Headache associated with moyamoya disease (HAMD) has been reported in about 20-30% of pediatric cases with moyamoya disease. However, the characteristic patterns of HAMD during disease progression are not completely known, although much is known on the incidence of HAMD and on the treatment effects of bypass surgery. In a child who presented with HAMD and had no infarction or hemorrhage till bypass surgery, we described the characteristic patterns of headache progression. At first presentation, the patient complained of severe bilateral headache despite mild stenosis only in the left internal carotid artery on brain magnetic resonance angiography. During all stages of progression, headache was severe and pressing in nature rather than throbbing. Nausea and vomiting were present even in the early stage, but photophobia, phonophobia and neck stiffness developed in the late stage. Headache was aggravated by menstruation and was relieved by analgesics and topiramate in the early stage, although the medication failed to provide relief when the headache increased in frequency and duration.
Analgesics ; Brain ; Carotid Artery, Internal ; Child* ; Constriction, Pathologic ; Disease Progression ; Female ; Headache* ; Hemorrhage ; Humans ; Hyperacusis ; Incidence ; Infarction ; Magnetic Resonance Angiography ; Menstruation ; Moyamoya Disease* ; Nausea ; Neck ; Photophobia ; Vomiting

Ophthalmoplegia without ataxia has various etiologies. An atypical Miller Fisher syndrome implies an ophthalmoplegia without ataxia, areflexia or both. The presence of anti-GQ1b antibody supports the diagnosis of an atypical Miller Fisher syndrome. A 4-year-old Russian girl visited our hospital because of acute bilateral abducens nerve palsy and mydriasis. Although the muscle power of extremities was normal and she didn't show an ataxia, the deep tendon reflex of both knees and ankles was absent. The results of nerve conduction study and cerebrospinal fluid analysis were normal. Magnetic resonance imaging (MRI) showed an enhancement of the bilateral abducens nerve. The anti-Gq1b antibody titer was elevated. The diagnosis of atypical Miller Fisher syndrome was made and a therapy with intravenous immunoglobulins led to the clinical recovery. We report a girl with atypical Miller Fisher syndrome with acute bilateral abducens nerve palsy and mydriasis, diagnosed by of anti-GQ1b antibody positivity.
Abducens Nerve ; Abducens Nerve Diseases* ; Ankle ; Ataxia ; Cerebrospinal Fluid ; Child, Preschool ; Diagnosis ; Extremities ; Female ; Humans ; Immunoglobulins, Intravenous ; Knee ; Magnetic Resonance Imaging ; Miller Fisher Syndrome ; Mydriasis* ; Neural Conduction ; Ophthalmoplegia ; Reflex, Stretch

PURPOSE: Cytokines play important roles on the expression of various neuronal inflammatory disease and insults. The purpose of this study was to evaluate the levels of interleukine (IL)-6, IL-8, IL-10 in cerebrospinal fluid (CSF) in children with aseptic meningitis and compare them with those of the patients having other acute neurological symptoms. METHODS: We retrospectively reviewed the medical records of the children who admitted in the pediatric department of Hanyang University Guri Hospital for acute neurological symptoms and had CSF examinations from September 2012 to July 2013. We classified them into six groups as acute encephalopathy, epilepsy, febrile convulsion, headache, infantile fever, and meningitis. We analyzed the clinical and laboratory data from them. RESULTS: A total of 87 CSFs of the patients were available. The levels of CSF IL-6, IL-8, and IL-10 were significantly increased in the group with aseptic meningitis group as compared to the other groups (P<0.05). CSF IL-6 (r=0.576, P=0.000), IL-8 (r=0.329, P=0.003), and IL-10 (r=0.523, P=0.000) were all significantly correlated with CSF White bood cell (WBC) count. Among the patients with aseptic meningitis, CSF enterovirus positive patients (CSF entero+) showed significantly increased IL-6, IL-8, IL-10 levels than CSF enterovirus negative patients (CSF entero-) (P<0.05). In addition, the CSF entero+ and the increase of IL-10 were significantly correlated (x2=6.827, P=0.033). CONCLUSION: In patients with aseptic meningitis, the CSF IL-6, IL-8 and IL-10 were more expressed than in other neurological disease group. Among them, the enteroviral meningitis may be more related with IL-6, IL-8 and IL-10 expression than in other causes of aseptic meningitis.
Cerebrospinal Fluid* ; Child* ; Cytokines ; Enterovirus ; Epilepsy ; Fever ; Headache ; Humans ; Interleukin-10 ; Interleukin-6 ; Interleukin-8 ; Interleukins ; Medical Records ; Meningitis ; Meningitis, Aseptic* ; Neurons ; Retrospective Studies ; Seizures, Febrile

PURPOSE: The benefit of electroencephalography after sleep deprivation (SDEEG) in the diagnosis of epilepsy is controversial, and it is difficult to apply SDEEG to all pediatric patients in the clinical setting. This study is to figure out the usefulness of SDEEG for the detection of epileptiform discharges (EDs). METHODS: Medical records were reviewed retrospectively. Routine electroencephalography (REEG) was performed in 150 patients, and SDEEG was taken in 69 patients among the study population(n=219). The detection rates of EDs were compared between two groups, and also compared according to the presence of sleep in each group. RESULTS: The detection rate of EDs was higher in SDEEG group than in REEG group [n=69 (59.4%) vs n=150 (43.3%), P=0.03). Whereas there was no significant differences of the detection rate of EDs between REEG with and without sleep recording groups (43.8% vs 38.5%, P=0.777), there was significantly higher detection rate of EDs in SDEEG with sleep than SDEEG without sleep recording groups [n=63 (61.9%) vs n=6 (33.3%), P=0.022]. The detection rate of EDs was not significantly different between each group with and without sleep recording in overall EEGs (49.5% vs 36.8%, P=0.342). However, in overall EEGs with sleep recording, the detection rate of EDs was statistically significantly higher in SDEEG group than REEG group [n=63 (61.9%) vs n=137 (43.8%), P=0.022]. CONCLUSION: SDEEG revealed higher detection rate of EDs than REEG. It is not because of the effect of sleep recording, but of sleep deprivation itself. SDEEG is useful tool to apply for the diagnosis of epilepsy in daily clinical practice in children.
Child* ; Diagnosis* ; Electroencephalography* ; Epilepsy* ; Humans ; Medical Records ; Retrospective Studies ; Sleep Deprivation*

Infarction is an uncommon occurrence in healthy young patients. Despite the lower mortality rate of infarction in the pediatric patients, there is a high social impact of the disease. Recent years are represented by the increased attention that is placed on detecting risk factors of infarction. Patent foramen ovale (PFO) is attributable to the important risk factor that has been associated with cerebral infarction of unknown etiology or cryptogenic infarction. Since the treatment to prevent recurrence in infarction is percutaneous closure with permanently implanted closure devices. We present a case of fifteen-year-old male who admitted to hospital after he had paresthesia and hemiparesis. His physical, cardiologic and neurologic examinations were normal, except for the left hemiparesis and left finger paresthesia. On admission, magnetic resonance imaging and magnetic resonance imaging spectroscopy revealed multifocal hyperintense lesions consistent with acute ischemic events. Further evaluation with an aim to define the cause of infarction revealed a PFO with right-to-left shunt. He was underwent closure of the PFO using the Amplatzer occluder(R). Since one year after procedure, the patient has been visiting the out-patient department without recurrence of neurologic or cardiologic events.
Cerebral Infarction* ; Fingers ; Foramen Ovale, Patent* ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male* ; Mortality ; Neurologic Examination ; Outpatients ; Paresis ; Paresthesia ; Recurrence ; Risk Factors ; Social Change ; Spectrum Analysis

Enterovirus infection is often aggravated and manifests as various neurological complications such as aseptic meningitis, brainstem encephalitis, poliomyelitis-like acute flaccid paralysis, transverse myelitis, and severe systemic diseases. There are a few reports indicating that enterovirus is associated with acute disseminated encephalomyelitis (ADEM), acute flaccid paralysis, or Guillain-Barre syndrome separately. However, none of these report ADEM and acute flaccid paralysis occurring simultaneously. Here, we present a case of combined ADEM and acute flaccid paralysis associated with enteroviral infection in a child and reviewed the relevant literature. A 5-year-old boy was admitted to the hospital for headache and vomiting with evident meningeal irritation signs. Despite of antibiotic therapy, his mental state rapidly declined to coma with abnormal upper motor neuron (UMN) signs. During 5 consecutive days of steroid pulse therapy, his abnormal UMN signs abruptly changed to flaccid paralysis. Suspected acute flaccid paralysis due to enterovirus prompted the addition of intravenous immunoglobulin (IVIG). On hospital day 33, he was discharged with full recovery of muscle tone and strength with an alert mental state.
Attention Deficit Disorder with Hyperactivity ; Brain Stem ; Child ; Child, Preschool ; Coma ; Encephalitis ; Encephalomyelitis ; Encephalomyelitis, Acute Disseminated* ; Enterovirus ; Enterovirus Infections ; Guillain-Barre Syndrome ; Headache ; Humans ; Immunoglobulins ; Male ; Meningitis, Aseptic ; Motor Neurons ; Muscle Hypotonia ; Muscles ; Myelitis, Transverse ; Paralysis* ; Vomiting

Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes are Apert, Pfeiffer and Crouzon. Apert syndrome is one of the severe type of craniosynostosis syndromes which shows mutations in the Fibroblast growth factor receptor 2 (FGFR2) gene. Pfeiffer syndrome is also related with FGFR 1 or 2 gene mutation. We experienced two patients with craniosynostosis syndromes, Apert syndrome and Pfeiffer syndrome. The first baby was a in-born female baby presented with syndactly of the hands and feet and facial dysmorphism including shallow orbit with deep crease above eye brow. Apert syndrome was confirmed by the presence of a mutation in FGFR2. The second patient visited our developmental delay clinic due to developmental delay at seven month old age. He showed facial dysmorphism including cloverleaf-shaped skull, micrognathia, low set ears, low nasal bridge and high-arched palate, but there were no syndactly or limb anomalies. He was suspected of Pfeiffer syndrome, however his FGFR2 gene study was normal. These patients need multidisciplinary team management and regular follow up for visual, auditory, and cognitive development functions Pediatricians have important role on recognizing the patients with facial dysmorphism, planning to evaluate accompanying anomalies and making appropriate decisions about the timing of surgical management to minimize growth and cognitive impairments.
Acrocephalosyndactylia ; Craniosynostoses ; Ear ; Extremities ; Female ; Fetal Development ; Follow-Up Studies ; Foot ; Hand ; Humans ; Orbit ; Palate ; Receptor, Fibroblast Growth Factor, Type 2 ; Receptors, Fibroblast Growth Factor ; Skull

Subependymal giant cell astrocytoma (SEGA) is the most common brain tumor that develops in 5-20% of patients with tuberous sclerosis complex. Although these lesions are slowly growing tumor, they can cause morbidity and mortality due to acute hydrocephalus because of their prevalent location near the foramen of Monro. Surgery has been the standard care for SEGAs demonstrating serial growth and symptomatic hydrocephalus. However, not all SEGAs are treatable by complete surgical resection. Gamma Knife stereotactic radiosurgery can be considered as a second option, but it has shown highly variable responses in patients with limited data. In recent years, drugs with novel mechanism, sirolimus and other mammalian target of rapamycin (mTOR) inhibitors have been found to reduce the size of SEGAs. We report a case of treatment of SEGA with gamma knife surgery which continued for two years without progression, even though surgical resection was done, finally.
Astrocytoma* ; Brain Neoplasms ; Cerebral Ventricles ; Humans ; Hydrocephalus ; Mortality ; Radiosurgery ; Sirolimus ; Tuberous Sclerosis*

Obstructive sleep apnea syndrome (OSAS) is a disorder of breathing during sleep characterized by prolonged partial upper airway obstruction or intermittent complete obstruction that disrupts normal ventilation during sleep and normal sleep patterns. Untreated OSAS can cause various problems such as cognitive deficit, attention deficit hyperactivity disorder, hypertension, cardiovascular disease, failure to thrive and mood disorder. Therefore, early diagnosis and proper management is very important. The gold standard of diagnosis of OSAS is overnight polysomnography. Treatment includes the use of continuous positive airway pressure (CPAP) and weight loss in obese children. Here, we present an obese 15-year-old boy presented with obstructive sleep apnea and attention deficit. He was diagnosed with OSAS by polysomnography and was successfully treated with CPAP.
Adolescent ; Airway Obstruction ; Attention Deficit Disorder with Hyperactivity ; Cardiovascular Diseases ; Child ; Continuous Positive Airway Pressure* ; Diagnosis ; Early Diagnosis ; Failure to Thrive ; Humans ; Hypertension ; Male ; Mood Disorders ; Obesity ; Polysomnography ; Respiration ; Sleep Apnea, Obstructive* ; Ventilation ; Weight Loss

Ophthalmoplegic migraine (OM) is a poorly understood neurological syndrome characterized by recurrent headaches with paresis of the ocular cranial nerves. The third cranial nerve is most commonly affected; the fourth and sixth nerve less so. The etiology, pathophysiology, and definitive treatment of OM remain unclear. We here report a 12-year-old girl who presented with recurrent OM attacks. This adolescent patient demonstrated contrast-enhanced oculomotor nerves on magnetic resonance imaging during OM episodes and marked responses to steroid treatment. The findings in our present study emphasize the difficulty of OM diagnosis, even with new International Headache Society criteria, because patients rarely fulfill all of the relevant characteristics at the same time.
Adolescent* ; Child ; Cranial Nerves ; Diagnosis ; Female ; Headache ; Humans ; Magnetic Resonance Imaging ; Migraine Disorders ; Oculomotor Nerve ; Ophthalmoplegic Migraine* ; Paresis