Many children with epilepsy remain medically intractable inspire of the best available therapies. One of the most difficult seizure types to treat is infantile spasms. Many children will respond to treatment with ACTH but there are may serious side effects and many children relapse when the medication is reduced or discontinued. Thus, new therapies are critically needed for this group of patients. Early evidence from European trials indicated that vigabatrin (Sabril) was effective in this population. A randomized, single blind, high-dose vs low dose vigabatrin study was performed in a multicenter USA trial. Between January 1996 and May 1997, 89 patients from 7 pediatric epilepsy centers were started in the study. An interim evaluation was performed on September 14, 1997. Of the 89 patients, data was not yet available for 16 so 73 patients were evaluable for safety. Efficacy was evaluated in 63 of the patients. Two were eliminated because they had violated the entry criteria and 8 did not yet report the efficacy information and had to be excluded from the interim report.
Adrenocorticotropic Hormone ; Child* ; Epilepsy* ; Humans ; Infant ; Infant, Newborn ; Recurrence ; Seizures ; Spasms, Infantile ; Vigabatrin*

Neonatal seizures are only a manifestation of a variety of organic, metabolic or functional disorders of the neonatal brain. Most are caused by acute brain insults such as perinatal hypoxic-ischemic encephalopathy, intracranial hemorrhage or CNS infections. Recent years have witnessed a remarkable reduction of simple hypocalcemia, resulting in a relative increase of hypoxic-ischemic encephalopathy. These acute symptomatic seizures are different from epilepsy, a chronic seizure disorder. Most previous studies concerning seizure manifestations of the newborn have dealt with all types of neonatal seizures together, regardless of etiology. It is true that seizures in the neonate pose unique diagnostic and therapeutic problems because of the immaturity of the neonatal brain, but it is not appropriate to study seizure types in the newborn on the basis of acute symptomatic seizures such as those occurring in hypoxic-ischemic encephalopathy in which acute brain swelling or neuronal necrosis may obscure the unique developmental state of the neonatal brain. No one would attempt to classify the seizure types in older children with acute encephalitis and epilepsy together. Such acute symptomatic neonatal seizures should be excluded from the classification of epileptic seizures and syndromes, although they may evolve into symptomatic epilepsy later as a sequel. The current International Classification of Epilepsies and Epileptic Syndromes lists five epileptic syndromes in which neonatal seizures are a major manifestation; benign familial neonatal convulsions(BFNC), benign neonatal convulsion(BNC), early infantile epileptic encephalopathy with suppression-burst(EIEE), early myoclonic enecphalopathy(EME), and neonatal seizures. BFNC and BNC are categorized in idiopathic generalized epilepsies according to the International Classification. BFNC are described as being associated with clonic or apneic seizures, although the ictal EEGs of these seizures have been well documented in only a small number of cases. Seizure types reported to date were partial or generalized. Three of four patients in whom we were able to record ictal EEGs displayed definite partial seizures. One diagnosed as haying generalized seizures did not show typical electroclinical features of generalized tonic-clonic convulsions.
Brain ; Brain Edema ; Child ; Classification ; Electroencephalography ; Encephalitis ; Epilepsy ; Epilepsy, Generalized ; Humans ; Hypocalcemia ; Hypoxia-Ischemia, Brain ; Infant, Newborn ; Intracranial Hemorrhages ; Necrosis ; Neurons ; Seizures*

A 4-year-old girl developed acute motor, sensory impairment, lower abdominal pain and urinary dysfunction after URI. In acute stage of disease, MRI showed diffuse spinal cord swelling and high signal intensity on T2WI below T2 body level. The patient did not improved and one month later, follow-up MRI showed diffuse spinal cord atrophy and syrinx formation as sequelae of ATM on T1WI below T9 level. To our knowledge, this is the first case showing the sequelae of acute transverse myelitis seen in Korea.
Abdominal Pain ; Atrophy* ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Korea ; Magnetic Resonance Imaging ; Myelitis, Transverse* ; Spinal Cord*

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

Joubert syndrome is a rare hereditary brain malformation and transmitted as an autosomal recessive tarit. This disorder is clinically characterized by episodic tachypnea and apnea, abnormal ocular movements, developmental delay and ataxia. Anatomic anomalies include cerebellar vermal agenesis with dilatation of the fourth ventricle. Symptomatic onset is in the neonatal period and prognosis is severe. We have experienced a case of Joubert syndrome in a 3months old male patient, who manifested by developmental delay, periodic tachypnea and apnea, abnormal eye movement, generalized hypotonia and hypoplasia of cerebellar vermis with the 4th ventricular dilatation on brain MRI. We presented this case with a brief review of literatures.
Apnea ; Ataxia ; Brain ; Dilatation ; Eye Movements ; Fourth Ventricle ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Prognosis ; Tachypnea

In two female siblings, growth and developmental retardation, poor sucking, anorexia, floppiness and respiratory difficulty developed around 2 and 4 monthes of age in each, and the respiratory symptoms rapidly aggravated to comatose states and finally into death one month later. On admission at emergency room, severe acidosis and high lactate and pyruvate levels in serum and cerebrospinal fluid were revealed in one. Brain computed tomography and magnetic resonance imaging revealed identical bilateral involvement of putamen in both of the sibs, which made the diagnosis of Leigh disease(subacute necrotizing encephalomyelopathy) possible. There is also a family history of early death in infancy period; an elder sister and a brother of mother died with unknown cause at their 5 and 10 months of age. Mitochondrial enzyme functions could not be assayed.
Acidosis ; Anorexia ; Brain ; Cerebrospinal Fluid ; Coma ; Diagnosis ; Emergency Service, Hospital ; Female ; Growth and Development ; Humans ; Lactic Acid ; Leigh Disease* ; Magnetic Resonance Imaging ; Mothers ; Putamen ; Pyruvic Acid ; Siblings

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short stature and either a focal or generalized seizure disorder. Ultimately, the patient presents with an acute hemiparesis that can alternate from side to side. In this article, we report the MELAS in siblings having point mutation in the mitochondrial DNA with an A to G transition at the 3,243rd position. MELAS is recognized as one of the several distinct syndromes containing cerebral infarct. And, mitochondrial DNA analyses, serum lactate level, and muscle biopsy are diagnostic clue of this syndrome.
Acidosis, Lactic ; Biopsy ; Child ; DNA, Mitochondrial ; Epilepsy, Generalized ; Humans ; Lactic Acid ; MELAS Syndrome* ; Mitochondrial Encephalomyopathies ; Paresis ; Point Mutation ; Siblings*

Severe myoclonic epilepsy of infancy(SMEI) is a condition beginning with recurrent, prolonged febrile convulsion in normal children, followed within months to 4 years by generalized tonic clonic seizures, partial seizures, atypical absences, myoclonic seizures and status epilepticus. The seizures are generally difficult to control. Carbamazepine which is appropriate for partial seizures, is not effective and may aggravate generalized seizures, but sodium valproate has been reported to be helpful. The evolution is always bad with persistent seizures and mental retardation. We experienced a severe myoclonic epilepsy of infancy in a 16-month-old male patient who had episodes of prolonged febrile convulsions followed by mixed type of seizures. We report a case of SMEI with a brief review of literatures.
Carbamazepine ; Child ; Epilepsies, Myoclonic* ; Humans ; Infant ; Intellectual Disability ; Male ; Seizures ; Seizures, Febrile ; Status Epilepticus ; Valproic Acid

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.
Axis, Cervical Vertebra ; Brain ; Exotropia ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.
Humans ; Infant ; Male ; Trisomy*