Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature.

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Here we present two new patients with ATS from two unrelated families. Patient 1 presented at 10 years of age with headache and typical physical appearance, delicate skeleton, large visible pulsation of the carotid arteries in the neck, and joint laxity. On computed tomography (CT) angiography she had severe tortuosity of the aortal branches and cerebral arteries, but no significant tortuosity of the pulmonary arteries. Two cousins of the girl carried the same homozygous c.254T>C, p.(Leu85Pro) mutation in SLC2A10, however, they additionally had a severe involvement of the pulmonary vessels. Patient 2 was a 9-year-old girl diagnosed with severe tortuosity and stenosis of the pulmonary arteries and progressive myocardiopathy. Her physical appearance was very similar to Patient 1, except that she also had growth retardation. After long-term follow-up by cardiologists, she underwent cardiac surgery abroad, with an unfavorable outcome. Homozygosity for the c.685C>T, p.(Arg229*) mutation in the SLC2A10 gene was detected. Consanguinity was disclosed within both families. Our findings confirm the intrafamilial phenotype variability of ATS. A novel finding is the severe tortuosity of cerebral arteries causing migraine that has not been described before in a child with ATS.

Morphological characteristics of the superior cerebellar artery.

With the introduction of new techniques in diagnostic and interventional radiology and progress in micro neurosurgery, accurate knowledge of the brain blood vessels is essential for daily clinical work. The aim of this study was to describe the morphological characteristics of the superior cerebellar artery and to emphasize their clinical significance. In this study we examined radiographs of 109 patients who had CT angiography at the University Clinic for Radiology in Skopje, R. Macedonia. This study included 49 females and 60 males, ranging in age from 27 to 83 years; mean age 57.4 ± 11.8 years. In 105 patients SCA arose from the basilar artery on both sides as a single vessel. In two patients SCA arose as a duplicate trunk from the basilar artery. We found unilateral duplication on the right SCA in one patient, and bilateral duplication in one patient. In two patients was noticed origin of the SCA from PCA as a single trunk from adult type of the PCA. Through knowledge of the anatomy and variations of SCA is important for clinicians as well as basic scientists who deal with problems related to intracranial vasculature in daily basis for save performance of diagnostic and interventional procedures.

Morphological characteristics of the first part of the vertebral artery.

Because of their anatomical localization, vertebral arteries were neglected in research for a long period of time. Vertebral arteries are responsible for about 30% of the brain blood supply. The aim of this study was to examine the vertebral artery's course in the first segment, and to define the anatomic variations and percentage of their appearance in the adult population using CT angiography. The data derived from this study may find useful application in a wide range of medical fields, such as anatomy, radiology and surgery. For that purpose during a 6-month period we examined 30 patients with CT angiography. The origin of the vertebral artery in all 30 patients was from the subclavian artery. The diameter of the left vertebral artery was from 1.6-5.20 mm., average 3.35 mm. The diameter of the right vertebral artery was from 1.64-5.40 mm., average 3.19 mm. Hypoplasia of the vessel was found in four patients. We found no aplasia of the vessel in this series. A contorted course was found in 12 (40%) patients. In all 30 (100%) patients the vertebral artery entered the foramen transversum at the level of the sixth cervical vertebra. Although the incidence of anatomical variations is rare, their presence is significant in the diagnostic and surgical procedures in the head and neck region. Insufficient knowledge can lead to serious iatrogenic injures.

Basilar artery fenestration.

The posterior circulation of the brain constitutes the vertebrobasilar system and its branches, which are responsible for about 30% of the brain's blood supply. The aim of this study was to describe the anomalies of the basilar artery, especially fenestrations. For that purpose, we examined 50 patients with computed tomography (CT) angiography during an 8-month period. In the CT reports of 2 (4%) patients of the 50 analysed, fenestration was found at the proximal basilar trunk. The two fenestrations in our series were not associated with aneurysms. No collateral branches originated from the two limbs of the fenestration. In conclusion, basilar artery fenestrations are a rare finding. The data derived from this study are useful teaching material for anatomists, and for the radiologists and neurosurgeons they are important for diagnostic and intervention procedures such as CT, magnetic resonance imaging, angiography, and surgical and endovascular procedures.