Fotaki P, Michailidis E, Vitoratos N, Deligeoroglou E, Kokkalis D, Creatsas G
Fetal-Maternal Unit, 2nd Obstetrics and Gynecology Department, Aretaieion Hospital, University of Athens, Greece.
Akush Ginekol (Sofiia). 2002;42(1):15-6.
Neurofibrosis or the Von Recklinghausen disease constitutes a genetically transmitted disease that appears in many parts of the body as well as many symptoms. It is inherited from the autosomatic dominant type (gene NFI on chromosome 17) and is characterized by brownish blemishes of the skin (cafe au lait), multiple neurofibromas (small dermal or subcutaneous lumps), symptoms of the peripheral and central nervous systems as well as disorders of the eyes, skeletal system, gastric system and vascular system (aneurysms of the aorta, carotid and renal arteries). We describe the case study of a 25 year old female, second pregnancy with known history of the above mentioned disease. She delivered on the 39th week of pregnancy (male neonate weighing 3000 gr.), with no problems. On the 22nd week of her pregnancy she presented with a large distension of the anterior surface of the neck in the area of the thyroid that gradually increased in size. Differential Diagnosis includes nodular goiter and neurofibroma. One month postpartum the morphoma was surgically. Neurofibrosis during pregnancy can cause many complications such as IUGR, hypertensive disease, spontaneous abortions, oligohydraminios and neurofibroma development. This case study is being discussed in international bibliography.
神经纤维瘤病或冯·雷克林豪森病是一种遗传性疾病,会在身体多个部位出现多种症状。它是常染色体显性遗传类型(17号染色体上的NFI基因),其特征为皮肤出现褐色斑点(牛奶咖啡斑)、多发性神经纤维瘤(小的真皮或皮下肿块)、外周和中枢神经系统症状以及眼部、骨骼系统、胃肠系统和血管系统疾病(主动脉、颈动脉和肾动脉的动脉瘤)。我们描述了一名25岁女性的病例研究,她第二次怀孕,有上述疾病的已知病史。她在怀孕第39周分娩(男婴,体重3000克),过程顺利。在她怀孕第22周时,甲状腺区域颈部前表面出现大面积肿胀,且逐渐增大。鉴别诊断包括结节性甲状腺肿和神经纤维瘤。产后一个月,对该瘤体进行了手术切除。怀孕期间的神经纤维瘤病可导致许多并发症,如胎儿宫内生长受限、高血压疾病、自然流产、羊水过少和神经纤维瘤生长。该病例研究正在国际文献中进行讨论。