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CARASIL
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Acronym of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Very rare. Autosomal recessive transmission of a mutation of the HTRA1 gene (10q26) coding for the HtrA serin peptidase 1 protein (HTRA1). This protein inhibits signaling by modification of the TGF-beta growth factor group. This is a hereditary disease of the small cerebral vessels characterized by early onset walking disorders, premature alopecia (onset in adolescence), cerebral ischemic episodes (before 40 years of age), low back pain and cognitive impairment resulting in progressive severe dementia. Slight male predominance and variable onset, but the first signs (diffuse alopecia - not always present, and walking disorders) most often occur before 30 years of age. Episodes of intense back pain appear between 20 and 45 years of age. Some patients suffer from hernias, severe nodular thickening and distorting spondylosis with osteoporosis. Neurological symptoms include pseudobulbar paralysis, hyperreflexia, vestibular symptoms and ophthalmoplegia. Cognitive impairment appears between 30 and 40 years of age with memory loss. Other events include emotional incontinence, changes in personality (lability, irritability), temporal disorientation evolving towards an apallic syndrome (persistent vegetative state). In the advanced stages of the disease, aboulia and an akinetic state develop. Patients become usually bedridden within 10 years after the diagnosis is established, but can live up to 20 or 30 years of age with the disease.
Diagnosis: clinical features and brain MRI results. These are similar to those of CADASIL syndrome (see this term) including a white matter hyperintense symmetric distribution. High intensity lesions in the white substance and multiple lacunar infactions can be observed, and most are located in the periventricular and deep white matter. Treatment with baclofen and tizanidine may reduce spasticity. The prognosis is bad.
Anesthetic implications:
by analogy with CADASIL syndrome: dementia, epilepsy; maintain the cerebral perfusion pressure within the patient’s normal range: avoid hypo - and hypercapnia as well as hypo - and hypertension. It is probably useful to use NIRS to assess cerebral oxygenation (cortical) and quickly detect hypoperfusion in the monitored area (compare to the values measured before induction of anesthesia). Monitoring the depth of anesthesia (BIS for example) is useful to avoid awakening susceptibility but it is useful to know the awake BIS (before anesthesia) in case of dementia.
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Updated: November 2019