Beyond Achondroplasia

Growing together with Clara

Surgical treatment for cervicomedullary compression among infants with achondroplasia

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Dr. Shimony’s team published on the 17th of February 2015 in the Childs Nerv. Syst. journal, an article about respiratory failure being responsible for most deaths among children with achondroplasia and that it is often related to cervicomedullary compression (CMC). His team presented their experience with early cervicomedullary decompression in infants with achondroplasia.

Methods for this study:

Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included presurgical and postsurgical neurological examinations, MRI scans, and sleep study results.

RESULTS:

– 10 infants were included.

– Ages at surgery were 4 to 23 months (12.5 ± 6.88 months).

– All infants displayed neurological findings prior to surgery, although often subtle

This is a crucial point, once many children don´t show explicit signs of cervicomedullary compression even when it exists already and it´s compromising the medulla at that point.

-All infants underwent a foramen magnum opening with a wide C1 laminectomy.

-Following surgery, 7 patients (70 %) demonstrated improved neurological status, and one displayed neurological deterioration.

-Seven patients demonstrated improved sleep quality 1 year after surgery. These patients had a good or improved neurological status following surgery.

-Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in six children), brainstem distortion in four children (improved in all), and diminished cerebrospinal fluid (CSF) spaces at the level of the foramen magnum in eight children (improved in seven).

-One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated.

This is a risk, among others, when the surgery is done after the medulla has been compromised.

CONCLUSIONS:

Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.

This study reflects your experience with Clara: keeping a regular follow-up has been crucial for her health status at this point.

Clara medical history:

2 months old

First sleep study – Diagnosis: Severe obstructive sleep apnea

Treatment: 6 months CPAP ventilation. Pressure applied: 12 mmHg, during all night sleep.

Showed clear improvements at 8 months old, requiring less time of CPAP mask. Stopped using the CPAP at 9 months old.

9 months old

-Decompression cervicomedullary surgery (after a control MRI. At this point, Clara had no neurologic signs. Four days after she underwent the decompression surgery).

– Tubes placed in both tympanic membranes (ears) after recurrent bilateral otitis media

16 months old

– New set of tubes, T-tubes, in both ears. First set felt off when she was 14 months old. She still has this set, having had just one otitis after this second pair of tubes.

24 months old

-Subdural hematoma diagnosed in a control MRI. Cervical medulla is very well, showing no signs of compression.

Left side of the brain showed an intense compression. Clara had no neurologic sign.

-Neurosurgeons resolutions: 2 admitted need for urgent surgery. Other 2 admitted that it could wait. Clara´s neurosurgeon opinion was to wait with extreme rest.

– 6 months of reduced activity (dropped the kindergarten), staying at home and with several controls transfontanellar ultrasounds.

-After 6 months, 95% reabsortion of the hematoma!!! And back to kindergarten (I will write about this after having images of the last CT scan)

2 Comments

  1. *cheers!* So glad to hear things are so well that she’s going back to kindergarten!!!

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