Oren Daniel, Dror Amiel A, Bramnik Tania, Sela Eyal, Granot Igal, Srouji Samer
Oral and Maxillofacial Surgery, Oral Medicine Institute, Galilee Medical Center, Nahariya, Israel.
The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
J Med Case Rep. 2021 Apr 12;15(1):197. doi: 10.1186/s13256-021-02741-5.
Thalassemia is an inherited autosomal recessive blood disorder causing abnormal formation of hemoglobin, known as a syndrome of anemia with microcytic erythrocytes. It is the most common genetic disorder worldwide, with a high prevalence among individuals of Mediterranean descent. The state of homozygosity of the beta-globin mutated gene is known as beta-thalassemia major, and these patients require regular blood transfusions and iron chelation therapy for survival. The rapid loss of red blood cells among affected individuals activates compensatory mechanisms of excessive medullary and extramedullary hematopoiesis, leading to severe skeletal bone deformity.
We present the case of a 39-year-old Bedouin male, diagnosed with beta-thalassemia major at infancy, with diagnosed homozygosity for the intervening sequence 2-1 (guanine > adenine) mutation. Since early infancy, he started receiving blood transfusions with a gradual increase in treatment frequency through adulthood due to the severe clinical progression of the disease. He was referred to the oral and maxillofacial surgery department at Galilee Medical Center to evaluate his facial deformity in the upper jaw and treat his severe periodontal disease. The patient presented maxillary overgrowth, and severe dental deformity resulted in progressive disfigurement and difficulty chewing, swallowing, and speaking. To address the challenge of surgical treatment, we utilized the advantage of three-dimensional planning and printing technology to simulate the optimal result. Resection of maxillary bone overgrowth and insertion of custom-made subperiosteal implants were followed by rehabilitation of both jaws to the patients' satisfaction at 3-year follow-up.
The ongoing implementation of state-of-the-art technologies such as virtual reality and three-dimensional printing has become a prominent component in surgical toolsets. Comprehensive case simulation and accurate planning before surgery will improve surgical results and patient satisfaction. This approach is highly advocated when approaching a case of rare maxillofacial deformity associated with either genetic or orphan diseases.
地中海贫血是一种常染色体隐性遗传性血液疾病，会导致血红蛋白异常形成，即一种伴有小细胞红细胞的贫血综合征。它是全球最常见的遗传疾病，在地中海血统个体中患病率很高。β-珠蛋白突变基因的纯合状态被称为重型β地中海贫血，这些患者需要定期输血和铁螯合疗法才能生存。受影响个体红细胞的快速流失会激活过度的骨髓和髓外造血的代偿机制，导致严重的骨骼畸形。
我们报告了一名39岁的贝都因男性病例，他在婴儿期被诊断为重型β地中海贫血，检测出中间序列2 - 1（鸟嘌呤>腺嘌呤）突变的纯合性。从婴儿早期开始，他就开始接受输血，随着疾病临床症状的严重进展，输血频率在成年期逐渐增加。他被转诊至加利利医疗中心口腔颌面外科，以评估其上颌面部畸形并治疗其严重的牙周疾病。该患者出现上颌过度生长，严重的牙齿畸形导致面部逐渐变形，咀嚼、吞咽和说话困难。为应对手术治疗的挑战，我们利用三维规划和打印技术的优势来模拟最佳效果。切除上颌骨过度生长部分并植入定制的骨膜下植入物，随后对上下颌进行修复，在3年的随访中患者对治疗效果满意。
虚拟现实和三维打印等先进技术的不断应用已成为手术工具集的一个重要组成部分。术前进行全面的病例模拟和精确规划将提高手术效果和患者满意度。在处理与遗传或罕见疾病相关的罕见颌面畸形病例时，强烈推荐这种方法。
