Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two adult patients with unilateral hypoplastic optic nerves, absent septa pellucida and hypopituitarism are described. Patient 1, aged 20, presented with diabetes insipidus due to partial vasopressin deficiency. Patients 2, aged 29, presented with focal epilepsy. Both had short stature. They showed absent growth hormone (GH) response to insulin-hypoglycaemia or glucagon, but responded to 100 micrograms growth hormone releasing factor (GRF-44) with a rise in circulating GH, suggesting a hypothalamic defect in GH release though a co-existing pituitary defect cannot be excluded. Other hypothalamic-pituitary functions were normal. These two patients probably represent the milder form of the clinical spectrum of septo-optic dysplasia which, with the extensive use of CT brain scans, will be increasingly encountered by physicians attending adult patients.
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PMID:Hypothalamic defects in two adult patients with septo-optic dysplasia. 375 51

Self-stimulation is a normal part of development and a common behaviour in children before puberty, but very rare in adults. The stereotyped semiology can sometimes raise the suspicion of epilepsy. We present a 30-year-old patient who came to our epilepsy monitoring unit for differential diagnosis of nocturnal episodes, interpreted elsewhere as hypermotor status epilepticus associated with a known diagnosis of focal epilepsy and septo-optic dysplasia. The recorded events during video-EEG were consistent with psychogenic self-stimulating behaviour, which improved with psychotherapy. Disturbed sexual development with hypopituitarism and poor eyesight, androgen replacement therapy, alongside a protective environment provided by her parents, were the identified predisposing factors for this uncommon entity in an adult. [Published with video sequence].
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PMID:Self-stimulation in an adult misdiagnosed with focal epilepsy. 3163 81