Partial facial duplication (diprosopus): a case report and review of the literature

Abstract

Background: 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.

Case presentation: 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.

Conclusion: 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.

Keywords: Corpus callosum agenesis; Craniofacial duplication; Diprosopus; Interhemispheric lipoma.

Fig. 1

3D reconstructed image showing two oral cavity that are separated by large soft tissue having two dimples. On the same image the nostrils are seen separated by flat nasal bridge and there is increased gap between the eyes

Fig. 2

Transfontanelle ultrasound images A coronal image showing absence of corpus callosum with Viking helmet appearance of the anterior horn of lateral ventricles (black arrows) and dilated high riding 3rd ventricle (white arrow), B mid sagittal image absence of corpus callosum and radiating appearance of the grey matters typical for the sun ray appearance (arrows)

Fig. 3

Post contrast axial brain CT image showing small midline fat density lesion representing lipoma (white arrow)

Fig. 4

3D volume rendered bone window image of head CT [right oblique (A), frontal (B) and left oblique view (C)] demonstrating widely separated metopic suture (blue arrow), orbits and partially duplicated mandible (white arrow)

Fig. 5

Axial soft tissue window CT image A showing widely separated orbits B more lower down images demonstrating two nasal opening (blue arrow) that are separated by soft tissue (white arrow) C axial image demonstrating partially duplicated tongues anteriorly (orange arrows) which fuse posteriorly directing to the two mouths on each side D axial image at levels of mandibles demonstrating posteriorly fussed lateral diverting tongue bases, no duplication of the posterior aero digestive system is noted