Neurosurgical Case: Down Syndrome

It’s interesting how much a topic comes to life when you have the pleasure of encountering a real-life case.

Last time, J.’s first week in Internal Medicine allowed him to meet a cheerful, tall, skinny, lanky young man whose feet stuck out the end of the bed. He was in for spontaneous pneumothorax. He’s never failed to consider Marfan Syndrome or fail to look out for the signs of Marfan Syndrome ever since.

Simillarly, J. met a friendly, pleasant young 27-year-old man and his family. The young man in question had Down Syndrome, looked quite normal (not dysmorphic) yet had so many of the associated complications of Down Syndrome that J.’s unlikely to forget them anytime soon. That’s partly because J. also had the opportunity to scrub in to observe and do very, very minor assistance (e.g. cut threads) during his surgery.

Despite his lack of obvious cranial/facial dysmophisms (e.g. hypertelorism, low-set ears, open mouth with protruding tongue), he did have the horizontal palmar crease (“simian crease”) and increased space between the great toe and the second toe. Most of the rest was on his history.


Problem List

1. Congenital Heart Defect
The predominant determinant of early mortality in Down Syndrome children, especially more so in the past when cardiac surgery wasn’t as advanced.

This patient had a mitral valve prolapse on echocardiogram which did not warrant any surgery.

2. Alzheimer’s Disease
Down Syndrome patients live a long time, but many die of Alzheimer’s by the age of 60-70 years. This patient was only 27 years old but was already suffering cognitive decline.

3. Endocrinopathies (Type I Diabetes Mellitus and Hypothyroidism)
The patient has Type I Diabetes Mellitus and hypothyroidism requiring insulin injections and thyroxine replacement therapy. DM is present in 16-20% of Down Syndrome children.

4. Gastrointestinal problems
Patients with Down Syndrome have an increased incidence of gastrointestinal abnormalities like imperforate anus and Hirschsprung disease.

For this patient, at about 10 days of age, he was diagnosed with duodenal atresia and tracheoesophageal fistula for which he underwent surgical correction.

Later on, he developed persistent anaemias believed secondary to celiac disease and was put on a gluten-free diet.

5. Osteoporosis
Postulated to be due to muscular atonia, a more sedentary lifestyle or the multiple co-morbidities, patients with Down syndrome tend to have a lower bone mineral density. It was the case with this patient.

6. Atlanto-axial instability (C1 subluxation on C2)
The patient was walking around with a consistent neck pain. Down Syndrome patients often have a lax transverse ligament on C1 (atlas) which allows it shift on C2 (when it should be tight and allow just rotation), causing instability. Most of these patients walk around for years on end with this condition with only symptoms like neck pain with no or mild neurological deficit and only rarely suffer a shearing of the spinal cord causing death. Because of this instability, before the operation he was intubated while awake and was turned while awake. He was an amazingly cooperative patient who tolerated everything very well.


Procedure

It was not possible to reduce the subluxed C1 vertebra as originally planned. The spinal cord was under a lot of stress, so a complete laminectomy was performed to decompress the spinal cord at the C1 vertebra. The spinal cord had good pulsations. This was followed by spinal fusion by fixing with laminar screws and using bone grafts from C1,2,3 mixed. This was done under intraoperative imaging to guide the drill and the screws. There was no severe arterial bleed (i.e. vertebral artery). Unfortunately, one day after the operation the patient developed pneumonia which was treated with ceftazidine and metronidazole.

Could this be construed as:

7. Immunodeficiency
Due to impaired cellular immunity, patients with Down Syndrome have a 12-fold increased risk of infections, especially pneumonia. The patient was known to have recurrent episodes of pneumonia.

Outcome

While the intraoperative imaging looked good, its limitation as a 2-dimensional form of imaging led the attending to order a CT scan to assess C1/C2. It turned out the C1 screws were too angled due to the attempt to avoid the vertebral arteries and were not fully in laminar bone. Worrying that the screws might themselves compress the spinal cord, a repeat operation was performed the next day, angling the screws fully into the bone despite the patient’s infection to prevent a future lengthy dissection.

The patient recovered well, the pneumonia responded well to antibiotics, he was soon mobilising and was discharged.

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4 responses to this post.

  1. Posted by Steph C on April 22, 2007 at 6:14 pm

    So whats the young mans Prognosis?
    Keep us updated on his pneumonia & discharge. Please.

    Reply

  2. Posted by Steph C on April 22, 2007 at 6:17 pm

    Oh.. sorry.. BTW.. its Patient with Downs syndrome. Instead of Down Syndrome Patient. See the diff? Gotta put the person before the condition. :)

    Steph

    Reply

  3. Thank you. It’s now listed as mentioned, and will be following up the patient. Yes to complete, patient-oriented care!

    Reply

  4. Sorry, I noticed that I hadn’t updated this post in a long time. From my writeup, the long and short of it was that his pneumonia subsequently resolved over the next few days. A CT scan was reordered and showed the revision was in the right place. He was well on discharge. I left London, Ontario shortly after his discharge and was unable to find out about his follow-up.

    Reply

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