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February 28, 2023; 100 (9) Resident & Fellow Section

Teaching NeuroImage: Intraventricular Fetus-in-Fetu With Extensive De Novo Gain in Genetic Copy Number

Zongze Li, View ORCID ProfileLi Ma, Yuanli Zhao, Chunde Li
First published December 12, 2022, DOI: https://doi.org/10.1212/WNL.0000000000201578
Zongze Li
From the Department of Neurosurgery (Z.L.), Huashan Hospital, Fudan University, Shanghai, P.R.China; Department of Neurosurgery (L.M., Y.Z., C.L.), Beijing Tiantan Hospital, Capital Medical University, P.R.China; and Department of Neurosurgery (Y.Z.), Peking University International Hospital, Beijing, P.R.China.
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Li Ma
From the Department of Neurosurgery (Z.L.), Huashan Hospital, Fudan University, Shanghai, P.R.China; Department of Neurosurgery (L.M., Y.Z., C.L.), Beijing Tiantan Hospital, Capital Medical University, P.R.China; and Department of Neurosurgery (Y.Z.), Peking University International Hospital, Beijing, P.R.China.
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  • ORCID record for Li Ma
Yuanli Zhao
From the Department of Neurosurgery (Z.L.), Huashan Hospital, Fudan University, Shanghai, P.R.China; Department of Neurosurgery (L.M., Y.Z., C.L.), Beijing Tiantan Hospital, Capital Medical University, P.R.China; and Department of Neurosurgery (Y.Z.), Peking University International Hospital, Beijing, P.R.China.
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Chunde Li
From the Department of Neurosurgery (Z.L.), Huashan Hospital, Fudan University, Shanghai, P.R.China; Department of Neurosurgery (L.M., Y.Z., C.L.), Beijing Tiantan Hospital, Capital Medical University, P.R.China; and Department of Neurosurgery (Y.Z.), Peking University International Hospital, Beijing, P.R.China.
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Citation
Teaching NeuroImage: Intraventricular Fetus-in-Fetu With Extensive De Novo Gain in Genetic Copy Number
Zongze Li, Li Ma, Yuanli Zhao, Chunde Li
Neurology Feb 2023, 100 (9) 444-445; DOI: 10.1212/WNL.0000000000201578

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An intraventricular fetus-in-fetu, a malformed monochorionic diamniotic twin, was identified in a 1-year-old girl with motor delay and enlarged head circumference (Figure 1). After surgical removal, whole-genome sequencing revealed identical single-nucleotide variants in the host child and fetus-in-fetu, with extensive de novo copy number gains in the fetus-in-fetu (Figure 2, eMethods, links.lww.com/WNL/C529), suggesting the significance of copy number variation during embryogenesis.

Figure 1
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Figure 1 Imaging of Fetus-in-Fetu

Head CT (A) and T1-weighted image (B) of an infant showing hydrocephalus, compressed brain, and intraventricular mass with vertebral column, femur, and tibia. T1-weighted image of the mass revealing spinal bifida (C). The fetiform mass with upper limb and finger-like buds (D).

Figure 2
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Figure 2 Copy Number Duplication in Fetus-in-Fetu

Red bands indicating copy number gain.

The intracranial fetus-in-fetu is proposed to arise from unseparated blastocysts. The conjoined parts develop into the forebrain of host fetus and envelop the other embryo during neural plate folding.1 Fetus-in-fetu can be distinguished from teratomas based on the younger age of presenting patients and the presence of vertebrae or internal organs.2

Author Contributions

Z. Li: drafting/revision of the manuscript for content, including medical writing for content. L. Ma: study concept or design; analysis or interpretation of data. Y. Zhao: major role in the acquisition of data; study concept or design. C. Li: major role in the acquisition of data; Study concept or design.

Study Funding

This project was supported by the National Natural Science Foundation of China (81801140 to Dr Ma and 81571110, 81771234 to Dr Zhao).

Disclosure

The authors report no relevant disclosures. Go to Neurology.org/N for full disclosures.

Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Submitted and externally peer reviewed. The handling editor was Resident and Fellow Section Editor Whitley Aamodt, MD, MPH.

  • Teaching Slides links.lww.com/WNL/C530

  • Received June 17, 2022.
  • Accepted in final form October 6, 2022.
  • © 2022 American Academy of Neurology

References

  1. 1.↵
    1. Miura S,
    2. Miura K,
    3. Yamamoto T, et al.
    Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses. Am J Med Genet A. 2006;140A(16), 1737-1743.
    OpenUrlPubMed
  2. 2.↵
    1. Huddle LN,
    2. Fuller C,
    3. Powell T, et al.
    Intraventricular twin fetuses in fetu. J Neurosurg Pediatr. 2012;9(1), 17-23.
    OpenUrlPubMed

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