Department of Radiology, Addis Ababa University, Addis Ababa, Ethiopia.
Division of Neonatology, Department of Pediatrics and Child Health, Addis Ababa University, Addis Ababa, Ethiopia.
J Med Case Rep. 2024 Mar 23;18(1):176. doi: 10.1186/s13256-024-04423-4.
Diprosopus, or craniofacial duplication, is a rare entity that occurs in approximately 1 in 180,000 to 15 million live births. The degree of duplication varies from complete facial duplication to small facial structure duplication like the nose and eye. The cause of diprosopus is unknown though there are proposed factors.
Our African patient was a term 72 hours old female neonate who was referred to our center with impression of lower facial duplication with two oral cavity that are located side to side separated by large soft tissue, she also had flat nasal bridge with widely separated nostrils and widely spaced eyes. Besides the facial malformation she had multiple episodes of vomiting with aspiration. Her blood tests were normal. Precontract brain computed tomography (CT) scan confirmed partially duplicated mandible and maxilla, two oral cavity separated by large fatty tissue, brain tissue were well formed and the only abnormality was corpus callosum agenesis and interhemispheric lipoma. In her stay at hospital nasogastric tube (NG) tube feed was initiated and started with antibiotics for aspiration pneumonia. After 25th day the neonatal passed away with possible cause of death being respiratory failure.
Craniofacial duplication is a very rare anomaly with only a few cases reported. Most of these patients are stillborn, even if they survive the prognosis is often poor. Early prenatal diagnosis is very important as termination of pregnancy can sometimes be considered an option.
双面畸形,又称颅面裂,是一种罕见的疾病,其发病率约为每 18 万至 1500 例活产儿中出现 1 例。畸形的程度从完全的面部重复到较小的面部结构重复,如鼻子和眼睛。虽然有一些假设的因素,但双面畸形的病因尚不清楚。
我们的非洲患者是一名足月出生 72 小时的女婴,因下颌面部重复的印象被转介至我们中心,有两个口腔,位于两侧,由大的软组织隔开,她还有扁平的鼻梁、分开的鼻孔和间隔较远的眼睛。除了面部畸形外,她还多次出现呕吐伴吸入。她的血液检查正常。术前脑计算机断层扫描(CT)证实部分重复的下颌骨和上颌骨,两个口腔由大的脂肪组织隔开,脑组织发育良好,唯一的异常是胼胝体发育不全和半球间脂肪瘤。在住院期间,她开始经鼻胃管(NG)喂养,并因吸入性肺炎开始使用抗生素。在第 25 天,新生儿死亡,可能的死因是呼吸衰竭。
颅面裂是一种非常罕见的异常,仅有少数病例报告。这些患者大多为死产儿,即使存活,预后通常也很差。早期产前诊断非常重要,因为有时可以考虑终止妊娠。