Intraventricular twin fetuses in fetu

J Neurosurg Pediatr. 2012 Jan;9(1):17-23. doi: 10.3171/2011.10.PEDS11196.

Abstract

The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th-75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th-75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Prenatal ultrasonography studies performed at 12 weeks and 5 days, and 19 weeks and 6 days revealed normal findings. A 37-week prenatal ultrasonography study showed ventriculomegaly and obstructive hydrocephalus, with a possible intracranial teratoma. Cranial imaging at birth with ultrasonography, CT and MR imaging, and MR angiography demonstrated 2 complex intraventricular masses with cystic, solid, and bony elements. A craniotomy with resection of the masses was performed at 3 months of age. The infant survived and is now 12 months old with some developmental progress. Two axial skeletons, with accompanying rib cage and extremities, including well-formed feet and toes, were noted. Both anencephalic structures had skin with hair, fat, skeletal and smooth muscle, and bony structures with bone marrow and focal areas of calcification. Multiple viscera were present and included thymus, bowel, stomach, salivary gland, kidney, adrenal gland, lung, and presumed adnexal structures. A diagnosis of fetuses in fetu was rendered. Chromosomal studies of the child and tissue from the 2 fetuses in fetu showed normal female karyotypes. A single nucleotide polymorphism array analysis from the proband infant and tissue from the 2 identified fetuses in fetu appeared to be genetically identical. These results are consistent with a monozygotic twin embryonic origin of the fetus in fetu tissue, which is a mechanism that has been suggested in previous reports in which karyotypes, blood types, and limited genetic loci have been studied. This is the first report of a rare example of intracranial intraventricular twin fetuses in fetu for which a genome-wide single nucleotide polymorphism assay has confirmed their genetic identity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anencephaly / diagnosis
  • Anencephaly / genetics
  • Anencephaly / pathology
  • Anencephaly / surgery
  • Brain Damage, Chronic / diagnosis
  • Brain Damage, Chronic / etiology
  • Calcinosis / diagnosis*
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Calcinosis / surgery
  • Cerebral Hemorrhage / diagnosis
  • Cerebral Hemorrhage / etiology
  • Craniotomy
  • Echocardiography
  • Female
  • Fetus / abnormalities*
  • Fetus / surgery
  • Follow-Up Studies
  • Humans
  • Hydrocephalus / diagnosis*
  • Hydrocephalus / genetics
  • Hydrocephalus / pathology
  • Hydrocephalus / surgery
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Polymorphism, Single Nucleotide / genetics
  • Postoperative Complications / diagnosis
  • Postoperative Complications / etiology
  • Pregnancy
  • Status Epilepticus / diagnosis
  • Status Epilepticus / etiology
  • Tomography, X-Ray Computed
  • Twins, Monozygotic* / genetics
  • Ultrasonography, Prenatal