Cerebellar Atrophy and Neurocognitive Disorder as Primary Presentation of Antiphospholipid Syndrome in a Young Male

Abstract

Antiphospholipid syndrome (APS) is a multisystem autoimmune
disorder characterized by arterial or venous thrombosis and pregnancy
morbidity in the presence of antiphospholipid antibodies
(aPL).1 It can be primary or secondary. Primary antiphospholipid syndrome
occurs in the absence of any other related disease. Secondary
antiphospholipid syndrome occurs with other autoimmune diseases,
such as systemic lupus erythematosus.
The presence of aPL can be demonstrated in one of three ways:
the presence of anticardiolipin antibodies (aCL), β 2-glycoprotein I
antibodies (GPI), or lupus anticoagulant antibodies (LA).1 To meet
classification criteria for antiphospholipid syndrome, patients should
have one clinical criterion, either vascular thrombosis (venous or
arterial) or pregnancy morbidity (at least one fetal death or preterm
delivery or three or more unexplained, consecutive, spontaneous
pregnancy losses) and one laboratory criterion, the presence of aPL
antibodies need to be seen twice and at least 12 weeks apart for confirmation.
Neurological manifestations are common in APS and are
attributed mainly to vascular thrombosis and aPL-induced neuronal
tissue injury. The most common neurological presentation is an ischemic
cerebrovascular accident (CVA) or transient ischemic attack
(TIA). However, clinical presentations including cognitive dysfunction,
headaches, seizures, and psychosis may be atypical in some cases,
which makes diagnosis more difficult.2
In our case, a male patient initially presented with a neurocognitive
disorder, dementia, cerebral atrophy, and seizure of unknown etiology.
A diagnosis of APS was made after a brain biopsy revealed microinfarcts
and intimal fibrosis and an aPL antibody test was positive.