6.8.5. Headache attributed to syndrome of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLSM)

Description:

Headache recurring as migraine-like attacks, mainly without aura, caused by the syndrome of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLSM). It may be associated with the other clinical features of RVCLSM or be the earliest clinical manifestation of it.

Diagnostic criteria:
  1. Recurrent migraine-like attacks, with or without aura, fulfilling criterion C
  2. The syndrome of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLSM) has been demonstrated1
  3. Migraine-like attacks are secondary to and part of the clinical manifestations of the syndrome
  4. Not better accounted for by another ICHD-3 diagnosis.
Note:

Diagnosis is made by genetic testing for TREX1 mutations.

Comment:

The syndrome of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLSM) is an autosomal dominant systemic small-vessel disease caused by C-terminal frame-shift mutations in TREX1. It is characterized clinically by focal neurological deficits, cognitive impairment, psychiatric disturbances, seizures, various systemic manifestations and, in at least half of cases, by migraine-like attacks. Other clinical manifestations are visual impairment from vascular retinopathy and neurological decline and premature death due to progressive enhancing cerebral white matter lesions. The clinical spectrum also includes impaired liver and kidney function, anaemia sometimes associated with gastrointestinal bleeding and hypertension. In younger patients, in whom brain MRI may be normal, the clinical manifestations include mild Raynaud’s phenomenon (54%), migraine (mainly without aura: 42%) and psychiatric disturbances (23%). The diagnosis in such cases may be suspected from family history.