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目的探讨Proteus综合征的临床表现,诊断标准,鉴别诊断以及预后,以提高临床医生对该病的认识。方法报道1例新生儿Proteus综合征患儿的临床资料,并对近10年来已报道的新生儿病例进行文献复习。结果我院该病例至42天随访时,胸腹部血管斑发展为血管瘤,腹部出现脂肪瘤。结合文献报道的共8例Proteus综合征病例中,7/8例在出生时即有非对称性过度生长的表现,3/8例病例存在典型的脑回状结缔组织痣。4/8例具有血管畸形,其中2例最后被确定为联合型血管畸形。1/8例存在胸壁皮下肿瘤。1/8例存在肺囊肿。4/8例病例在病程中出现惊厥症状,其中3例为半侧巨脑畸形。结论 Proteus综合征是一种散发且表现复杂的罕见疾病,临床表现多样,差异很大,需严格按照一般标准和特殊标准进行诊断。该疾病无特殊治疗方法,需进行长期随访,对症治疗,有神经系统表现者预后较差。
Objective To explore the clinical manifestations, diagnostic criteria, differential diagnosis and prognosis of Proteus syndrome in order to improve clinicians’ understanding of the disease. Methods The clinical data of 1 newborn with Proteus syndrome were reported, and literature reviews of neonatal cases reported in the past 10 years were carried out. Results In our hospital, up to 42 days of follow-up, the vascular plaque in the chest and abdomen developed hemangiomas with lipoma in the abdomen. In the 8 reported cases of Proteus syndrome, 7 of 8 cases showed asymmetric overgrowth at birth, and 3 of 8 cases had typical connective neoplasms of the brain. Four of the eight patients had vascular malformations, of which two were finally identified as associated with vascular malformations. 1/8 cases of subcutaneous tumors of the chest wall. One in eight patients had pulmonary cysts. 4/8 cases of convulsions in the course of the symptoms, of which 3 cases of hemifacial giant head deformities. Conclusions Proteus syndrome is a rare and complicated disease that is exuded and has complicated clinical manifestations. There is a great difference. Proteus syndrome needs to be diagnosed strictly according to general and special criteria. The disease without special treatment, need for long-term follow-up, symptomatic treatment, with poor prognosis of nervous system performance.