Disclosures: Matthew A. Erby, MD: Nothing to disclose

Case Description: Physiatry evaluated a 1-year-old male with Trisomy 14 for concerns regarding development of wounds and potential neurological issues associated with his sacral osseous deformities and positioning in the adaptive stroller. On exam, two osseous protuberances were noted, one coccygeal and one sacral. Asymptomatic sacral dimpling was first noted at birth, which has been managed conservatively thus far. No imaging has yet been performed of the sacrum. The overlying skin was blanchable and friable with increased tension in the seated position, but no open wounds. The patient had 1-2 beats of clonus in the lower extremities bilaterally, but otherwise unremarkable neurological exam. The patient was actively moving and kicking his bilateral lower extremities.

Setting: An acute inpatient pediatric rehabilitation hospital.

Patient: 1-year-old male with a rare diagnosis of Trisomy 14 mosaicism.

Assessment/Results: Sacral and coccygeal nerves are potentially at risk due to the osseous deformities and the overlying friable skin creating a high-risk area for wound development. Prolonged seated positioning in the stroller elevates this risk. Pressure mapping was subsequently recommended for creating an appropriate stroller cushion for wound prevention.

Discussion: Reported characteristics of Trisomy 14 mosaicism are limited, but include intellectual disability, facial and skeletal deformities, abnormal skin pigmentation, and structural heart defects. Limited reports exist describing sacral osseous deformities in Trisomy 14 mosaicism or recommendations for neuroprotection. Although skeletal abnormalities are sometimes seen with Trisomy 14 mosaicism, sacral osseous deformities are rare and present unique challenges for management in preventing neurologic sequelae. This case highlights the importance of evaluating patients with Trisomy 14 mosaicism for sacral osseous defects and developing evidence-based recommendations for management.

Conclusion: Dermal and associated neural protection must be considered in patients with Trisomy 14 mosaicism with sacral osseous defects. Further evidence may highlight potential benefits of seat cushion pressure mapping, repositioning frequency, and regular monitoring for dermal or neurologic changes.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/a-toddler-diagnosed-with-trisomy-14-mosaicism-with-sacrococcygeal-osseous-deformities-a-case-report/