Adriana Octaviana DULAMEA, Ioan Cristian LUPESCU and Ioana Gabriela LUPESCU

ABSTRACT

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease caused by mutations in NOTCH3 gene, characterized by accumulation of a toxic protein in the small and medium size arterioles. Clinical manifestations of CADASIL include lacunar infarcts or, less frequently, large artery ischemic strokes, transient ischemic attacks, dementia, migraine and psychiatric disorders. Brain magnetic resonance imaging (MRI) usually shows multiple lacunar infarcts, diffuse leukoencephalopathy and cerebral microbleeds. The authors report the case of a 39-year-old Romanian woman who presented two transient ischemic attacks manifested with aphasia, headache and mild cognitive impairment. Brain MRI showed multiple isolated and confluent bilateral supratentorial hyperintense fluid-attenuated inversion recovery (FLAIR) and apparent diffusion coefficient (ADC) areas involving the subcortical and deep white matter, but also lenticular and caudate regions and normal aspects of the brain arteries on magnetic resonance angiography (MR-angiography). Differential diagnosis with other disorders affecting small cerebral vessels was performed. Transesophageal echocardiography showed presence of patent foramen ovale (PFO), with right-to-left shunt and contrast passage at Valsalva maneuver. Genetic testing revealed a pCys194Arg heterozygous mutation with C580T>C nucleotide’s change on exon 4 of NOTCH 3 gene. The authors discuss the association of CADASIL to PFO and mild cognitive impairment as well as ongoing research for a therapeutic strategy.
Keywords: CADASIL, patent foramen ovale, lacunar infarct, migraine, dementia

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Ioan-Cristian LUPESCU and Adriana Octaviana DULAMEA

ABSTRACT

Chronic inflammatory demyelinating polyneuropathy is an acquired, presumably immune-mediated peripheral neuropathy, characterized by symmetric sensory-motor involvement. Although most often idiopathic, it has been described in association with several disorders, sometimes improving under treatment. We present the case of a 57-year-old male who was admitted to hospital for paresthesias and muscle weakness affecting both upper limbs, initially only the hands, but with worsening and ascending progression during the last three years. The lower limbs were also involved but to a lesser extent. Electromyography indicated multifocal chronic demyelinating polyneuropathy with predominant upper limb involvement. Lumbar puncture showed a raised cerebrospinal fluid protein level. Laboratory samples revealed positive serology for HBV. Based on these, the diagnosis of chronic inflammatory demyelinating polyneuropathy with chronic hepatitis B was made. The patient received IVIG therapy and has since been coming periodically for IVIG sessions, with clinical and electromyographic improvement.
Keywords: chronic demyelinating polyneuropathy, hepatitis B.

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