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Oculo-dento-digital Dysplasia, Acute Inpatient Rehabilitation, and Steroid Treatment

Shannon R. Strader, DO, MS (University of Louisville School of Medicine PM&R Program, Louisville, Kentucky); Samuel Kimmell; Mark Gormley; Matthew D. Adamkin, MD, FAAPMR

Meeting: AAPM&R Annual Assembly 2022

Categories: General Rehabilitation (2022)

Session Information

Session Title: AA 2022 Posters - General Rehabilitation

Session Time: None. Available on demand.

Disclosures: Shannon R. Strader, DO, MS: No financial relationships or conflicts of interest

Case Diagnosis: A 45-year-old male with significant bilateral lower extremity spasticity and incontinence due to progression of oculo-dento-digital dysplasia

Case Description or Program Description: Oculo-dento-digital dysplasia (ODDD) is a rare genetic disorder. Patients with ODDD commonly present with multiple congenital anomalies, including syndactyly, microphthalmia, microcornea, and hypotrichosis. To date, there has not been a case documented about ODDD, acute inpatient rehabilitation, and the impact of steroids on spasticity. Our patient with ODDD was admitted to acute inpatient rehabilitation (AIR) after experiencing two months of impaired functionality due to spasticity. On admission, there was concern for a neurological emergency; the patient was given IV methylprednisolone. The patient reported that his spasticity significantly improved after administration of IV steroids. After the patient became medically stable, he was transferred to AIR. On physical exam, the BLE Modified Ashworth Scale (MAS) was 3, particularly with knee extension (KE) and ankle plantarflexion (APF). Within 24 hours of initiation of a Medrol dose pack, the patient’s BLE MAS for KE decreased to 2 from 3 and APF decreased to 2 from 3. After completion of Medrol dose pack, patient’s MAS returned to 3 within 24 hours. Steroids were restarted. Functionally, patient was walking with cane with supervision upon discharge.

Setting: Acute Inpatient Rehabilitation

Assessment/Results: The patient demonstrated improved strength and mobility after inpatient rehabilitation while taking oral steroids.

Discussion (relevance): We believe this is the first reported case of a patient with ODDD in an inpatient rehabilitation setting. We also believe due to the specific pathogenic mechanism of hypertonia and spasticity in patients with ODDD, there needs to be additional research leading to novel therapeutic strategies for this population.

Conclusions: Patients with connexins disorders, specifically ODDD, may develop spasticity and functional impairments causing impaired quality of life. Thus, patients with connexins disorders may benefit from inpatient rehabilitation, initiation of steroids, and evaluation by a physiatrist.

Level of Evidence: Level V

To cite this abstract in AMA style:

Strader SR, Kimmell S, Gormley M, Adamkin MD. Oculo-dento-digital Dysplasia, Acute Inpatient Rehabilitation, and Steroid Treatment [abstract]. PM R. 2022; 14(S1)(suppl 1). https://pmrjabstracts.org/abstract/oculo-dento-digital-dysplasia-acute-inpatient-rehabilitation-and-steroid-treatment/. Accessed May 9, 2025.
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