Clinical manifestations of neurosarcoidosis.

Sarcoidosis is a chronic disease of unknown aetiology. Neurosarcoidosis is registered in 5% of patients with sarcoidosis. Clinical manifestations of sarcoidosis are numerous and diverse. Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, hypogonadotropic hypogonadism, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, peripheral neuropathy, cranial nerve abnormalities, radiculopathies, peripheral neuropathy, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab. 2, Ref. 60).

Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene.

We are presenting a 59-year-old woman and 37-year-old man with amaurosis fugax. They underwent a comprehensive ophthalmological and neurological examination. Standard diagnostic examination revealed no possible cause of this temporary condition, therefore additional genetic analysis for possible hereditary thrombophilia was performed. Examination established hereditary thrombophilia: the heterozygotic type gene for MTHFR (C677), deletion/insertion polymorphism for PAI-1 (4G/5G) in women and deletion/insertion polymorphism 4G/5G for PAI-1 and heterozygotic genotype DD (190 bp) for angiotensin converting enzyme (ACE) in man. In our patients, amaurosis fugax is probably caused by hereditary thrombophilia (Ref. 16). Full Text (Free, PDF) www.bmj.sk.