A Case of Adrenal Myelolipoma Associated with Hereditary Spherocytosis / 임상소아혈액종양

Hereditary spherocytosis is the most common hereditary red blood cell membrane disorder. It results from a deficiency in certain proteins that are part of the red blood cell membrane cytoskeleton. We report a case of adrenal myelolipoma in a 23-yearold patient with hereditary spherocytosis. She was diagnosed with hereditary spherocytosis at 7 months of age. As she grew older, hemoglobin level was low, so splenectomy was recommended, but continuous follow up was not possible due to the circumstances of the patient, so the splenectomy was delayed. Adrenal myelolipoma was discovered incidentally at the age of 23 with abdominal pain and cholecystitis with gallstones at the time. Myelolipoma is a benign tumor of the mesenchymal origin;its etiology remains unclear. Myelolipoma is composed of adipose and hematopoietic tissues and mainly arises from adrenal tissues. The mass is often detected during routine radiologic examinations because myelolipoma is usually asymptomatic and not generally associated with hematologic diseases. The prevalence of myelolipoma appears to be increasing due to the increased use of imaging modalities. The association of myelolipoma with hereditary spherocytosis has rarely been reported in the literature. To our best knowledge, this is the first report of adrenal myelolipoma associated with hereditary spherocytosis in the Korean population.

Significance of Evaluation for von Willebrand Disease in Premenopausal Women with Iron Deficiency Anemia and Menorrhagia / 임상소아혈액종양

Background@#In Korea, in the case of patients with significant bleeding symptoms due to unknown causes, there are very few studies that evaluate bleeding disorders, including von Willebrand disease (VWD ). VWD should be considered as an important causative factor in patients with iron deficiency anemia (IDA) and unexplained menorrhagia. This study aimed to understand the clinical characteristics of VWD and the significance of evaluation for VWD in premenopausal women in Korea with menorrhagia and ID A. @*Methods@#Premenopausal women who were diagnosed with IDA and menorrhagia from January 2009 to March 2020 were included. IDA was diagnosed by either low ferritin or transferrin saturation with microcytic anemia. Menorrhagia was evaluated based on the medical records obtained from a gynecologist. VWD diagnosis was defined as von Willebrand factor antigen ＜50% and von Willebrand factor ristocetin cofactor activity ＜50%, which were low according to the Hospital for Sick Children criteria. @*Results@#Out of a total of 120 patients, only 12 were tested for VWD, all of whom were pediatric patients. Four of the 12 pediatric patients tested were diagnosed with VWD and 4 of the 120 (3.3%) patients with IDA and menorrhagia were diagnosed with VWD. Three out of the 4 patients was diagnosed with VWD by repeat screening test. Although all parameters are not statistically significant, VWD patients tended to have ID A at a younger age (13.25 vs. 15.00 years) and were more likely to have recurrent IDA than patients without VWD. @*Conclusion@#Clinical doctors should consider VWD if patients have menorrhagia with ID A. If VWD is suspected, repeated VWD screening tests are necessary to increase the diagnosis rate. Accurate diagnosis of VWD in patients with significant bleeding may facilitate decisions for appropriate treatment.

Significance of Evaluation for von Willebrand Disease in Premenopausal Women with Iron Deficiency Anemia and Menorrhagia / 임상소아혈액종양

Background@#In Korea, in the case of patients with significant bleeding symptoms due to unknown causes, there are very few studies that evaluate bleeding disorders, including von Willebrand disease (VWD ). VWD should be considered as an important causative factor in patients with iron deficiency anemia (IDA) and unexplained menorrhagia. This study aimed to understand the clinical characteristics of VWD and the significance of evaluation for VWD in premenopausal women in Korea with menorrhagia and ID A. @*Methods@#Premenopausal women who were diagnosed with IDA and menorrhagia from January 2009 to March 2020 were included. IDA was diagnosed by either low ferritin or transferrin saturation with microcytic anemia. Menorrhagia was evaluated based on the medical records obtained from a gynecologist. VWD diagnosis was defined as von Willebrand factor antigen ＜50% and von Willebrand factor ristocetin cofactor activity ＜50%, which were low according to the Hospital for Sick Children criteria. @*Results@#Out of a total of 120 patients, only 12 were tested for VWD, all of whom were pediatric patients. Four of the 12 pediatric patients tested were diagnosed with VWD and 4 of the 120 (3.3%) patients with IDA and menorrhagia were diagnosed with VWD. Three out of the 4 patients was diagnosed with VWD by repeat screening test. Although all parameters are not statistically significant, VWD patients tended to have ID A at a younger age (13.25 vs. 15.00 years) and were more likely to have recurrent IDA than patients without VWD. @*Conclusion@#Clinical doctors should consider VWD if patients have menorrhagia with ID A. If VWD is suspected, repeated VWD screening tests are necessary to increase the diagnosis rate. Accurate diagnosis of VWD in patients with significant bleeding may facilitate decisions for appropriate treatment.

A Case of Spontaneous Intracranial Hypotension Accompanied by Acute Kidney Injury in a Child / 대한소아신경학회지

Spontaneous intracranial hypotension in childhood is rare, and a few cases have been reported as a cause of headache in children. A 9-year-old boy was admitted to our hospital with a 3-day history of new-onset headache that worsened upon standing or walking, and aggravating low back pain. No medical history of injury, connective tissue disorder or migraine was detected. A neurological examination revealed neck stiffness. His initial blood tests suggested acute kidney injury by increased blood urea nitrogen (BUN) and creatinine. Brain computed tomography (CT) and cerebral spinal fluid (CSF) analysis were normal: however, opening pressure was low (< 60 mm H₂O). Magnetic resonance imaging (MRI) of the spine showed a collection of cerebral spinal fluid in the dorsal extradural space throughout the entire thoracic and lumbar spine level. The patient was diagnosed as having spontaneous intracranial hypotension accompanied by acute kidney injury. Magnetic resonance myelography and spinal MRI performed 14 days later did not show any cerebrospinal fluid leak. The headache and back pain were alleviated with strict bed rest and hydration. He remained free of headache and back pain at the 2-month follow-up. Here, we report a case of a 9-year-old boy with spontaneous intracranial hypotension.

Clinical Characteristics of Enteroviral Meningitis without Cerebrospinal Fluid Pleocytosis in Children

PURPOSE: The purpose of this study was to investigate the clinical features and laboratory findings of enteroviral meningitis according to the presence of cerebrospinal fluid (CSF) pleocytosis, and to investigate the factors influencing pleocytosis in children. METHODS: A retrospective study was conducted in 300 children with enteroviral meningitis confirmed by CSF reverse transcriptase polymerase chain reaction (RT-PCR) between 2012 and 2016. Electronic medical records including clinical and laboratory data were assessed. Clinical factors were compared between patients with and without pleocytosis. RESULTS: Of the total 300 children with enteroviral meningitis, 73 had no pleocytosis. The proportion of infants under the age of two years was higher in patients without pleocytosis than in patients with pleocytosis (39.7% vs 14.5%, P<0.001). Patients without pleocytosis were younger (43.4 months vs 66.2 months, P<0.001), had less prevalence of headache and vomiting, lower peripheral white blood cell count (9,740±3,555/mm³ vs 11,632±3,872/mm³) and a shorter interval between the onset and lumbar puncture than those with pleocytosis. In multiple regression analysis, younger age, vomiting, lower white blood cell count, and interval less than 24 hours from onset to spinal tap were associated with the absence of pleocytosis. CONCLUSION: This study showed that children younger than two years of age had high proportion of absence of pleocytosis and some of the factors analyzed correlated with CSF inflammation. Therefore, absence of pleocytosis in the initial CSF sample cannot exclude meningitis, and rapid RT-PCR testing should be performed with high suspicion in young infants.

Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.

The Early Clinical Manifestations and Prognostic Factors of Juvenile Dermatomyositis

PURPOSE: Juvenile dermatomyositis (JDM) is a common inflammatory myopathy in childhood. However, the diagnosis is often delayed because it frequently present with non-specific symptoms. In addition, there are conflicting opinions about the prognostic factors of JDM. The aim of this study is to delineate the initial clinical symptoms and prognostic factors of JDM. METHODS: We retrospectively reviewed the medical records of 15 patients who were diagnosed as JDM, in Samsung medical center between Dec 1994 and Aug 2011. RESULTS: We enrolled 15 patients (M:F=9:6). Among the 14 patients who were followed-up for more than six months, six patients were included in remission group, five in partial remission group, and the other three in non-remission group. The initial symptoms were skin lesions (80.0%), muscle weakness (53.3%), and pain of joint or muscle (46.7%). The interval between initial symptoms and clinical diagnosis was mean 0.4 (0.1-2.4) years. Nine patients (60%) were taken more than two months for diagnosis. The symptoms at diagnosis were motor weakness and skin rash in all patients, myalgia or arthralgia in 12 (75%) patients. The mood changes such as depression, irritability, easy fatigability were noted in 10 (66.7%) patients. There were no significant prognostic factors. CONCLUSION: Although JDM may initially present with nonspecific symptoms in children, it should be suspected in case of acute progressive motor weakness with symmetric skin rash and mood change. About three quarters of the patients were under control with treatment and there were no significant prognostic factors in this study.

Successful Desensitization of Oxcarbazepine: First Case in Pediatric Patient

Aromatic antiepileptic drugs (AEDs), such as diphenylhydantoin, phenobarbital, or carbamazepine (CBZ), are frequently associated with hypersensitivity reactions. This may restrict treatment options considerably due to cross reactivity with other aromatic AEDs. Desensitization can be very helpful for patients who show cross sensitivity with other AEDs. We report a case an 8-year-old patient who had cross sensitivity to oxcarbazepine (OXC) and CBZ and successfully managed by desensitization to OXC. The patient presented with intractable frontal lobe epilepsy. He had become seizure free with OXC; however OXC had to be discontinued due to whole body rash. CBZ also caused a hypersensitivity reaction. Therefore, OXC desensitization was attempted; he then had very subtle seizures during sleep with a frequency of 5 to 6 episodes per month on the 18th month of desensitization. Desensitization can be considered in a patient with limited treatment options due to hypersensitivity to aromatic AEDs.

Clinical Characteristics of Acute Transverse Myelitis in Childhood

PURPOSE: We performed this study to investigate clinical and radiological features, CSF findings, clinical courses and prognostic factors of acute transverse myelitis(ATM) in pediatric patients. METHODS: A retrospective review of the medical records was performed for 15 patients with ATM under the age of 16 years from January 1997 to January 2007. RESULTS: The mean age at onset was 9.3+/-4.4 years, and the male to female ratio was 1.5:1. During the initial phase, the common presenting symptoms were back pain, abdominal pain, leg pain and weakness. Motor deficits progressed in all patients and urinary difficulty was found in 13 patients(86.7%). CSF leukocytosis was found in four patients and protein was elevated in nine patients among the 12 patients who underwent CSF study. On spine MRI, high signal intensity in T2-weighted image was mainly identified at the cervicothoracic level in 11 patients(73.3 %). According to Paines scale, 11 patients(73.3%) had normal or good outcomes. Favorable outcomes were associated with shorter duration of maximal neurologic deficits, an early recovery, and shorter interval to independent walking. In this study, we described two patients suffering from relapsing myelits without any association with a systemic disease. One patient was diagnosed as idiopathic recurrent transverse myelitis(IRTM) and the other was re-diagnosed as multiple sclerosis(MS). CONCLUSION: The prognosis of ATM in childhood is better than that reported for adults. The clinical symptoms and the extent of lesions in MRI were not correlated with outcomes. However earlier recovery was significantly associated with favorable outcomes.

Determination of Needle Depth for Lumbar Puncture in Children Using Spine Magnetic Resonance Imaging

PURPOSE: This study was performed to find the applicable equations which determine the proper needle depth for lumbar puncture in Korean pediatric patients using spine magnetic resonance imaging(MRI). METHODS: The authors enrolled the patients who had spine MRI from August 2007 to June 2008 and were aged less than 20 years. Eighty eight patients whose height(Ht.) and weight(Wt.) were recorded within 10 days from spine MRI were recruited. The posterior dural depths and dural widths were measured on each L2-3, L3-4, and L4-5 levels of intervertebral space. By comparing the R squares, the most significant independent variables for posterior dural depth were selected, and by calculating malposition rate, the further insertion distance from posterior dural depth and the final puncture depth equation were determined. RESULTS: The proper puncture depths with the lowest malposition rate were as follows. L2-3 puncture depth (mm) = 126.5xWt./Ht. (kg/cm)+7.1 or 0.613xWt. (kg)+16.1 L3-4 puncture depth (mm) = 136.0xWt./Ht. (kg/cm)+7.6 or 0.656xWt. (kg)+17.3 L4-5 puncture depth (mm) = 138.3xWt./Ht. (kg/cm)+7.5 or 0.665xWt. (kg)+17.5 CONCLUSION: Lumbar puncture depth is best predicted using weight and height as independent variables. And the equations of each tap sites were different in constants. Using this formula, the rate of failure and complication in lumbar can be diminished, but it should be validated by further studies.

Neuropsychological Outcome after Epilepsy Surgery in Pediatric Patients

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.

Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method / 소아과

PURPOSE: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity. METHODS: A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. RESULTS: All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. CONCLUSION: All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.

Effect of prophylactic indomethacin in extremely low birth weight infants / 소아과

PURPOSE: The purpose of this study was to investigate the effect of prophylactic indomethacin on reduction of patent ductus arteriosus(PDA) and intraventricular hemorrhage(IVH) in extremely low birth weight infants(ELBWI). METHODS: Retrospective review of 84 ELBWI who were admitted to our neonatal intensive care unit from June 2004 to April 2006 was performed. Patients were divided into prophylactic group(n=28) and control group(n=56), where prophylactic indomethacin were given within 6 hours after birth. Clinical outcomes were compared between these groups. RESULTS: There were no significant differences in gestational age, birth weight, incidence of hemodynamically significant PDA and severe IVH, and mortality between prophylactic group and control group. However, there were more frequent indications for therapeutic indomethacin, higher incidence of intestinal perforation, and longer time to achieve full enteral feeding in prophylactic group than control group. The incidence of other adverse events attributed to indomethacin prophylaxis did not differ between two groups. CONCLUSIONS: Prophylactic indomethacin may not prevent hemodynamically significant PDA and severe IVH in ELBWI. On the contrary, it may be associated with increased risk of adverse events. Further efforts should be investigated to decrease PDA and severe IVH in ELBWI.

Factors affecting hematologic recovery and infection in high-dose chemotherapy and autologous stem cell transplantation in patients with high-risk solid tumor / 소아과

PURPOSE: The purpose of this study was to evaluate factors affecting hematologic recovery and infection in high-dose chemotherapy(HDCT) and autologous stem cell transplantation(ASCT) in patients with high-risk solid tumor. METHODS: From January 2004 to December 2005, 72 HDCTs and ASCTs were applied to children with high-risk solid tumor at Samsung Medical Center. Medical records of these 72 HDCTs and ASCTs were retrospectively analyzed. RESULTS: The single most powerful predictor of neutrophil and platelet recovery was the number of transplanted CD34+ cells. The duration of high fever was significantly longer in young patients, in patients treated with total body irradiation and/or thiotepa, and in patients transplanted with lower CD34+ cell dose(1x10(6)/kg per transplantation. Therefore, it is important not to defer the appropriate time for HDCT for an additional collection of hematopoietic stem cells if the number of collected CD34+ cells is >1x10(6)/kg per transplantation.

Epidemiology of Respiratory Syncytial Virus Lower Respiratory Tract Infection and Analysis of Risk Factors in Severe Infections from 1995 to 2004 / 소아알레르기및호흡기학회지

PURPOSE: Respiratory syncytial virus (RSV) infection is the one of the leading causes of hospitalization of infants in the worldwide. In particular, children younger than 6 weeks of age prematurity, bronchopulmonary dysplasia, congenital heart disease, neuromuscular disease, or immunosuppressive states are likely to have severe RSV infection. This study aims to review the epidemiologic characteristics of RSV infection and to examine the relationship of risk factors for severe disease courses and length of hospital stay. METHODS: A total of 294 patients with acute lower respiratory tract infections by RSV who were hospitalized in Samsung Medical Center from December 1995 to June 2004 were enrolled in this study. The medical records were retrospectively reviewed. RSV was detected with rapid RSV antigen test or viral culture of nasopharyngeal aspirates. RESULTS: The male to female ratio was 1.7: 1. Children under 2 years old made up 86 percent; bronchiolitis and pneumonia patients made up 90 percent. Outbreaks of RSV occurred in September through February. One or more risk factor for severe RSV infection were present in 40 percent. The group with risk factors had longer length of hospital stay (P< 0.05), were more likely to be admitted to the pediatric intensive care unit (PICU) and required oxygen therapy and mechanical ventilation (P< 0.05) compared to the groups without risk factors. CONCLUSION: Infants and children with high risk factors are likely to develop severe RSV infection. Early detection and proper management is necessary in Korea, especially in fall and winter.