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)

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely.
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PMID:Status epilepticus in a child with Sanjad Sakati syndrome. 2337 47

Wernicke's encephalopathy (WE) is an acute neurological disease resulting from thiamine (vitamin B1) deficiency. WE is often caused by an unbalanced diet or excessively strict diet therapy in pediatric cases. We experienced 2 cases of WE due to excessive intake of isotonic drink. Patient 1 was a 15-month-old boy. After frequent vomiting, he presented with mental status changes, ocular abnormalities, and truncal ataxia (the classic triad). Patient 2 was a 7-month-old boy. He was hospitalized because of status epilepticus. In both cases, the clinical symptoms improved immediately after the administration of vitamin B1. However, mental retardation was observed as a neurological sequel in patient 2. Because many patients with WE present with vomiting at an early stage, we should take care not to confuse WE with gastroenterocolitis. In addition, it should be noted that some patients with WE present with seizure. Because these 2 cases resulted from an unbalanced diet, it is important to evaluate the patients' eating and drinking habits and advise their parents on proper nutrition. Since many people believe that isotonic drinks are very beneficial and consume them frequently, we should promote awareness that they can be harmful when consumed in excess.
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PMID:[Wernicke's encephalopathy due to excessive intake of isotonic drink; report of 2 cases]. 2462 Apr 29

Many studies have reported acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) associated with viral infection at onset, but few studies have reported AESD without infection. We report the case of a 9-month-old boy who had a clinical course mimicking AESD after a traffic accident. The traffic accident caused a mild subdural hematoma without neurological abnormalities on admission. The boy became unconscious on the second day, and he was diagnosed with non-convulsive status epilepticus on the third day. Diffusion-weighted imaging showed reduced water diffusion in the subcortical white matter. On laboratory analysis interleukin (IL)-6 was elevated in the cerebrospinal fluid (CSF), but not in the serum. He had severe neurological sequelae with mental retardation, spastic tetraplegia, and epilepsy. We suggest that brain damage mimicking AESD was caused by the traffic accident and the prolonged seizure during infancy.
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PMID:Traumatic head injury mimicking acute encephalopathy with biphasic seizures and late reduced diffusion. 2533 11

The authors report the clinical features, electroencephalography (EEG), neuroimaging (brain magnetic resonance image-MRI), and cytogenetic findings of a young female patient with rare cytogenetic anomalies characterized by de novo 46, XX, r (20) (p13q13.3). The patient had a history of mild mental retardation, emotional liability and intractable epilepsy with non-convulsive status epilepticus. The MRI brain showed focal cerebral dysplasia over the left temporal region. The multiple seizures were refractory to antiepileptic medications and prolonged, confused state with or without a motor component. The continuous video-EEG monitor showed epileptiform discharges over bilateral frontal regions with frontal origin. The symptoms were relieved after midazolam infusion. A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.
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PMID:Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. 2539 Nov 99

Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered.
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PMID:A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. 2945 78

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare neurological condition characterised by drug-resistance seizures, hemiparesis, mental retardation, facial asymmetry, and intellectual disabilities. On brain imaging, the disease is characterised by cerebral hemiatrophy with ipsilateral calvarial thickening and hyperpneumotisation of paranasal sinuses or mastoid air cells. Although more common in men and on the left side of the brain, the disease can affect both genders and cerebral hemispheres. It mainly presents in childhood. The adult presentation is unusual but has been reported in medical literature. Most of the patients need more than one antiepileptic agent for optimal control of seizures. Hemispherectomy is reserved for patients who have drug-resistant and disabling seizures. The good prognostic factors are disease onset before age of two and better seizure control. We report two cases of DDMS occurring in teenage boys who presented with status epilepticus. The clinical histories, radiological findings, and treatment of both patients are discussed below.
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PMID:Dyke-Davidoff-Masson Syndrome: An Unusual Cause of Status Epilepticus and Refractory Seizures. 2986 35


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