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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients.
 ...
PMID:The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation. 2853 48

During the recent outbreak of coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 coronavirus, there is rising concerns about neurological complications of COVID-19. Fever, headache, and anosmia may occur early during the disease course. Other neurological sequalae such as encephalitis may occur in later phases. We report a case of acute myelitis in a 32-year old male COVID-19 positive patient who presented with a 2-day history of flu-like symptoms then sudden onset paraplegia and urinary retention. The incidence is not known and the pathogenesis of the disease behind this manifestation is still not fully understood. Nevertheless considering the broad differential diagnosis of acute myelitis, prompt clinical, and diagnostic work up was crucial to exclude other causes. Patients presenting with neurological symptoms such as loss of consciousness, ataxia, convulsions, status epilepticus, encephalitis, myelitis or neuritis should raise concerns for COVID-19 infection during this pandemic prompting early diagnosis and initiation of proper management.
 ...
PMID:Acute myelitis as a neurological complication of Covid-19: A case report and MRI findings. 3268 76