P-055 - (Poster #55) Skeletal Dysplasia and Carpal Tunnel Syndrome: A Case Report

Background: Skeletal dysplasias consist of over 400 different groups of genetic disorders that affect about 1 in 5000 births. They involve a constellation of skeletal abnormalities and, among them, abnormal bone development of the hands and wrist are well documented. Skeletal structure malformations commonly present with chronic musculoskeletal pain in this population of patients. However, the neuropathic pain that may be associated with skeletal dysplasia is not well studied. Symptoms of carpal tunnel syndrome have been known to accompany some forms of skeletal dysplasia and may present with or without evidence of profound involvement of the median nerve. In this case study, we explore a case involving a patient with skeletal dysplasia who describes progressive hand paresthesias and exhibits signs of carpal tunnel syndrome.

Purpose/Objectives: The purpose of this case report is to investigate the relationship between skeletal dysplasia and carpal tunnel syndrome. We also aim to analyze the existing literature surrounding this topic and reported cases of associations between skeletal dysplasia and carpal tunnel syndrome as well as other peripheral nerve compressions due to hand and wrist bone abnormalities. Finally, we hope to promote further research and exploration related to these relationships while also encouraging clinicians to consider peripheral nerve compressions as a source of neuropathic pain, particularly in the hand and wrist, among those with skeletal dysplasia.

Methods: A 27 year old right-hand dominant female with a past medical history of skeletal dysplasia presented with one year of bilateral hand pain with numbness and tingling. Following referral from her primary care physician, the patient presented for a carpal tunnel syndrome evaluation. Patient history was obtained and a physical exam was conducted. She has had multiple joint replacements (hips, knees, and ankle), but has no history of any surgery involving her upper extremities). She works as an eyelash technician. She has worn an elbow brace and has not tried physical therapy.The patient had not undergone genetic testing at the time of her visit for carpal tunnel syndrome evaluation. As a result, the specific classification of skeletal dysplasia is unknown. However, previous hand and wrist X-ray findings showed dysplastic changes involving the carpal bones and hypoplastic fourth and fifth metacarpal bones.

Additional diagnostic studies were performed including electrodiagnostic studies and point-of-care ultrasound. Measurements of the median nerve at the carpal tunnel were obtained and compared to existing diagnostic criteria. Investigation of associations between skeletal dysplasia and carpal tunnel syndrome were conducted by online search of article databases and journals for literature reviews on existing research.

Results: On physical examination of the upper extremities, no significant atrophy was noted. Bilaterally, sensation to light touch was intact, manual muscle testing was 5/5, and Tinel’s test of the wrists were negative. Electrodiagnostic studies did not detect neuropathy. Point-of-care ultrasound of the right and left median nerves revealed a circumference of 0.75 cm and 1.17 cm, respectively. The patient was issued a left wrist brace. Activity modification and a home exercise program were discussed. Other recommendations included follow-up with her referring provider and formal occupational therapy if there is no improvement. An extensive search through existing literature for possible associations revealed that several known genetic mutations with specific anthropometric features may predispose an individual to develop compression of the median nerve.

Conclusions/Implications for future research and/or clinical care: Skeletal dysplasia is a broad category of genetic disorders that affect skeletal development and results in innumerable variants of musculoskeletal abnormalities. The consequence of these variations often involve chronic and debilitating pain. While the prevalence of chronic musculoskeletal pain is generously studied, neuropathic pain, especially as a sequelae of nerve compression due to bone abnormalities, is not well researched. This case is an example of carpal tunnel syndrome in a patient with unspecified skeletal dysplasia and encourages research for understanding the concomitant nature of skeletal dysplasia and carpal tunnel syndrome. We hope to encourage practitioners to consider peripheral nerve compression as a source of neuropathic pain, particularly in the hand and wrist. If symptoms do not improve following initial management recommendations, follow-up electrodiagnostic studies, ultrasound imaging, and supplemental studies with higher sensitivities should be considered. This is especially worth considering in forms of skeletal dysplasias that result in bone abnormalities of the hand and wrist.