Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (<i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, <i>IFIH</i>, <i>LSM11</i>, <i>RNU7-1</i>) which stimulate the type I interferon response. The diagnosis was confirmed by identifying a compound heterozygous mutation p.(Phe165Ser)/p.(Gln235*) in the <i>SAMHD1</i> gene using whole-exome sequencing. The cystic lesions in the temporal lobes are an uncommon finding in the presented patient carrying a <i>SAMHD1</i> mutation. Reporting new cases expands the range of phenotypes and plays the crucial role in understanding the AGS pathogenesis and creates new therapy approaches.

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

Dirofilaria repens infection as a cause of intensive peripheral microfilariemia in a Polish patient: process description and cases review

Dirofilariasis is a parasitic disease of dogs and other carnivores transmitted mainly by the mosquitoes of the genera Culex, Aedes, Anopheles. Full life cycle of the Dirofilaria nematodes in humans is extremely rarely observed, usually lacking species determination at the molecular level. We report fully documented unusual clinical manifestation of subcutaneous dirofilariasis with intensive microfilariemia in peripheral blood revealed by the Knott’s concentration technique. The identification of the Dirofilaria repens nematode was based on typical morphological findings for adult gravid female nematode found in the histopathological preparations. The morphology of microfilariae obtained from patient’s peripheral blood was also typical for D. repens. The final identification was confirmed by the molecular analysis of microfilariae collected from the blood.