Q. My little child has ataxia, hypotonia, seizures, and dysphagia. What could it be?
Hello doctor,
My 16-month-old presents with intermittent limb weakness, hemiplegia, gait disorder, dysphagia, intermittent ataxia, brisk reflexes, seizures, and intermittent hypotonia. There are sudden bouts of alternating limb paralysis. There is sudden difficulty with balance and walking with falls every few steps. The baby is seemingly dizzy. There is dysphagia with no etiology. There is a paroxysmal tonic upgaze. The doctor has prescribed Diamox for ataxia today. The baby has a normal CBC, CMP, and CSF. I also have attached the spinal and brain MRI images here. I need a second opinion.
Hello,
Welcome to icliniq.com.
I have gone through the images which you have sent (attachment removed to protect patient identity).
- There are a fluid signal intensity and a short segment abnormality in the cervicothoracic part of the spinal cord which is likely representing a syrinx between C7 and T1 vertebrae levels. This might cause the neurological symptoms in the child as mentioned in your query.
- I would like to hear what has been told by your doctor regarding an episodic ataxia with regards to the MRI images and clinical examination.
Regards.
For more information consult a radiologist online --> https://www.icliniq.com/ask-a-doctor-online/radiologist
Thank you doctor,
The doctors mentioned there was hydromyelia, but are convinced that it is not causing his symptoms. They said his ataxia is a suspect for episodic ataxia. So, they are putting in a request for the genetic panel to confirm. The next suspected diagnosis on the list is an opsoclonus-myoclonus-ataxia syndrome. So, we are watching for eye movements. Is there any chance that the syrinx or the hydromyelia could be a neuroblastoma or anything else? How would you suggest confirming? Is there any treatment?
Hello,
Welcome back to icliniq.com.
- It is true that a genetic workup might help to confirm an episodic ataxia. The suggestion from your doctors is acceptable.
- The condition, opsoclonus-myoclonus-ataxia syndrome, is usually found around 18 months of age. This is a rare disease and complete manifestations on imaging are not well detailed. Making a diagnosis of this condition involves eliciting clinical signs. Therefore, we need to carefully monitor the clinical signs in your child.
- On the contrary, the syrinx is not enhancing and this usually excludes any active neoplasm.
- I suggest you get an abdominal ultrasound scan done for your child if requested by your doctor.
Regards.
For more information consult a radiologist online --> https://www.icliniq.com/ask-a-doctor-online/radiologist
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