-Right ear canal malformation
-C2-3 apparent congenital fusion, concern for single level Klippel-Feil Syndrome
-T3 right lateral hemivertebra causing dextroscoliosis
-T5-T8 non-expansile syrinx
Patient was evaluated by Neurosurgery once the x-rays, CT and MRI were completed. The patient was withheld from contact sports due to risk of spinal cord injury with the syrinx. The patient could participate in baseball if he understood there was still a potential for a significant risk of injury.
The patient chose not to participate in baseball.
This patient’s C2-C3 apparent fusion is concerning for Klippel-Feil Syndrome. Patients with this syndrome typically have:
-A short neck, low hairline and a congenital apparent fusion of any two levels of the cervical vertebrae
-A slight female predominance
-1 in 40,000 newborns
-Altered cervical range of motion including hypermobility and develop degenerative disc disease
Patients may also have associated congenital abnormalities including: scoliosis, spina bifida, elevation of scapula, brain and spinal cord defects, and renal defects.
Bony changes of the head and neck including otologic malformations are also common. Deafness or hearing loss is associated with 20-50% of cases and may be unilateral or bilateral.
The thoracic MRI in this patient revealed a syrinx at levels T5-T8. A syrinx is defined as a fluid filled sac within the spinal cord that contains cerebrospinal fluid.
Causes of a syrinx include:
-Congenital abnormalities such as Chiari malformation, spinal cord trauma, or pressure and blockage of CSF from spinal cord tumor.
-No known cause or predisposing factor.
Progression of a syrinx may lead to destruction of the spinal cord. The patient may begin to exhibit increased pain, weakness, stiffness in the back or legs and changes in sensation. Asymmetric hyporeflexia and muscle atrophy may also be present. The typical age of diagnosis is from adolescence to age 45.
Subsequent imaging identified a right lateral hemivertebra at the T3 level that was causing a dextroscoliosis. Hemivertebrae are usually wedge shaped thus creating an angle of the spine. Midthoracic around T8 are the most common. This malformation reduces the success of bracing and progression in a mature skeleton is unlikely.
This case highlights the importance of the PPE. The purpose of the PPE is to maintain the safety and health of the patient during participation. This patient had previously participated in contact sports without any known complications. In reviewing health history questions, he denied any previous surgeries or previous medical conditions. Per the patient, his abnormal physical exam findings were not discussed at previous PPEs. Purposeful omission or misunderstanding questions can lead to incorrect participation clearance. This patient was disqualified from participation until further work-up could be completed over safety concerns for the athlete. Ultimately the Neurosurgeon held him from contact sports.
Congratulations to the author who paid attention to unusual findings that led to an important diagnosis, and unfortunately for the athlete, disqualification. Chasing the details like this can be hard, especially in mass screening events.
1. ACSM. Pre-Participation Physical Examinations Brochure; 2011, http://www.acsm.org/docs/brochures/pre-participation-physical-examinations.pdf
2. Khilji, Muhammad Faisal. Klippel-Feil Syndrome. Chin J Contemp Neurol Neurosurg. 13; 12, Dec 2013; pages 1049-1050.
3. McMaster, Michael J, David, Charles V. Hemivertebra as a Cause of Scoliosis. The Journal of Bone and Joint Surgery. 68; 4, August 1986; pages 588-595.
4. McGaughran, JM, P Kuna, V Das. Audioliogical abnormalities in Klippel-Feil syndrome. Arch Dis Child 1998; 352-355.
5. Rubin, Michael, MDCM, Syrinx, The Merck Manual Home Health Handbook; 2013, http://www.merckmanuals.com/home/brain_spinal_cord_and_nerve_disorders/spinal_cord_disorders/syrinx.html
6. Sarwark JF, LaBella CR, eds. Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide. Elk Grove Village, IL: American Academy of Pediatrics; 2010:231-234
Return To The Case Studies List.