Abstract
The Marshall Smith Syndrome (MSS) is a rare congenital disorder, displaying a constellation of unique symptoms, including orofacial dysmorphisms, accelerated osseous maturation and dysplasias, mental retardation, and respiratory maladies. Few individuals with MSS survive past early childhood. In this case report, we describe a unique treatment for a 30 year-old patient with MSS who presented to our pain medicine clinic for management of pain secondary to uncontrolled bilateral hip dysplasias.
Highlights
The Marshall-Smith Syndrome was first described in 1971 by Marshall et al as a rare congenital disorder, and to date there are fewer than 40 reported cases [1,2,3]
The etiology is unknown but is presumed to be due to a de novo dominant mutation. It is characterized by a constellation of features involving the neurologic and respiratory systems, and accelerated skeletal maturation leading to skeletal dysplasias
We report a unique treatment of incapacitating bilateral hip pain in a 30 year-old Marshall Smith Syndrome (MSS) patient with intra-articular hyaluronate (Hyalgan©)
Summary
The Marshall-Smith Syndrome was first described in 1971 by Marshall et al as a rare congenital disorder, and to date there are fewer than 40 reported cases [1,2,3]. We report a unique treatment of incapacitating bilateral hip pain in a 30 year-old MSS patient with intra-articular hyaluronate (Hyalgan©). The parents were hesitant to pursue this option, in light of their daughter’s previous surgical experience, wherein she required an emergency tracheostomy after failed attempts at securing her airway under anesthesia Because they were told that future surgeries would require an “awake” tracheostomy for airway protection during surgery, they decided to seek alternative, non-surgical treatments for their daughter’s hip pain. Based on the patient’s history, physical examination, and radiographic findings, our impression was that the patient’s symptoms arose directly from the articular surfaces of her hips, and possibly from the bilateral impingement of her lateral femoral cutaneous nerves, as a result of her inadequately developed acetabula and subluxed femurs. The patient returned to our clinic for a total of three injections of Hyalgan©, separated by one week
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