[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].

We describe the case of a 15-year-old male with early juvenile type GM2 gangliosidosis. He first manifested with progressive clumsiness in his extremities at the age of 1.5 years, followed by motor regression.

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 months of age. She showed significant hypotonia and hepatomegaly.

Early predictors of status epilepticus-associated mortality and morbidity in children.

Background: Early predictors of status epilepticus (SE)-associated mortality and morbidity have not been systematically studied in children, considerably impeding the identification of patients at risk.

Objectives: To determine reliable early predictors of SE-associated mortality and morbidity and identify the etiology of SE-associated sequelae in Japanese children.

Methods: We conducted a prospective multicenter study of clinical findings and initial laboratory data acquired at SE onset, and assessed outcomes at the last follow-up examination.

[Neurological sequelae of acute encephalopathy with febrile convulsive status epilepticus].

Objective: The clinical characteristics of neurological sequelae in patients with acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) was elucidated.

Methods: We retrospectively reviewed 8 patients, which were admitted to our hospital from 2002 to 2011.

Results: In the subacute phase, transient neurological symptoms, such as dystonia (n = 3), choreoathetosis (n = 2), oral tendency (n = 5) and unilateral spatial neglect (n = 6), appeared from 3 weeks after onset.

Immunohistochemical expression of fibroblast growth factor-2 in developing human cerebrum and epilepsy-associated malformations of cortical development.

To elucidate the biological significance of fibroblast growth factor-2 (FGF-2) expression in epilepsy-associated malformations of cortical development, immunohistochemical expression of FGF-2 was investigated in the developing human cerebral mantles obtained from 30 autopsy cases of fetuses, stillborn infants and children ranging from 12 weeks gestation to 15 years old, and 70 surgically-resected corticectomy specimens from patients with medically intractable epilepsy, including: group I, 12 tubers of tuberous sclerosis; group II, 24 cases of focal cortical dysplasia (FCD) with balloon cells (BC); group III, 11 FCD without BC; group IV, 23 histologically normal-appearing neocortices from patients with Rasmussen encephalitis, cystic-gliotic encephalopathy, temporal lobe epilepsy; and group V, 14 normal-appearing neocortices adjacent to dysplastic lesions from groups I and II. FGF-2 expression was detected in a population of matrix cells and/or neuroblasts within the ventricular zone in fetuses younger than 19 weeks gestation. Nuclei of glioblasts and immature astrocytes were also positive for FGF-2 in cases older than 18 weeks gestation.

Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy.

We describe the early manifestation and sequential assessment of the central and peripheral nervous system in a Japanese girl with merosin-deficient congenital muscular dystrophy. She showed severe hypotonia (''floppy infant") and suffered mild respiratory failure postnatally. Serum creatine kinase was elevated to 11,487 IU/L.

Genomic copy number variations at 17p13.3 and epileptogenesis.

Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (MDS), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable seizures. Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.

Long-term weekly ACTH therapy for relapsed West syndrome.

Adrenocorticotrophic hormone (ACTH) therapy is an established treatment for West syndrome. However, some patients may relapse after this therapy, for whom there is no established treatment. We describe 3 patients with symptomatic West syndrome and multiple, poor prognostic factors who relapsed after initial ACTH therapy.

Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs).

To elucidate the biological significance of dysplastic cells in malformations of cortical development, an immunohistochemical study was performed to investigate fibroblast growth factor-2 (FGF-2) expression in corticectomy specimens from epilepsy patients, including focal cortical dysplasia (FCD) with balloon cells (BCs) (n=4; age/sex=2M, 14F, 24M, 45M), tubers of tuberous sclerosis complex (TSC-tubers) (n=2; 1F, 3F), FCD without BCs (n=3; 23F, 23M, 25M), and gliotic lesions (n=3; 12M, 25M, 29M). The nucleus and/or cytoplasm of astrocytes in all cases examined were positive for FGF-2; however, FGF-2 immunoreactivity was not detected in oligodendroglial cells. In all dysplastic lesions, FGF-2 was detected in the astrocytic nuclei, and cytoplasm and/or nuclei of BCs.

Spontaneous remission of infantile spasms and hypsarrhythmia following acute infection with high-grade fever.

To elucidate the pathogenesis of spontaneous remission of infantile spasms (ISs) and hypsarrhythmia following infection, we reviewed 58 patients with ISs from 1986 through 2006 in our hospital. Five patients showed spontaneous remission of spasms or hypsarrhythmia following infections with high-grade fever (SR group). In control, we analyzed five patients with complete improvement of ISs for ACTH therapy (ACTH group).

Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning.

Here, we report the case of a five-year-old boy with carbonic monoxide (CO) poisoning. The patient initially recovered after the initiation of hyperbaric oxygen (HBO) therapy, but lethargy as well as visual and gait disturbances appeared two days later. Left hemiparesis and mood lability also subsequently appeared.

[Polycystic ovary syndrome and hepatocellular adenoma related to long-term use of sodium valproate in a young woman].

Previous studies have reported a high prevalence of polycystic ovary syndrome (PCOS) among women taking sodium valproate (VPA). We report the case of a 28 year-old epileptic female taking VPA, who developed PCOS and later hepatocellular adenoma. She had been taking VPA for intractable epilepsy since the age of 15 months.

[Epilepsy in patients with cerebral palsy--analysis of frequency and clinical prognosis].

This study was designed to investigate the incidence and prognosis of epilepsy in 109 patients with cerebral palsy and to attempt to correlate these clinical data with the type of palsy. The incidence of epilepsy, the onset of age and the type of first seizure were associated with the regions affected by palsy. A good association exists between tetraplegia and age-dependent epileptic encephalopathy.