title: Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) often presents with a history of migraine with aura and eventual manifestations of dementia with unrelenting, repeated cerebral vascular insults. Only 6-10% of patients with CADASIL have been reported to develop seizures, and status epilepticus (SE) is exceedingly rare. Here, we describe a patient who presented with recurrent SE, with eventual biopsy diagnosis of CADASIL. An 80-year-old woman presented to our hospital three times in two years with decreased level of consciousness and subtle intermittent right-sided upper extremity and facial twitching. There was no known significant family history and no past medical history for seizures, stroke, migraine headache, or overt dementia. Electroencephalography revealed recurrent focal seizures with left hemispheric onset and evolution, fulfilling the criteria for focal SE each time. All three admissions required sedation with midazolam to control seizure activity, in addition to high doses of multiple antiepileptic drugs. Brain MRI repeatedly showed extensive abnormalities in the periventricular and deep white matter, subcortical white matter, and bilateral basal ganglia. Skin biopsy was obtained on the third admission, and electron microscopy showed numerous deposits of granular osmiophilic material, which are pathognomonic for CADASIL. Detailed investigations failed to reveal any other etiology for the patient's condition. This case illustrates the potential for nonconvulsive SE to be the sole manifestation of CADASIL. With the appropriate brain MRI findings, CADASIL should be added to the list of rare causes of SE.
authors: Weill Cornell Medical College in Qatar, Education City, PO Box 24144, Doha, Qatar.
authors: Naim
authors: N
authors: Haddad
authors: University of Arkansas for Medical Sciences, 4301 W Markham St, Little Rock, AR 72205, USA.
authors: Catherine
authors: C
authors: Ikard
authors: University of Arkansas for Medical Sciences, 4301 W Markham St, Little Rock, AR 72205, USA.
authors: Kim
authors: K
authors: Hiatt
authors: Weill Cornell Medical College in Qatar, Education City, PO Box 24144, Doha, Qatar.
authors: Vignesh
authors: V
authors: Shanmugam
authors: Virginia Tech-Carilion School of Medicine and Research Institute, 2 Riverside Circle, Roanoke, VA 24016, USA.
authors: James
authors: J
authors: Schmidley
keywords: CADASIL; CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CSF, cerebrospinal fluid; EEG; MRI; PEG, percutaneous endoscopic gastrostomy; SE, status epilepticus; Seizures; Status epilepticus