Document Type

Article

Publication Date

2022

Abstract

Background:

Larsen Syndrome is a rare osteochondrodysplasic disorder associated with Filamin 1 (FLN) gene mutations and clinically presents with frequent large joint dislocations, osseous disturbances, and craniofacial abnormalities. To date, no studies have assessed the medical and rehabilitative management of an individual living with Larsen Syndrome in an inpatient rehabilitation care setting.

Case presentation:

A 30 year-old biological female presented to the emergency department in June 2022 after developing worsening right-sided low back pain after bending forward. The patient’s past medical and surgical history was significant for Larsen Syndrome complicated by chronic hip, knee, and back pain, Celiac disease, major depressive disorder, post-traumatic stress disorder, obstructive sleep apnea, gastroesophageal reflux disease, cholecystectomy, and multiple falls. Radiological imaging uncovered cervical spinal cord instability with multiple vertebral abnormalities, of which were managed orthopedically via a cervical stabilization orthosis and precautions. Throughout the 13-day course of care, the patient’s pain and functional mobility decline were managed with pharmaceutical, rehabilitative, psychological, and recreational interventions. Upon discharge, the patient’s pain had improved from 7/10 to 0/10 on the Numerical Pain Rating Scale and Functional Independence Measure Motor subset scores improved from 55 to 75.

Conclusions:

Larsen syndrome is a debilitating, yet rarely encountered condition that requires the specialized management of a multi-disciplinary medical and rehabilitative team. FLN 1 gene mutations are suspected to be underdiagnosed and will continue to present with a variety of unique phenotypic impairments requiring treatment in the inpatient rehabilitation setting. We present this case of Larsen Syndrome to highlight the importance of diagnostic familiarity and approaches to rehabilitation of individuals living with FLN 1-associated conditions.

Academic Level

medical student

Mentor/PI Department

Neuroscience

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