ABSTRACT
We investigated seizures in 22 children with congenital adrenal hyperplasia (CAH), eight of whom had seizures associated with fever. The follow-up period was 5-18 years. The onset of seizures ranged from 1 to 4 years of age, and the total number of seizures was one to three in all cases. Four cases had seizures twice within 24 hours. None had seizures after 5 years of age. In two of the eight cases, the seizures may have caused by hypoglycemia or hyponatremia, in the remaining six they were considered to be febrile seizures. Three of them had first-degree relatives with febrile seizures. Electroencephalogram was recorded in five cases, with normal results in all of them. One case with febrile status developed localization-related epilepsy later. None showed developmental delay during follow-up. Although seizures in CAH have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between CAH and febrile seizures on the chromosome 6.
Subject(s)
Adrenal Hyperplasia, Congenital/complications , Seizures, Febrile/etiology , Child , Child, Preschool , Corticotropin-Releasing Hormone/blood , Cytochrome P-450 Enzyme System/genetics , Female , Humans , Infant , Male , Seizures, Febrile/genetics , Steroid 21-HydroxylaseABSTRACT
A 2-month-old girl with a huge cervicofacial hemangioma complicated by Kasabach-Merritt syndrome was presented. Two weeks corticosteroid treatment was ineffective, and deterioration of coagulation parameters and compromise of the airway and left vision due to huge hemangioma prompted use of endovascular treatment. Transfemoral arterial embolization using polyvinyl alcohol particles resulted in rapid clinical improvement. Endovascular treatment should be considered as an important therapeutic option for hemangioma complicated by Kasabach-Merritt syndrome.
Subject(s)
Anemia, Hemolytic/complications , Embolization, Therapeutic/methods , Facial Neoplasms/complications , Facial Neoplasms/therapy , Hemangioma, Capillary/complications , Hemangioma, Capillary/therapy , Spinal Neoplasms/complications , Spinal Neoplasms/therapy , Thrombocytopenia/complications , Thrombocytopenia/therapy , Cerebral Angiography , Facial Neoplasms/diagnosis , Female , Hemangioma, Capillary/diagnosis , Humans , Infant , Magnetic Resonance Imaging , Spinal Neoplasms/diagnosis , Syndrome , Thrombocytopenia/diagnosis , Treatment OutcomeSubject(s)
Dermatitis, Atopic/complications , Fatty Liver/diagnostic imaging , Fatty Liver/etiology , Hepatomegaly/etiology , Adolescent , Case-Control Studies , Child , Child, Preschool , Dermatitis, Atopic/physiopathology , Dermatitis, Atopic/therapy , Developmental Disabilities/etiology , Fatty Liver/pathology , Humans , Infant , Infant, Newborn , Male , UltrasonographyABSTRACT
We report a patient with Prader-Willi syndrome (PWS) complicated by diabetes mellitus. PWS is a genetic disorder characterized by obesity, mental retardation and hypogonadism. Glucose intolerance in this syndrome is thought to be secondary to insulin resistance associated with morbid obesity. Therapy was directed primarily at decreasing insulin resistance and thereby improving glucose intolerance by the administration of troglitazone, which increases insulin sensitivity. Changes in glucose disposal rate assessed by euglycemic hyperinsulinemic clamp test were measured, as well as glucose and insulin responses to a 75 g-OGTT before and after troglitazone therapy. Glucose disposal rate increased by 36% and plasma glucose responses to 75 g-OGTT decreased by about 50% during 12 weeks of troglitazone therapy despite slight weight gain. Thus, troglitazone has beneficial effects on glycemic control by improving insulin sensitivity in patients with PWS complicated by diabetes mellitus.
