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.
Arthralgia ; Child ; Depression ; Dermatomyositis ; Exanthema ; Humans ; Joints ; Medical Records ; Muscle Weakness ; Muscles ; Myositis ; Retrospective Studies ; Skin

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.
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Dystrophin/*genetics ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Ligase Chain Reaction ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/*genetics ; Mutagenesis, Insertional ; Republic of Korea ; Sequence Analysis, DNA ; Sequence Deletion

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.
Aged ; Child ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Needles ; Punctures ; Spinal Puncture ; Spine

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.
Acute Kidney Injury* ; Back Pain ; Bed Rest ; Blood Urea Nitrogen ; Brain ; Cerebrospinal Fluid Leak ; Child* ; Connective Tissue ; Creatinine ; Follow-Up Studies ; Headache ; Hematologic Tests ; Humans ; Intracranial Hypotension* ; Low Back Pain ; Magnetic Resonance Imaging ; Male ; Migraine Disorders ; Myelography ; Neck ; Neurologic Examination ; Spine ; Walking

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.

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.
Cerebrospinal Fluid* ; Child* ; Electronic Health Records ; Enterovirus ; Headache ; Humans ; Infant ; Inflammation ; Leukocyte Count ; Leukocytosis* ; Meningitis* ; Prevalence ; Retrospective Studies ; Reverse Transcriptase Polymerase Chain Reaction ; Spinal Puncture ; Vomiting

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.
Anticonvulsants ; Carbamazepine ; Child ; Epilepsy, Frontal Lobe ; Exanthema ; Humans ; Hypersensitivity ; Phenobarbital ; Phenytoin ; Seizures

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.
Abdominal Pain ; Adult ; Back Pain ; Female ; Humans ; Leg ; Leukocytosis ; Male ; Medical Records ; Multiple Sclerosis ; Myelitis, Transverse ; Neurologic Manifestations ; Prognosis ; Retrospective Studies ; Spine ; Stress, Psychological ; Walking

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(<2x10(6)/kg). However, the difference in the duration of high fever according to the number of CD34+ cells was not clinically significant. CONCLUSION: Findings in this study suggest that HDCT and ASCT with low CD34+ cell dose is clinically feasible despite delayed hematologic recovery, especially at a 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.
Blood Platelets ; Child ; Drug Therapy* ; Fever ; Hematopoietic Stem Cells ; Humans ; Medical Records ; Neutrophils ; Retrospective Studies ; Stem Cell Transplantation* ; Stem Cells* ; Thiotepa ; Whole-Body Irradiation