In 1984, The American Academy of Pediatrics published a position statement on screening for atlanto-axial instability in Down Syndrome. The position of the AAP was that all children with Down Syndrome should have cervical spine X-rays taken prior to participation in Special Olympics. This position statement was revised in 1995. To access the full policy statement go to http://www.interactive.net/~pmay/atlantoaxial.htm or click here .

Virtually all of the research regarding the dangers, monitoring, and management of AAI has been performed by pediatricians. There is very little literature on cervical spine disease in adults with Down Syndrome.

JL was a 65 year old man with a developmental brain disorder secondary to Down Syndrome. Early medical history is not available, however, he was the youngest of eight children. Thus, his mother was probably of advanced maternal age (she died in 1942 when John was 14 years old). He apparently lived with his family until his admission to Hunterdon Developmental Center at the age of 42 years. It is not clear what precipitated his admission to HDC (presumably behavior). He was apparently able to walk about his community for many years without incident; however, for the four years prior to the HDC admission (ages 38 - 42) he did not leave his home and reportedly had episodes of screaming and hand biting. His past medical history was generally unremarkable except for gallbladder disease, cardiac murmer, obesity and arthritis. He was fully ambulatory, was generally competent in the activities of daily living and received only aspirin for arthritis at the time of admission 2/25/70.

Following admission his most significant problems were uncooperative, assaultive and hyperkinetic behaviors. In 1982 he was placed on Mellaril.

Over the next few years he was noted to have asymptomatic ST-T changes on EKG, occasional urinary tract infections secondary to prostatic hypertrophy, and hyperuricemia treated with Zyloprim. In February 1988 he underwent cholecystectomy at Warren Hospital. In 1989 he was placed on a low dose of Haldol (Mellaril discontinued). Cardiomegaly was noted on chest x-ray 5/89. Cervical spine x-rays 3/89 were reported as normal. In 1992 Haldol and Zyloprim were discontinued.

In 1993 he began/ having choking episodes requiring the Heimlich maneuver on occasion. On 11 3/93 he underwent cataract extraction of the right eye with lens implantation at Somerset Medical Center. On 12/8/93 he required a second surgical eye procedure at Somerset Medical Center because of dislocation of the previous lens implant. On 12/14/93 he was seen by the ophthalmologist for inflammation of the surgical eye and was placed on Motrin.

On 1/19/94 he developed frank rectal bleeding and black tarry stool and was transferred to Hunterdon Medical Center for five days. While at HMC he received two units of blood for Hct 21.8. Endoscopy revealed a pyloric channel and gastric antral ulcer. Colonoscopy was unremarkable. He was placed on Zantac 150 mg twice a day. It was felt that the ulcer developed as a complication of NSAID treatment of the inflammatory process of the eye that developed following cataract surgery.

Follow-up EGD was performed at Hunterdon Medical Center on 3/8/94. By 3/13/94 marked intermittant ataxia had developed and he was maintained in a wheelchair with a seat belt to prevent falling. By 3/16/94 he was noted to be weak and lethargic and was transferred to the infirmary unit for observation. He remained awake and alert, but was unable to walk or transfer without assistance. On 3/21/94 Carotid doppler was performed at Warren Hospital and was reported as normal. Initially he appeared to regain strength, ambulating with assistance, and was returned to his residential unit 3/23/94. However, by 3/30/94 he was more flaccid and unable to transfer. Cervical spine x-rays of 3/31/94 revealed significant subluxation of the first and second cervical vertebra with probable fracture of the odontoid process. On 4/1/94 he was transferred to JFK Hospital, Neurosurgical Service. On 4/6/94 surgical exploration revealed a fracture of the odontoid process at the C-2 junction with fragmentation of the body of the odontoid. The cervical spine was stabilized by fusion and wiring of C-1 through C-3.

Post-operatively he developed pneumonia and congestive heart failure. On 5/5/94, because of dysphagia and recurrent aspiration, he received a feeding tube by Percutaneous Endoscopic Gastrostomy. On 5/9/94 he returned to Hunterdon Developmental Center Hospital Unit where he remained on Jevity G-tube feeding. On 6/8/94 he was transferred to Hunterdon Medical Center where he was treated for bilateral pneumonia and MRSA, and returned to HDC 7/1/94. Following return from HMC he developed loose stools which were treated with antidiarrheal drugs and G-tube feeding changes. Stool cultures were repeatedly negative for pathogens and Clostridium Difficile toxins. He was admitted again to HMC 8/14/94 through 8/29/94 with pneumonia and sepsis. He was treated with Vancomycin, Gentamycin and Fortaz. He also received a dopamine drip for hypotension, thought to be secondary to septic shock.

Following return to HDC he continued to have loose stools and to lose weight. Overall he lost approximately 30 pounds from July to September 1994 (usual weight approximately 125 - 130 pounds). His albumin remained extremely low (approximately 2.0 or less). )Yeast was cultured from his stool and was treated with Nizoral (hepatic excretion), but there was no symptomatic improvement. In addition he developed oliguria (thought to be secondary to hypoalbuminemia and hypotension) which did respond to intravenous fluids and diuretics (Lasix and Zaroxolyn), but not to increased G-tube feeding or fluids. "Malignancy" work-up with CEA, alpha fetoproteins, and prostate antigens was negative. G-tube feedings were changed with no response. For approximately one week before he died he was maintained on intravenous fluids with stable SMA-25, CBC's and chest x-rays. On 10/27/94 he became hypotensive and was evaluated at the HMC Emergency Room with no specific etiology found. He returned to Hunterdon Developmental Center 10/27/94 where he was noted to be semicomatose, oliguric (in spite of intravenous fluids) and hypotensive. The semicoma progressed to coma and respirations and cardiac activity ceased.

Final Clinical Impressions:

1. Down Syndrome.

2. Subacute atlantoaxial subluxation with fracture of the odontoid process of the second cervical verterbra.

3. Cervical myelopathy secondary to #2.

4. Paralysis secondary to #3.

5. Recurrent Pneumonia.

6. Feeding gastrostomy.

7. Low output heart failure, with gastrointestinal and hepatic congestion

8. Malabsorption secondary to #7.

9. Weight loss secondary to #8.

10. Coma and death related to #7.

Summary

This was a case of a 65 year old man with Down Syndrome, who appeared to have developed atlantoaxial instability and fracture of the odontoid process following upper GI endoscopic evaluation for drug-induced gastro-intestinal bleeding. Cervical spine Xrays taken 5 years previous to this event were normal.

In our experience there is a high frequency (40%) of cervical spine disease in the aging person with Down syndrome, most commonly degenerative in nature. Degenerative joint disease may result from years of slippage of cervical vertebrae which is in turn secondary to ligamentous laxity known to be a feature of Down Syndrome. Defective collagen may be responsible.

Since adults with Down syndrome are more likely to undergo operative procedures (eg cataract and dental) which require general anesthesia by intubation (thus neck extension) as well as endoscopic diagnostic procedures, physicians need to be aware of the potential risk for cervical spinal cord injury. Philip May MD