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Introduction. Cryptogenic stroke represents 25% of all cases. Paradoxical embolism is a common case in people under 45 years old who have patent foramen ovale. Case presentation. 44-years old patient with left motor deficit, dysarthria and dizziness suddenly installed after physical effort. During neurological evaluation, the patient had a central type facial paresis, slight asymmetry of the palatine tonsil, left motor hemiparesis (4/5), dysmetria and dysarthria. Biological examinations showed an association with MTHFR and heterozygous V factor mutation. Computed tomography was made brain with venous sequence where we could see hypoplastic right vertebral artery. MRI revealed a stroke in the territory of the superior cerebellar artery, bilaterally. Transesophageal ultrasound described a patent foramen ovale and an atrial septal defect. RoPE scale was 8 which meant a big risk for paradoxical embolism. Surgical correction was made for secondary prevention of stroke. After 3 months, the patient made a transcranial ultrasound with microbubbles contrast agent which detected a permeable right-to-left shunt. Conclusions. The ischemic stroke and patent foramen ovale with paradoxical embolism mechanism are common in young adults. Postinterventional repermeabilization are rare cases which can raise many questions about prophylaxis and treatment.

Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identifying the clinical signs suggestive for this disease makes it easier to initiate the methods needed for confirming this diagnosis. The introduction of enzyme replacement therapy from the onset, slows down the complications of the disease, improves the quality of life and reduces the emotional and mental burden caused by the clinical symptoms. The patient presented in the reported case received clinical explorations according to the data presented in the literature, confirming the diagnosis of Fabry disease, thus enabling to start the therapy as soon as possible and including the patient in the National Program for Fabry disease. Following enzyme replacement therapy, the clinical symptoms and the quality of life were improved. The emotional, mental and physical impact of this disease can be greatly reduced by knowing the clinical signs that allows for the diagnosis and early initiation of the treatment.

Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport. The clinical manifestations of Wilson disease are predominantly hepatic, neurologic, and psychiatric, with many patients having a combination of symptoms. Regardless of the clinical manifestations present initially, patients often develop other clinical manifestations as the disease progresses. Behavioural and psychiatric symptoms are more common in patients with neurologic involvement than in patients with hepatic involvement. However, behavioural and psychiatric symptoms due to Wilson disease are often misdiagnosed. This article presents the case of a 23-year-old male, presenting with psychiatric symptoms (depressions, insomnia) which progressed despite psychiatric treatment. After two years he was diagnosed with Wilson disease, confirmed by genetic testing.