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A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Kyung Mi JANG ; Myung Chul HYUN ; Su Kyeong HWANG

Journal of the Korean Child Neurology Society.2017;25(3):204-207. doi:10.26815/jkcns.2017.25.3.204

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or misdiagnosed due to insidious symptoms and incomplete biochemical findings, in that case, genetic testing should be considered to confirm the diagnosis. HHH syndrome is caused by biallelic mutations of SLC25A15, which is involved in the urea cycle and the ornithine transport into mitochondria. Here we report a boy with spastic paraplegia and asymptomatic younger sister who have compound heterozygous mutations of c.535C>T (p.R179*) and c.116C>A (p.T39K) in the SLC25A15 gene. We identified that p.T39K mutation is a novel pathogenic mutation causing HHH syndrome and that p.R179*, which is prevalent in Japanese and Middle Eastern heritage, is also found in the Korean population.
Asian Continental Ancestry Group ; Brain Diseases ; Diagnosis ; Genetic Testing ; Genetics ; Humans ; Learning Disorders ; Male ; Mitochondria ; Ornithine ; Paraplegia ; Siblings ; Urea ; Urea Cycle Disorders, Inborn

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A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report.

Min woo HUR ; Ara KO ; Hyun Joo LEE ; Jin Sung LEE ; Hoon Chul KANG

Journal of the Korean Child Neurology Society.2017;25(3):200-203. doi:10.26815/jkcns.2017.25.3.200

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.
Amino Acid Transport System X-AG ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Efferent Pathways ; Exome ; Glutamic Acid ; Humans ; Magnetic Resonance Imaging ; Male ; Neurodegenerative Diseases ; Purkinje Cells ; Spectrin ; Spinocerebellar Ataxias*

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A Novel c.826G>A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin.

Eun Kyung SHIN ; Byung Han PARK ; Jin Hwa MOON ; Ja Hye KIM ; Han Wook YOO ; Gu Hwan KIM

Journal of the Korean Child Neurology Society.2017;25(3):195-199. doi:10.26815/jkcns.2017.25.3.195

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and most of them show the delayed or hypomyelination on brain magnetic resonance images. Typically, Triiodothyronine (T3) levels are markedly elevated, thyroid stimulating hormone (TSH) levels are normal or elevated, and free thyroxine (T4) levels are normal or decreased. In AHDS patients, early neurological manifestations are easily mistaken as cerebral palsy with unknown origin. Here, we present a novel c.826G>A mutation in a boy with severe axial hypotonia, limb dystonia and developmental delay. Thyroid function test including TSH, T3, and free T4 levels was the important clue for the diagnosis of AHDS of the patient.
Brain ; Cerebral Palsy ; Diagnosis ; Dystonia ; Humans ; Intellectual Disability ; Male* ; Movement Disorders ; Muscle Hypotonia ; Neurologic Manifestations ; Quadriplegia ; Thyroid Function Tests* ; Thyroid Gland* ; Thyrotropin ; Thyroxine ; Triiodothyronine

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A Child with Guillain-Barré Syndrome Presenting Paralytic Ileus.

So Hee LEE ; Kye Hyang LEE

Journal of the Korean Child Neurology Society.2017;25(3):191-194. doi:10.26815/jkcns.2017.25.3.191

Guillain-Barré syndrome (GBS) is characterized by ascending symmetric paralysis, paresthesia, and autonomic dysfunction. Autonomic dysfunctions develop in two-thirds of the patients, and urinary retention and paralytic ileus usually develop in severe and advanced cases. There has been no pediatric case with paralytic ileus as a presenting symptom of GBS. Reported herein is a case of GBS presenting vomiting as an initial symptom. A 28-month-old girl was brought to the emergency room due to a 2-day history of vomiting. She vomited multiple times 1 day before the visit, and had only single voiding on admission day. Her abdomen was distended, with decreased bowel sound. Intravenous fluid was given under the diagnosis with acute gastroenteritis with dehydration. The abdominal computed tomography revealed severe paralytic ileus and urinary bladder distention. After having two seizures, she developed respiratory failure necessitating ventilator care. On day 8 after admission, motor weakness with areflexia was noticed. The cerebrospinal fluid analysis showed elevated proteins (80 mg/dL) with no white blood cells (0/mm³). The nerve conduction study showed axonal-type peripheral polyneuropathy. GBS was diagnosed. During the follow-up, the patient was found to have motor weakness in the lower extremities. Paralytic ileus with protracted vomiting can be an initial presentation of GBS in children. Autonomic dysfunction with GBS can be considered in a differential diagnosis in vomiting patients with unclear etiologies.
Abdomen ; Cerebrospinal Fluid ; Child* ; Child, Preschool ; Dehydration ; Diagnosis ; Diagnosis, Differential ; Emergency Service, Hospital ; Female ; Follow-Up Studies ; Gastroenteritis ; Guillain-Barre Syndrome* ; Humans ; Ileus ; Intestinal Pseudo-Obstruction* ; Leukocytes ; Lower Extremity ; Neural Conduction ; Paralysis ; Paresthesia ; Polyneuropathies ; Respiratory Insufficiency ; Seizures ; Urinary Bladder ; Urinary Retention ; Ventilators, Mechanical ; Vomiting

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Idiopathic Cervicosyringomyelia in 2 year-old Boy.

Young Hoon CHO ; Hunmin KIM ; Byung Chan LIM ; Hee HWANG ; Jong Hee CHAE ; Ki Joong KIM ; Ji Eun CHOI ; Su mi SHIN

Journal of the Korean Child Neurology Society.2017;25(3):187-190. doi:10.26815/jkcns.2017.25.3.187

Syringomyelia is a disorder in which a cavity has formed within the spinal cord. Idiopathic syringomyelia is not associated with identifiable causes such as Chari type 1 malformation, spinal cord tumor, vascular malformation, tethered cord, arachnoiditis, hydrocephalus, or previous spinal surgery. The main neurologic symptoms of idiopathic syringomyelia are toe-walking, constipation, incontinence, abnormal reflexes, and lower extremity weakness. Patients may present with various symptoms such as scoliosis, cutaneous markers, pain in the lower extremities or back, or may be asymptomatic. Herein, we report a young child with idiopathic syringomyelia presenting with subtle neck pain. A 23-month-old boy visited the neurologic clinic after 3 months of right occipital area neck pain. He had no history of trauma or central nervous system infection, and neurologic examination results were normal except for right posterior neck hyperesthesia. Brain and spinal magnetic resonance imaging showed an ovoid intramedullary cystic lesion (9.7×5.0×4.7 mm) at C6/7 of the spinal cord. There was no evidence of Chiari malformation or other lesions that can be primary pathologies of syringomyelia. Electromyogram/nerve conduction velocity results were normal. The subject was diagnosed as idiopathic syringomyelia. His symptoms and neurologic/radiologic indications showed no change at a 1-year follow-up. Idiopathic syringomyelia symptoms are varied and may be overlooked by physicians. Pediatricians may consider syringomyelia if patients complain about persistent sensory abnormality. All patients who present with syringomyelia should undergo detailed neuroimaging of the entire neuraxis to elucidate the proximate cause of the lesion.
Arachnoid ; Arachnoiditis ; Brain ; Central Nervous System Infections ; Child ; Constipation ; Follow-Up Studies ; Humans ; Hydrocephalus ; Hyperesthesia ; Infant ; Lower Extremity ; Magnetic Resonance Imaging ; Male* ; Neck ; Neck Pain ; Neuroimaging ; Neurologic Examination ; Neurologic Manifestations ; Pathology ; Reflex, Abnormal ; Scoliosis ; Spinal Cord ; Spinal Cord Neoplasms ; Syringomyelia ; Vascular Malformations

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Acute Cerebellitis Causing Life-threatening Brain Stem Compression and Acute Hydrocephalus: A Fatal Case Report.

Jae Hee SEOL ; JunBum PARK ; Kyung Yeon LEE

Journal of the Korean Child Neurology Society.2017;25(3):183-186. doi:10.26815/jkcns.2017.25.3.183

Acute cerebellitis is a rare inflammatory disorder that occurs most frequently in children. The typical clinical course of acute cerebellitis is benign. However, in some cases of acute cerebellitis, fulminant cerebellar swelling with obliteration of the fourth ventricle causes brain stem compression and acute obstructive hydrocephalus, which can be life-threatening and require emergent neurosurgical procedures. We describe the case of a 4-year-old girl whose acute cerebellitis caused brain stem compression, acute obstructive hydrocephalus, and death. The patient was admitted to the emergency department because of a severe headache that had persisted for 5 days. Neurological examinations revealed no specific abnormality. Brain magnetic resonance imaging (MRI) demonstrated diffuse swelling and high signal intensity lesions in the cerebellar hemispheres and vermis, obliteration of the fourth ventricle, and brain stem compression on T2-weighted images in conjunction with mild hydrocephalus. Cerebrospinal fluid (CSF) analysis revealed white blood cell and red blood cell counts of 180/mm³ and 0/mm³, respectively; protein and glucose concentrations of 263.6 mg/dL and 37 mg/dL, respectively; and negative culture results. Despite aggressive treatment, the patient developed sudden cardiorespiratory arrest on day 2. Although emergency neurosurgery was performed after cardiopulmonary resuscitation, her condition progressed to brain death, and she died on day 29. This case suggests that timely and appropriate neurosurgery should be actively considered to relieve increased intracranial pressure in the early phases of acute cerebellitis.
Brain Death ; Brain Stem* ; Brain* ; Cardiopulmonary Resuscitation ; Cerebrospinal Fluid ; Child ; Child, Preschool ; Emergencies ; Emergency Service, Hospital ; Erythrocyte Count ; Female ; Fourth Ventricle ; Glucose ; Headache ; Humans ; Hydrocephalus* ; Intracranial Hypertension ; Intracranial Pressure ; Leukocytes ; Magnetic Resonance Imaging ; Neurologic Examination ; Neurosurgery ; Neurosurgical Procedures

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Norovirus Associated Cerebellitis in a Previous Healthy 2-year-old Girl.

Lindsey Yoo Jin CHUNG ; Kwang Chul LEE ; Gun Ha KIM ; So Hee EUN ; Baik Lin EUN ; Jung Hye BYEON

Journal of the Korean Child Neurology Society.2017;25(3):179-182. doi:10.26815/jkcns.2017.25.3.179

Norovirus causes acute gastroenteritis, occasional afebrile seizures, and rarely encephalitis. We describe a child with cerebellitis due to norovirus that has not been reported previously. A previously healthy 2-year-old girl with a recent history of acute gastroenteritis, who presented with acute cerebellar ataxia. She exhibited marked truncal ataxia, was barely able to walk, and was prone to sitting or lying down. Multiplex PCR using stool samples revealed norovirus (genogroup II) and magnetic resonance imaging showed increased T2 signal in the hemi-cerebellum. Norovirus may be a potential pathogenic cause of acute cerebellitis in children.
Ataxia ; Cerebellar Ataxia ; Child ; Child, Preschool* ; Deception ; Encephalitis ; Female* ; Gastroenteritis ; Humans ; Magnetic Resonance Imaging ; Multiplex Polymerase Chain Reaction ; Norovirus* ; Seizures

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Posterior Reversible Encephalopathy Syndrome Accompanied by a Cerebral Hemorrhage and Restricted Diffusion in a Child with Uncontrolled Nephrotic Syndrome.

Seung Mi JUNG ; Seong Eun CHOI ; Hye Jeong KIM ; Yo Han AHN ; Kon Hee LEE

Journal of the Korean Child Neurology Society.2017;25(3):174-178. doi:10.26815/jkcns.2017.25.3.174

Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-radiological syndrome that is characterized by an acute onset of headache, vomiting, visual abnormalities, confusion, and/or seizures and is typically accompanied with edema of predominantly posterior portions of the cerebral hemispheres. Here, we report a case of PRES with cerebral hemorrhage that occurred in a female pediatric patient with uncontrolled nephrotic syndrome. The patient's magnetic resonance imaging (MRI) studies showed asymmetric white matter abnormalities, cerebral hemorrhage, and restricted diffusion. After controlling her hypertension and nephrotic syndrome, her neurologic symptoms improved, and follow-up MRI findings revealed interval resolving of the white matter lesions.
Cerebral Hemorrhage* ; Cerebrum ; Child* ; Diffusion Magnetic Resonance Imaging ; Diffusion* ; Edema ; Female ; Follow-Up Studies ; Headache ; Humans ; Hypertension ; Magnetic Resonance Imaging ; Nephrotic Syndrome* ; Neurologic Manifestations ; Posterior Leukoencephalopathy Syndrome* ; Seizures ; Vomiting ; White Matter

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Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation.

Nalee JEE ; Ara KO ; Se Hee KIM ; Joon Soo LEE ; Heung Dong KIM ; Seung Tae LEE ; Jong Rak CHOI ; Hoon Chul KANG

Journal of the Korean Child Neurology Society.2017;25(3):169-173. doi:10.26815/jkcns.2017.25.3.169

Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety of genes, with potassium sodium-activated channel subfamily T member 1 (KCNT1) being an example. Previously reported KCNT1 mutations in MFEI are gain-of-function mutations. Therefore, quinidine therapy targeted at reduction of pathologically increased KCNT1 channel-mediated potassium conductance has been proposed as a target treatment for MEFI with KCNT1 mutation. The authors report a case involving a patient with MFEI and a missense mutation in KCNT1 (c.7129G>A; p.Phe346Leu) treated with quinidine therapy. Seizure activity was poorly responsive to quinidine.
Brain Diseases ; Epilepsy* ; Humans ; Mutation, Missense ; Potassium ; Quinidine* ; Seizures*

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Clinical Characteristics of Enteroviral Meningitis without Cerebrospinal Fluid Pleocytosis in Children.

Na Ri KIM ; Jae Kyun KU ; Bo Lyun LEE

Journal of the Korean Child Neurology Society.2017;25(3):162-168. doi:10.26815/jkcns.2017.25.3.162

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

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