hypertriglyceridemia/癲癇性発作

Stroke in pediatric patients is distinctive as compare to adults. The authors report a rare case of familial hypertriglyceridemia type IV who had left hemiparesis with cerebellar signs. There was no history of oral trauma, head injury, convulsions, acute gastroenteritis, meningitis or otitis media.

We present a rare case of acute pancreatitis associated with temporal lobectomy due to intractable seizure in a 23-year-old man. The patient underwent elective right temporal lobectomy and hippocampectomy. Severe upper abdominal pain occurred just 10 hours after surgery. The diagnosis of acute

High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of blood lipids was followed by rapid, severe

Eslicarbazepine acetate (ESL, Aptiom™) is a once-daily anticonvulsant, approved as adjunctive treatment of partial-onset seizures (POS). Historical-controlled trials investigating the use of ESL as monotherapy have demonstrated a favorable efficacy and tolerability profile in patients with POS. This

BACKGROUND We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly,

More than 25 % of children with epilepsy develop refractory seizures unresponsive to both old and new generation anticonvulsants. Since such seizures have a serious negative impact on the quality of life, other treatment options are considered. The ketogenic diet is a well-known treatment for

OBJECTIVE To evaluate safety and tolerability of ketogenic diet (KGD) and valproate (VPA) cotherapy in the treatment of intractable seizures. METHODS The patient records of children who underwent KGD initiation at the Massachusetts General Hospital for Children from February 2002 to September 2004

We report a 55-year-old right-handed man with frontal lobe epilepsy manifesting recurrent speech arrest. He was known to have hypertension, hypertriglyceridemia, and gout. In the three days prior to admission, he had episodes of sudden inability to talk. These episodes lasted 10 to 30 seconds and

Hemophagocytic syndrome is characterized by increased proliferation and activation of antigen presenting cells (histiocytes) in bone marrow and other organs of the reticuloendothelial system as well as CD8+ T cells that threatens life of patients. The predominant clinical manifestations such as

Three experiments were carried out to compare plasma lipid and glucose concentrations in genetically lean (LL) and fat (FL) male chickens. The fat birds always displayed lower glycemia than the lean ones, irrespective of the diet (low-fat or fatty) and nutritional state (fed or fasted). Conversely,

Macrophage activation syndrome (MAS) is a potentially fatal complication caused by excessive activation and expansion of macrophages and T lymphocytes. It can be triggered by various infections and is characterized by the development of cytopenias, hyperferritinemia, liver dysfunction, and

BACKGROUND Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian

OBJECTIVE Simplification of antiretroviral regimen in human immunodeficiency virus (HIV)-infected children has not yet been investigated. In general, children have a more difficult time maintaining viral suppression because of many factors, including frequent nonadherence and less availability of

Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had