An autopsy case of epignathus (immature teratoma of the soft palate) with intracranial extension but without brain invasion: case report and literature review

Abstract

BackgroundEpignathus is a rare congenital orofacial teratoma infrequently associated with intracranial extension. Intracranial extension of an epignathus indicates a poor prognosis; however, only a small number of such cases have been reported. While there have been some studies reporting cases of epignathus expanding directly into the cranium, others have reported no communication between an epignathus and an intracranial tumor.Case presentationA fetus at gestational week 27 was suspected of having an epignathus with intracranial tumor as shown by ultrasonographic and magnetic resonance imaging. The fetus was stillborn and an autopsy was performed. An epignathus measuring 12 × 6 × 6 cm and weighing 270 g protruded from the mouth, with its base on the soft palate. An intracranial tumor weighing 14 g was located at the middle intracranial fossa and connected to the epignathus through the right side of the sella turcica. The intracranial tumor was encapsulated, and there was no invasion into the brain. Histologically, both the epignathus and intracranial tumor were immature teratomas, with neural and pulmonary components that were especially immature as compared to those of the internal organs and brain tissues of the fetus.ConclusionThere have been several reports of epignathus and intracranial tumors that did not communicate; therefore, careful evaluation is needed when a fetus is suspected of having an epignathus extending into an intracranial lesion. Our case supports the findings that an epignathus can directly expand into the cranium. Moreover, this is a rare case of an epignathus in which the intracranial lesion was encapsulated and did not invade the brain. These rare but important findings will provide additional, potential therapeutic strategies for gynecologists, neurosurgeons, and pathologists.

Fetal teratomas – A retrospective observational single‐center study

“…Epignathus arise from the fetal palate or pharynx, fill the buccal cavity and usually protrude from the mouth. Intracranial tumor extension can severely worsen prognosis, thus detailed fetal neurosonography as well as additional fetal MRI is recommended 25,28 . In our cohort, one child was diagnosed additionally with duplication of the pituitary gland (DPG) syndrome 29 .…”

“…Intracranial tumor extension can severely worsen prognosis, thus detailed fetal neurosonography as well as additional fetal MRI is recommended. 25,28 In our cohort, one child was diagnosed additionally with duplication of the pituitary gland (DPG) syndrome. 29 Epignathus is found in 16% of children with this rare diagnosis.…”

Epignathus with oropharynx destruction

“…This tumor always originates from the hard palate. In six cases the lesion also had an intracranial component 4,[12][13][14][15] (Table 1 and Table 2).…”

Congenital epignathus associated with a cleft palate: a case report

“…They account for only 2% of teratomas and almost always present in neonates. Most are benign, although malignancies have been reported [ 4 – 6 ]. Although other teratomas have a 6:1 female predilection, those of the oral cavity do not seem to have a clear sex predilection.…”

“…Some teratomas extend beyond the mouth, and these lesions can be associated with mid-face defects including cleft lip and palate. There are reports of palatal teratomas extending beyond the oral and nasal cavity and even extending into the cranial cavity with resultant destruction of brain tissue [ 3 , 6 ].…”