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

Identification:

Sex/Age: Male, 45 years

History:

Proliferative retinopathy diagnosed at 38 years

Mild arterial hypertension

Current Illness History (CIH):

Main symptom: Chronic headache for 3 months

Pain characteristics:

Location: Bifrontal

Character: Constant pressure

Intensity: 6-7/10

Frequency: Almost daily

Associated symptoms:

Progressive visual loss (more pronounced in the right eye)

Transient episodes of weakness in the right upper limb

Mild cognitive deficit (difficulty concentrating)

Unintentional weight loss (5kg in 4 months)

Physical/Neurological Examination:

Visual acuity: 20/200 OD, 20/100 OS

Fundoscopy: Bilateral retinopathy

Neurological examination:

Slight spasticity in lower limbs

Brisk and symmetrical reflexes

Preserved coordination

Cognitive function: MMSE 26/30

Complementary Exams:

Brain MRI: Diffuse leukoencephalopathy with multiple subcortical lesions

MR Angiography: Small cerebral vessel stenosis

Genetic test: Mutation in the TREX1 gene (confirmatory for RVCLSM)

Systemic evaluation:

Proteinuria (500mg/24h)

Preserved renal function

Negative serologies for vasculitis