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)

Non-convulsive status epilepticus (NCSE), a neurological emergency, is reported to account for approximately 25% of patients presenting in status epilepticus. Diagnosis of NCSE can be delayed or missed because of its often subtle presentation. Hypocalcemia has rarely been reported as a precipitator of NCSE and thus should be considered in the differential. We report the case of a 46-year-old man with idiopathic hypoparathyroidism who presented in NCSE secondary to hypocalcemia. As in patients with convulsive status epilepticus, rapid diagnosis and treatment of patients in NCSE is critical to prevent permanent neurological damage.
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PMID:Non-convulsive status epilepticus in a patient with hypocalcemia. 975 43

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

Etiologic diagnosis of seizure requires proper consideration of apparently unrelated clinical features of the patient. Here, we report the case of a patient of status epilepticus with moderate-to-severe bilateral sensorineural deafness. Investigations showed extensive intracranial calcification, hypoparathyroidism and unilateral renal agenesis. The features were consistent with Barakat syndrome, a rare developmental disorder associated with mutations in the GATA3 gene. To the best of our knowledge, this is the first reported case of Barakat syndrome from India.
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PMID:Seizure, deafness and renal agenesis: A rare case of barakat syndrome. 2366 72