWS patients were classified into deletional type (n=66), TR/GC (M1) (n=15), TR/GC by nondisjunction at maternal meiosis 2 (n=2), monosomy rescue or postfertilization mitotic nondisjunction (n=4) and epimutation (n=2). Maternal ages at birth showed a significant difference between the deletion group (median age of 29, interquartile range (IQR)=(27,31)) and the TR/GC (M1) group (median age of 35, IQR=(31,38)) (P

Purpose Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups. Methods The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from 2006 to 2010 for the evaluation of precocious puberty. Study groups comprised fast puberty, true precocious puberty (PP), pseudo PP, premature thelarche, and control. We determined the height standard deviation score (HSDS), weight standard deviation score (WSDS), and body mass index standard deviation score (BMISDS) of each group using the published 2007 Korean growth charts. Hormone tests were performed at our outpatient clinic. Results The PP groups comprised fast puberty (67%), premature thelarche (17%), true PP (15%), and pseudo PP (1%). Advanced bone age and levels of estradiol, basal luteinizing hormone (LH), and peak LH after gonadotropin-releasing hormone stimulation testing were significantly high in the fast puberty and true PP groups compared with the control group. HSDS, WSDS, and BMISDS were significantly higher in the true PP group than in the control group (P

Respiratory virus (RV) infection can cause significant morbidity and mortality in pediatric cancer patients. Parainfluenza virus (PIV) is a common pathogen in childhood among the respiratory viruses. The objective of this study is to evaluate the impact of parainfluenza virus infection in pediatric cancer patients.A retrospective review of medical records of 1,554 children diagnosed with cancer from January 2000 through July 2008 was analyzed at Samsung Medical Center.A total of 6.4% (137/1,554) had respiratory virus infection and 54% (74/137) of patients with RV infection had PIV infection. PIV type 3 was the predominant subtype. Among patients with PIV infection, 59 children (79.7%) had upper respiratory tract infection (URI) whereas 15 children (20.3%) had lower respiratory tract infection (LRI) at initial presentation. Among patients with URI, 12 (20.3%) progressed to pneumonia with the median interval of 4 days from URI to LRI. Mortality associated with PIV infection was 18.5% (5/27) in patients with LRI. Among patients with PIV infection, 80% (59/74) had nosocomial infection, which shows the difficulty and importance of infection control at pediatric cancer ward.PIV infection was most commonly diagnosed among pediatric cancer patients with RV infection and PIV infection led to significant pulmonary complications and direct mortality in immunocompromised children. Since there are no effective antiviral agents for PIV infection, precautionary infection control and early diagnosis are the only methods available to prevent the infection spread.

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.

Methods: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. Results: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 ± 0.94; deletion, 0.84 ± 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS, and IGF-I SDS also showed no differences between the two groups. Conclusion: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.

Pneumopericardium is a rare form of neonatal air leakage. Tension pneumopericardium is much more infrequent, but can cause a cardiovascular deterioration with high mortality up to 80% and neurodevelopmental morbidity in half of the cases. We report two cases of preterm infants who successfully recovered from tension pneumopericardium that developed during mechanical ventilator assistance. The patients displayed a sudden increase in oxygen demand and subsequent cardiovascular deterioration. Immediate needle aspiration of the pneumopericardium performed after checking X-ray images rescued each of patient. Since the clinical symptoms are non-specific, clinicians’ suspicion is most important when patients show sudden refractory cardiovascular collapse, especially in ventilator-assisted neonates. This life threatening complication demands instant diagnosis and intervention.