septo-optic dysplasia/癲癇性発作

Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and

A 21-month-old boy with septo-optic dysplasia and infantile spasms is reported. Eighteen hours after birth he had generalized convulsions, dyspnea, and hypoglycemia which were followed by recurrent clonic seizures despite administration of phenobarbital and valproic acid. At 16 months of age he had

A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and

BACKGROUND The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition,

Schizencephaly is an uncommon malformation of cortical development. Patients with schizencephaly present with a broad range of severe neurologic symptoms including pharmacoresistant epilepsy. Rufinamide is a new antiepileptic drug approved for use as adjunctive therapy of seizures associated with

The syndrome of septo-optic dysplasia with congenital hypopituitarism consists of optic nerve hypoplasia, midline malformations of the prosencephalon and hypothalamic hypopituitarism. There is great variability of these features and clinical manifestation is age-dependent: Newborns present with

BACKGROUND In the population of children and adolescents, epilepsy affects 0.5-1% of individuals; approximately 3% of general population suffer from non-epileptic seizures, while endocrine disorders are several times more frequent. All of the above factors result in a relatively common