Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
Copper ; Hair ; Humans ; Intellectual Disability ; Male ; Menkes Kinky Hair Syndrome* ; Muscle, Smooth ; Nitric Oxide ; Nitric Oxide Synthase ; Pyloric Stenosis ; Pyloric Stenosis, Hypertrophic* ; Relaxation ; Seizures ; Vomiting

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).
3-O-Methylglucose ; Ataxia ; Atrophy ; Blood Glucose ; Blood-Brain Barrier ; Brain ; Cerebrospinal Fluid ; Child ; Diagnosis ; Dilatation ; Electroencephalography ; Erythrocytes ; Follow-Up Studies ; Glucose ; Glucose Transport Proteins, Facilitative* ; Glucose Transporter Type 1 ; Humans ; Intellectual Disability ; Introns ; Lactic Acid ; Leukocytes ; Magnetic Resonance Imaging ; Male ; Meals ; Microcephaly ; Muscle Spasticity ; Natural History ; Seizures

Epstein-Barr virus rarely causes encephalitis which has a benign outcome. About 90% of children have a benign clinical course without neurologic sequelae. However, 10% have residual persistent deficits and a mortality rate of up to 10% has also been reported. An 11-month-old boy was admitted after general weakness and poor oral intake. On day 7 of hospitalization, three vomiting episodes occurred and followed by a seizure. Brain T1-weighted magnetic resonance imaging (MRI) showed a hyperintensity with mild diffusion restriction in the cortex and subcortical white matter of the bilateral frontal, parietal, and occipital lobes. Analysis of a cerebrospinal fluid (CSF) sample revealed WBC count of 10 /microL (neutrophils 21%, lymphocytes 78%), red blood cell count of 19,000 /uL. CSF EBV polymerase chain reaction (PCR) was positive. Positive results were also obtained for serum EBV viral capsid antigen (VCA) IgM (>4 U/mL), IgG (>8 U/mL), EBV Ebstein Barr nuclear antigen (EBNA) IgG (>8 U/mL). Despite therapy with acyclovir, phenobarbital and steroids, a brain MRI conducted on day 34 showed extensive parenchymal volume atrophy and secondary ventricular dilatation, diffuse progressive signal change in the entire cerebrum and diffuse gyral enhancement in the entire cerebrum. The patient was discharged on day 129 and was transferred to other hospital. After 3month of discharge, the patient's mental status was still drowsy, both arms and legs showed rigidity, and deep tendon reflex were hyperactive. We report an 11-month-old child with rapidly progressive severe encephalitis associated with Epstein-Barr virus.
Acyclovir ; Arm ; Atrophy ; Brain ; Capsid ; Cerebrospinal Fluid ; Cerebrum ; Child ; Diffusion ; Dilatation ; Encephalitis* ; Erythrocyte Count ; Herpesvirus 4, Human* ; Hospitalization ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Infant ; Leg ; Lymphocytes ; Magnetic Resonance Imaging ; Male ; Mortality ; Occipital Lobe ; Phenobarbital ; Polymerase Chain Reaction ; Rabeprazole ; Reflex, Stretch ; Seizures ; Steroids ; Vomiting

Enterovirus 71 has been recognized as being highly central nervous system (CNS) involved and presents with diverse neurologic manifestations. Brainstem encephalitis is the most common neurologic manifestation of CNS involvement by enterovirus 71, and manifests myoclonus, ataxia, tremor, and autonomic dysfunction such as pulmonary hemorrhage. Here we report a 31-month-old girl with enterovirus 71 brainstem encephalitis presenting with pulmonary hemorrhage and acute heart failure. The patient was admitted to emergency department of our hospital due to high-grade fever, vomiting, myoclonus, and tremor 4 days after hand, foot and mouth disease. Four hours after admission, the patient presented with pulmonary hemorrhage and acute heart failure. CSF analysis demonstrated white blood cell 60/mm3, red blood cell 1/mm3, protein 43.0 mg/dL, and glucose 149 mg/dL. Despite aggressive management including intravenous immunoglobulin, milrinone and empirical antimicrobial therapy, the patient died due to uncontrolled pulmonary hemorrhage and shock in 15 hours after admission at emergency department. In stool specimen obtained from the patient, enterovirus 71 (subgenotype C4a) was detected. This case suggests that an early diagnosis of central nervous system involvement in patient with enterovirus 71 infection is vital because brainstem encephalitis resulting from enterovirus 71 infection can rapidly progress to the critical state of disease.
Ataxia ; Brain Stem* ; Central Nervous System ; Child, Preschool ; Early Diagnosis ; Emergency Service, Hospital ; Encephalitis* ; Enterovirus* ; Erythrocytes ; Female ; Fever ; Glucose ; Hand, Foot and Mouth Disease ; Heart Failure* ; Hemorrhage* ; Humans ; Immunoglobulins ; Leukocytes ; Milrinone ; Myoclonus ; Neurologic Manifestations ; Shock ; Tremor ; Vomiting

Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Anemia ; Brain ; Child ; Congenital Abnormalities ; Female ; Humans ; Hydrocephalus* ; Infant ; Korea ; Magnetic Resonance Imaging ; Osteopetrosis* ; Osteoporosis ; Osteosclerosis ; Rare Diseases ; Rickets* ; Skull

In general, intractable hiccups are uncommon. Various drugs and interventions have been reported, but there is no consensus on the treatment of intractable hiccups. We report a patient with meningitis and rhombencephalitis who presented with intractable hiccups that were resolved following treatment with benztropine. A 17-year-old boy was admitted to another hospital with a two-week history of fever and headache. A cerebrospinal fluid (CSF) test showed an increased white blood cell (WBC) count (290/muL, monocytes 100%). He was diagnosed with meningitis and treated with ceftriaxone. Two days after admission, hiccups started and lasted for eight days, despite treatment with phenobarbital, diazepam, haloperidol, phenytoin, and chlorpromazine. He was transferred to our hospital for further evaluation and treatment. He was clinically diagnosed with rhombencephalitis based upon the findings of brain magnetic resonance imaging (MRI). The fever and headache disappeared one day later. However, the hiccups persisted, despite symptomatic treatment with chlorpromazine, gabapentin, and metoclopramide. The hiccups disappeared after one day of adding benztropine without relapse. Benztropine can be considered in the treatment of intractable hiccups.
Adolescent ; Benztropine* ; Brain ; Ceftriaxone ; Cerebrospinal Fluid ; Chlorpromazine ; Consensus ; Diazepam ; Encephalitis ; Fever ; Haloperidol ; Headache ; Hiccup* ; Humans ; Leukocytes ; Magnetic Resonance Imaging ; Male ; Meningitis ; Metoclopramide ; Monocytes ; Phenobarbital ; Phenytoin ; Recurrence

Duchenne muscular dystrophy (DMD) is the most common and severe form of childhood muscular dystrophy. Females are affected in rare cases because of its' X-linked, recessive inheritance. A small number of female DMD carriers have muscle weakness to some extent. A healthy 8-month-old girl was brought to our tertiary center because of the elevated serum liver enzyme (aspartate aminotransferase (AST): 986 IU/mL, alanine aminotransferase (ALT): 1,126 IU/mL), that was first noted 1 month ago when she was hospitalized for an acute respiratory infection. Follow-up her serum liver enzyme, AST and ALT level remained increased to 613 and 1,049 IU/mL, respectively without serologic evidence of viral hepatitis. Serum creatinine kinase (CK) level was highly elevated to 5,245 U/L. She showed normal development. Pseudohypertrophy of bilateral calf muscle was not observed, and Gowers' sign was not seen because of her young age. Electromyography and cardiac echocardiography showed no abnormal findings. A multiplex ligation-dependent probe amplification confirmed the heterozygote deletion mutation of DMD gene in exon 10-17. The result of karyotyping was normal 46,XX. She was diagnosed as an asymptomatic DMD carrier. Female carriers are usually asymptomatic but may have an elevated serum CK and/or mild calf hypertrophy. A girl with persistent elevated liver enzyme and CK level should be evaluated for the neuromuscular disease including DMD, despite her normal motor activity.
Alanine Transaminase ; Creatinine ; Echocardiography ; Electromyography ; Exons ; Female ; Follow-Up Studies ; Hepatitis ; Heterozygote ; Humans ; Hypertrophy ; Infant* ; Karyotyping ; Liver ; Motor Activity ; Multiplex Polymerase Chain Reaction ; Muscle Weakness ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne* ; Neuromuscular Diseases ; Phosphotransferases ; Sequence Deletion ; Wills

PURPOSE: Febrile seizures are common in children between the ages of 6 months and 5 years of age and are often caused by viral illnesses. Influenza infection presents with a variety of neurological conditions including seizures. This study was aimed to evaluate the correlation of influenza infection and febrile seizures. METHODS: Eighty-four children with febrile seizures were involved in the study from October 2013 to March 2014. They were divided into two groups (febrile seizures with influenza infection, febrile seizures without influenza infection). Their medical records including clinical characteristics such as seizure types, seizure frequency, seizure duration, developmental history, brain magnetic resonance imaging(MRI), cerebrospinal fluid(CSF) study and electroencephalogram(EEG) findings were reviewed. RESULTS: Twenty six out of 242 children between the ages of 6 months and 5 years diagnosed with influenza infection had febrile seizures (10.7%), which is higher than known prevalence of febrile seizures. There were no significant differences in clinical characteristics such as seizure types, seizure frequency, seizure duration, developmental history, brain MRI, CSF study and EEG findings between the two groups. However, onset age of febrile seizures with influenza infection was older than the other group without influenza infection(P<0.001). CONCLUSION: It has been considered that influenza infections are common during the cold seasons and are the main causative factor for febrile seizures. Based on the findings from this study, Influenza infection may be a significant risk factor for febrile seizures. However, further studies are needed.
Age of Onset ; Brain ; Child ; Electroencephalography ; Humans ; Influenza, Human* ; Magnetic Resonance Imaging ; Medical Records ; Prevalence ; Risk Factors ; Seasons ; Seizures ; Seizures, Febrile*

PURPOSE: We performed this study to investigate the clinical features of febrile seizure (FS) and to identify prognostic factors of recurrence of FS on Jeju Island, South Korea. METHODS: A hospital-based retrospective study was performed in 307 children with FS whose first episode developed between July 2005 and June 2013 seen at the Pediatric Department of Jeju National University Hospital. RESULTS: 307 children (189 boys and 118 girls) were enrolled in this study. Based on first FS semiology, 97.1% (298/307) of cases manifested as generalized seizure and 2.9% of cases showed focal seizure. Moreover, 23.5% (72/307) of cases had complex FS as the first FS. The average age at the first FS was 18.4 months. A family history of FS or epilepsy was found in 30.6% and 5.2% of patients, respectively. Recurrence occurred in 67.6% of patients; among them, 93.7% had their first recurrence within 1 year. Multivariate analysis identified the following factors as significant predictors of recurrence of FS: early onset of FS (< or =15 months of age) and a family history of FS. CONCLUSIONS: We identified the following risk factors for recurrence of FS: early onset of FS (< or =15 months of age) and a family history of FS.
Child ; Epilepsy ; Humans ; Korea ; Multivariate Analysis ; Recurrence ; Retrospective Studies ; Risk Factors ; Seizures ; Seizures, Febrile*

PURPOSE: Floppy infant, or congenital hypotonia, is caused by various diseases, such as genomic disorders, diseases involving the central or peripheral nervous system, musculoskeletal diseases, and metabolic disorders. We describe here the clinical aspects and the final diagnosis of infants with hypotonia recently diagnosed in a single, tertiary-care hospital in Korea. METHODS: All of the infants evaluated for generalized hypotonia between 2008 and 2012 at Asan Medical Center Children's Hospital were included in our study. The demographic data, physical examination upon initial presentation, the diagnostic tests and results, and the final diagnosis were retrospectively reviewed. RESULTS: A total of 128 infants (68 males, 60 females) were included in the study, and the mean patient age at the time of the diagnosis of hypotonia was 4.8 months. Etiological diagnosis was possible in 80 (62.5%) of the 128 patients, and 57 (44.5%) patients were confirmed by genetic testing. Fifteen patients (11.7%) were categorized as having central nervous system disorders, and 34 (26.6%) patients were diagnosed as having other genomic disorders such as Prader-Willi syndrome (n=17). Disease involving muscle and the peripheral nervous system was detected in 16 (12.5%) patients. Five patients were diagnosed with other skeletal disorders, and metabolic disease was detected in 10 (7.8%) patients. CONCLUSION: With the recent advances in diagnostic tools, including genetic testing, many of the patients with hypotonia can be correctly diagnosed. These data can give practical clues regarding the optimal diagnostic approaches for treating floppy infants in the clinics.
Central Nervous System Diseases ; Chungcheongnam-do ; Diagnosis ; Diagnostic Tests, Routine ; Genetic Testing ; Genetics ; Humans ; Infant* ; Korea ; Male ; Metabolic Diseases ; Muscle Hypotonia ; Musculoskeletal Diseases ; Peripheral Nervous System ; Physical Examination ; Prader-Willi Syndrome ; Retrospective Studies