RESUMO
INTRODUCTION: Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient's diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings. CASE PRESENTATION: A 10-year-old male patient presented with vomiting, headache, lethargy, muscular weakness, and eye redness. The patient was mentally retarded, his right pupil was hyperemic, and he had muscle weakness on his left side. In addition, his blood pressure was high. The patient's history included a diagnosis of Moyamoya. A neck and cranial computed tomography (CT) angiography showed no flow bilaterally past the bifurcation of the carotid artery. The patient's bilateral internal carotid arteries were determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. On metabolic screening, the patient's homocysteine level was very high. In addition, a heterozygous A1298C mutation was identified in MTHFR. Therefore, the patient was started on a diet free from homocysteine and methionine. In addition, his treatment regimen included vitamins B12 and B6. With these treatments, the patient's complications regressed. CONCLUSIONS: In cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis and treatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented.
RESUMO
The aim of this study was to evaluate the relationship between the maxillary sinus volumes and the nasal septal deviation angles in patients with antrochoanal polyps (ACP). 76 patients who underwent ACP surgery were included in the study. Of those 36 patients who had multislice computed tomography (MSCT) were evaluated to calculate maxillary sinus volume. The records of paranasal MSCT of 36 healthy people without any paranasal sinus diseases or surgery constituted age- and gender-matched healthy controls. Maxillary sinüs volumes and septal deviation angles were calculated using the paranasal MSCT volume-rendering technique. Thirty-six patients in the ACP group were compared with 36 polyp side-matched healthy people. The mean age was 16.6 ± 6.7 years in both groups. Statistically, the mean value of the maxillary sinus volume was significantly higher in the ACP group compared with the ACP side-matched control group (15.1 ± 4.6 versus 12.0 ± 3.5 mm(3)) (p = 0.002). Furthermore, the mean value of the maxillary sinus volume in the non-polyp side (14.2 ± 4.7 mm(3)) was statistically higher in the ACP group compared with the side-matched control group volume (11.9 ± 3.8 mm(3)) (p = 0.024). In addition, Fifty-three of 76 ACP patients had septal deviation. While the septal deviation was on the same side with the ACP in 17 patients, it was on the opposite side in 36 patients. In conclusion, the maxillary sinus volumes increased in ACP patients compared with the healthy control group. Many patients had nasal septal deviation on the opposite side of the ACP.
