Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nineteen patients with severely handicapped children were divided into 3 groups; tube-fed patients (group 1, n = 8), oral-fed patients with dysphagia (group 2, n = 3) and oral-fed patients (group 3, n = 8). Clinical symptoms, past history, cranial CT, EEG, blink reflex and auditory brainstem response were evaluated in these patients. All patients of group 1 and 2 could not control head or sit by themselves. They needed naso-oral suction. However, nasal airway, intubation and tracheostomy were necessary only in group 1 patients. Five out of 8 patients of group 3 could control head and sit by themselves. No one needed naso-oral suction. CT revealed ventricular dilatation or prominent destructive lesions in group 1. However, patients of group 2 and 3 showed the lesions of mild to moderate degree. EEGs showed poorly developed background activities or electrical status epilepticus in group 1, while they showed relatively well-developed background activities with less prominent paroxysmal discharges in group 2 and 3. R2 component of blink reflex was absent bilaterally in 90% patients of group 1 and 2, while unilateral R2 at least was present in group 3. Feeding problems in severely handicapped children were affected by combination of cerebrum and brainstem involvements. Examination of cranial CT, EEG and blink reflex was useful to determine the method of feeding.
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PMID:[Feeding problems in severely handicapped children]. 138 24

Three patients with severe motor and intellectual disabilities presented deterioration of the activities of daily living, which was revealed to be caused by prolonged non-convulsive status epilepticus (NCSE). Their condition improved by the treatment with antiepileptics. Case 1, a 4-year-old girl with profound psychomotor retardation and past history of West syndrome of unknown etiology, became unable to sit and eat orally above age of two years. EEG showed continuous generalized slow spike and wave bursts indicating NCSE. Continuous intravenous infusion of midazolam abolished EEG abnormalities of NCSE, and she regained the ability of oral feeding. Case 2, a 3-year-old boy with Angelman syndrome and past history of West syndrome, presented decreased mental response, poor oral intake and somnolence. EEG showed continuous slow spike and wave bursts, indicating NCSE. High-dose phenobarbital therapy and continuous intravenous injection of vitamin B6 were effective, and remarkably improved his psychomotor activities. Case 3, a 3-year-old boy with Lennox-Gastaut syndrome, developed decreased psychomotor activity and loss of vocalization and walking. He could not sit by himself and became nearly bed-ridden. EEG showed very frequent generalized spike and wave bursts, showing NCSE. Continuous infusion of thiopental diminished NCSE, and he could walk again. Psychomotor deterioration in patients with severe motor and intellectual disabilities may be caused by NCSE, which should not be overlooked.
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PMID:[Three cases with severe motor and intellectual disabilities presenting the severest condition caused by prolonged non-convulsive status epilepticus]. 1260 90

Objective Approximately 5-10% of preschool age children are considered developmentally disabled. Brain Magnetic Resonance Imaging (MRI) plays a key role in the diagnostic evaluation in these children. Many congenital or acquired brain anomalies are revealed with MRIs. Although the majority of these abnormalities are sporadic but patients with subcortical band heterotopia or double cortex syndrome have sex-linked inheritance. We are going to present the first case in Iran from Ahvaz city, which was presented with status epilepticus associated with developmental delay and finally diagnosed as double cortex syndrome, because band heterotopia cases especially for continuous or generalized form is rare. A 4.5-year-old developmentally delayed girl was admitted for generalized tonic clonic seizure attack of 1 hr, upward gaze, locked mouth, and urinary incontinence (status epilepticus) in the child neurology ward. She had a history of recurrent seizures that started as febrile seizures since she was 12 months of age and had frequent admissions for having recurrent seizure attacks. She was the only child of consanguineous parents with negative family history of any neurologic problems. She was a product of uneventful term pregnancy, vaginal delivery with a low Apgar score at birth who was admitted for six days in the neonatal ward for hypotonia and cyanosis. At 4.5 years of age, she had HC: 45cm (<3%) Length: 102 cm (25-75%), and BW: 18kg (75%). She was able to sit, walk with support, speak a few words, and communicate with others. A physical exam was unremarkable. Lab data including CBC, blood biochemical, and urinalysis results were all within normal limits, but the electroencephalography (EEG) revealed generalized poly spike-wave discharges. A brain MRI showed corpus callosal dysplasia, generalized band heterotopia, and polymicrogyria. She was discharged home with oral valproate and regular outpatient follow-ups. In the diagnostic evaluation of developmentally delayed and epileptic children, a brain MRI is strongly recommended for accurate diagnosis of anomalies such as neuronal migration disorders (band heterotopia) and others, because appropriate therapeutic management, prognosis, prevention, and genetic counseling for prenatal diagnosis are dependent on definite diagnosis of the proband case.
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PMID:Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. 2622 Nov 67