Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A critical review was given to the diagnostic transition of hyperactive children, i.e., from attention deficit disorder to attention deficit-hyperactivity disorder, in the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders. Based on the new diagnostic criteria for hyperactive children, or hyperkinetic disorders in ICD-10, 12 of 122 (9.8%) children with a birthweight less than 1,500 grams have found to show hyperkinetic disorders during ordinary follow-up examinations at 4 to 6 years of age. Discontinuation of stimulants during school holidays, or the "drug holidays" procedure, was recommended not only because a child's response to stimulants could be reconfirmed but also because the side effect of growth retardation could be avoided. Three typical drug responders with hyperactivity were presented. Case 1 was a 19-year-old male with some autistic features and tics. He had been taking pemoline from 10 to 13 years of age, but showed no side effects. Case 2 was a 15-year-old boy with epileptic EEG abnormalities, and had been also taking pemoline from 6 to 10. He was attacked by a partial seizure with secondary generalization just 2 months after the drug administration. Recurrence of epileptic seizures was prevented by additional medication of an anticonvalsant , carbamazepine. Case 3 was a 13-year-old boy with enuresis nocturna and with several febrile seizures, and had been taking clomipramine, a tricyclic antidepressant, from 4 to 6. The antidepressant proved very effective to his hyperactivity and temper tantrum, but not to his enuresis.
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PMID:[Diagnosis and drug treatment in hyperactive children]. 813 93

We report a case of Sturge-Weber syndrome with intractable epilepsy presenting complex partial seizures(CPSs) and severe temper tantrum successfully treated with anterior temporal lobectomy. A 23-month-old girl without facial angioma presented with seizures from 8 months after birth. Neuroradiological examination demonstrated angioma in the left temporooccipital lobes and calcification in the left occipital lobe. Thus she was diagnosed as having Sturge-Weber syndrome. Her parents sought medical advice because of intractable and more frequent CPSs and a change in temperament manifesting as severe temper tantrums. Interictal electroencephalogram (EEG) showed relatively mild abnormal slow wave discharges in the left temporal region. The patient underwent left anterior temporal lobectomy based on intraoperative electrocorticography (ECoG) findings. Histopathological examination demonstrated gliotic change in the amygdala. After the surgery, she has remained seizure-free for 14 months while taking anticonvulsants and temper tantrums ultimately showed remission 10 months following surgery. This case may indicate that severe temper tantrum was associated with a change in amygdala structures.
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PMID:[A case of Sturge-Weber syndrome with severe temper tantrum]. 1691 Apr 95

Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects. We determined the lack of speech and eye contact, stereotypical behavior, and impaired social interaction and diagnosed him with autism and severe mental retardation via a psychiatric assessment. He had been followed up by pediatricians until he was 2 years old. Pediatricians noted his long eyelids with eversion of the lateral third of the lower eyelid, depressed nasal tip, short stature, long palpebral fissures, brachydactyly, and fetal finger pads in their physical examination. The boy who has an operated ventral septal defect and seizures was diagnosed with KS when he was 5 years old. We recommended his parents to apply to a special education agency and kindergarten for him. Our case is a new example of the coexistence of KS and ASD in addition to the very few cases in the literature. Genetic analyses conducted in the existence of specific genetic syndromes, such as KS, may provide opportunities for understanding the genetic etiology of ASD and new scope in terms of novel treatment approaches.
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PMID:A Child with Kabuki Syndrome and Autism Spectrum Disorder. 2837 9