# A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management

**Authors:** Shirley M Gandhi, Pruthvi Patel, Taylor Carter, Larry Stutts

PMC · DOI: 10.7759/cureus.51471 · Cureus · 2024-01-01

## TL;DR

A 29-year-old woman with Patau syndrome underwent a robotic-assisted vaginal hysterectomy to manage her health issues.

## Contribution

This case report highlights medical management and surgical intervention in a rare mosaic Patau syndrome patient.

## Key findings

- The patient opted for robotic-assisted vaginal hysterectomy to address menorrhagia and miscarriages.
- Medical interventions can improve quality of life in mosaic Patau syndrome patients.
- The case emphasizes the importance of tailored surgical and anesthetic approaches.

## Abstract

Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic impact on the development of the human body, which can result in, but is not limited to, microphthalmia, microcephaly, low-set ears, cleft palate, cardiac abnormalities, and abdominal wall defects. It is associated with severe physical and intellectual disabilities and a limited lifespan.

Here, we present a 29-year-old female with a high suspicion of the mosaic form of Patau syndrome. She decided to opt for an elective robotic-assisted vaginal hysterectomy (RAVH) due to worsening menorrhagia and recurrent miscarriages. In addition, the importance of medical interventions from surgery to anesthesia is discussed, with their role in improving the quality of life of the patient.

## Linked entities

- **Diseases:** Patau syndrome (MONDO:0018068)

## Full-text entities

- **Diseases:** cleft lip (MESH:D002971), chromosomal aneuploidy (MESH:D000782), holoprosencephaly (MESH:D016142), abdominal wall defects (MESH:D046449), midline defects (MESH:C564054), intellectual disabilities (MESH:D008607), omphalocele (MESH:D006554), Patau Syndrome (MESH:D000073839), abortion (MESH:D000026), physical (MESH:D059445), neuropathy (MESH:D009422), congenital anomalies (MESH:D000013), microphthalmia (MESH:D008850), cleft palate (MESH:D002972), polycystic kidney disease (MESH:D007690), malformations (MESH:C564254), microcephaly (MESH:D008831), chromosomal abnormality (MESH:D002869), respiratory complications (MESH:D012140), cutis aplasia (MESH:D004476), polydactyly (MESH:D017689), adnexal masses (MESH:D000291), cervical stenosis (MESH:D002575), miscarriages (MESH:D000022), CIN (MESH:D002578), menorrhagia (MESH:D008595), congenital heart disease (MESH:D006330), dysplasia (MESH:D015792), scoliosis (MESH:D012600), low-set ears (MESH:C537239), uterine descensus (MESH:D014591), cardiac abnormalities (MESH:D018376)
- **Chemicals:** Nexplanon (MESH:C044815)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC10829937/full.md

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC10829937/full.md

## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC10829937/full.md

---
Source: https://tomesphere.com/paper/PMC10829937