Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intracranial calcification may result from disturbances in calcium metabolism. It often remains asymptomatic, but may present with symptoms like seizure and neurological deficits. Correction of the underlying metabolic disturbance before damage of neuronal tissues due to intracranial calcification may be useful in preventing irreversible neurological deficits. This window period may be the crucial period that needs a thorough clinical evaluation and urgent intervention. We highlight the case of an adult woman with Fahr's disease presented with generalised tonic-clonic seizure. The management priorities were also discussed along with review of literature.
Gen Psychiatr 2019
PMID:Relevance of early intervention in Fahr's disease: understanding through a case study. 3117 22

Limbic encephalitis represents a cluster of autoimmune disorders, with inflammation in the medial temporal lobe characterised by subacute onset of neuropsychiatric symptoms such as anxiety, affective symptoms, psychosis, short-term memory impairment as well as faciobrachial and grand mal seizures. We aim to present a case of a 53-year-old man with positive anti-voltage-gated potassium channel (VGKC) complex antibodies who initially presented with symptoms of psychotic mania. Six weeks post-psychiatric symptomatology, he presented with neurological symptoms such as faciobrachial jerking and tonic-clonic seizure. The patient had no previous psychiatric history and was initially treated with psychotropic medications. Our experience emphasises the fact that limbic encephalitis is not easy to identify as most patients initially present with psychiatric symptomatology than neurological symptoms. Furthermore, immunological and laboratory testing takes a rather long time to determine the diagnosis. What is more, few psychiatrists consider autoimmune nature of the neuropsychiatric presentation. Therefore, it is important to consider autoimmune encephalitis in patients with new-onset psychosis or mania who also present with neurological symptoms at some stage of their illness. Characteristic indicators of autoimmune encephalitis include neurological symptoms such as facial twitching, seizures, confusion and cognitive decline.
Gen Psychiatr 2020
PMID:Anti-voltage-gated potassium channel complex antibody-mediated limbic encephalitis: a case report of a 53-year-old man admitted to intensive care psychiatric unit with psychotic mania. 3265 94