Disappearing Shoulder

Chelsea Richardson, MS, ATC, OTC

Dr. Spero Karas – Attending

Dr. Huai Ming Phen – PGY3

Shoulder Anatomy

HPI – 1/14/2020• 42 yr. old right hand dominant male comes to clinic for left shoulder pain (4/10)• Prior history

• Fall from ceiling directly onto left shoulder treated without medical expertise - 10 years ago• Two left forearm fractures, s/p fixation, with resultant ulnar border and progressive left

upper extremity numbness• No significant past medical history

• Progressive loss of range of motion; No physical therapy or injections • Denies infective symptoms such as chills, malaise. No acute episodes of pain

**Of note, we needed an interpreter to speak with the patient

Exam• Inspection: Large effusion• Palpation: Palpable crepitus through passive range of motion of shoulder• ROM

• Flexion: Cannot actively flex past 5 degrees; Full flexion passively, with palpable flail shoulderAbduction: Cannot abduct past 5-10 degreesInternal rotation at neutral: NormalExternal rotation at neutral: 10Internal rotation in abduction: Unable to test, Full passivelyExternal rotation in abduction: Unable to test, Full passively

• Motor Strength• 3+/5 ABD, Flexion• 5/5 biceps, triceps, wrist extension

• Sensation: Numb to light touch and sharp sensation over C5-8 distribution, more marked in ulnar distribution of hand. No pain with passive range of motion

• Stability: Unstable• Special tests: Unable to test

**Normal Right Shoulder Exam

X-Ray

January 30, 2019

February 18, 2019

MRI

Syrinx

Occipital to T3 Syrinx However, neurologist felt this was not

contributing towards his pathologyApril 26, 2019

• AKA Vanishing Bone Disease, Disappearing Bone Disease• Characterized by Osteolysis and the proliferation of lymphatic vessels• EXACT CAUSE UNKNOWN • Bones become infiltrated with lymphatic vessels and are broken down and

replaced by a fibrous band of connective tissue• Error in lymphatic system

• Ribs, spine, pelvis, skull, clavicle, and jaw• Can potentially affect individuals of any age

• Most seen in pelvic for children

Gorham-Stout Disease

• 16% of patients with GSS show Osteolysis of the shoulder girdle with 7.4% starting in the Humerus

• If the spine is affected or Chylothorax develops, mortality rate up to 50%

Gorham-Stout Syndrome (GSS)

200 13% Very Rare

Presenter

Presentation Notes

In this article, the authors analyzed different diagnostic and therapeutic regimes. The 3 patients reported in this article received individualized treatments mainly due to differences in general health conditions, comorbidities, and function claims. 2 were treated conservatively and 1 received a RSA

Imaging

Patient 1: 84 year old femaleConservative

Patient 2: 92 year old femaleConservative

Patient 3: 77 year old femaleReverse Shoulder Arthroplasty

• Radiographic detection of Osteolysis• Exclusion of cellular atypia• Absence of Osteoplastic reaction• Detection of a local progressive growing lesion• Exclusion of an ulcerating growing lesion• Exclusion of a visceral concomitant disease• Positive histological proof of angiomatous dysplasia and proliferation• Exclusion of a hereditary, metabolic, neoplastic, immunologic, or infectious

etiology

GSS Diagnosis

Paget’s Disease Fibrous Dysplasia Hajdu-Cheney Syndrome Generalized Lymphatic Anomaly Winchester Syndrome

• There are no guidelines for the treatment of GSS• Conservative - PT• Reverse Shoulder Arthroplasty• Radiotherapy has been used in cases where surgery is not possible or in

combination with surgery • Pharmaceuticals that inhibit bone resorption & formation of blood and lymphatic

vessels• Bisphosphonates and interferon alpha 2b

**The effectiveness of these therapies are highly variable and inconsistent

Treatment Options

• Severe resorption of left proximal Humeral head likely from prior proximal Humerus fracture

• Pseudoparalysis, with good elbow function• Plan: Conservative Therapy, Avoid strenuous activity, No heavy labor

• Surgery would expose patient to further complications and infection• Complications from surgery would exceed benefit

• Patient returned to clinic on 2/4/2020 with the plan of a TSA by outside provider (Dr. Hui @ Resurgens)

• Patient was referred to Dr. Gottschalk for consultation

Our Assessment/Plan

• CT Impression (2/26/2020)• Absent left humeral head with large surrounding heterotopic ossifications and a large ill-

defined joint effusion. Extensive remodeling with associated sclerosis and peripheral ossification about the glenoid. Large joint effusion with small intra-articular bodies.

• Extensive/severe atrophy of the left shoulder girdle musculature predominantly involving the rotator cuff and deltoid.

• Constellation of findings indicate that the etiology is probably a neuropathic jointprocess/syrinx with bone loss/heterotopic ossifications with denervation.

• Sterility of the ill-defined fluid cannot be assessed by CT and if infection issuspected, ultrasound-guided aspiration is indicated.

• Plan: Not certain that his shoulder is constructible as he would need bone grafting to his glenoid as well as an APC to the proximal Humerus with tendon transfers. Consulting Dr. Wagner for second surgical opinion.

UPDATE – 3/4/2020

• Brunner U, Rückl K, Konrads C, Rudert M, Plumhoff P. Gorham-Stout syndrome of the shoulder. SICOT J. 2016;2:25. doi:10.1051/sicotj/2016015

• Dellinger M, Garg N, Olsen B. Viewpoints on vessels and vanishing bones in Gorham–Stout disease. Bone. 2014 Jun;63:47-52. doi: 10.1016/j.bone.2014.02.011. Epub 2014 Feb 26.

• Gorham-Stout Disease. (2017). Retrieved January 30, 2020, from https://rarediseases.org/rare-diseases/gorham-stout-disease/

• Lymphatic Drainage of the Upper Limb. (2018). Retrieved January 31, 2020, from https://teachmeanatomy.info/upper-limb/vessels/lymphatics/

References