Discussions By Condition: I cannot get a diagnosis.

Differential diagnosis

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: fabi_ig
  • August 4, 2008
  • 10:23 AM

Dear all,
I am a Physician (Cardiology specialist) and I am taking care of a 46-year-old woman and her 22-year-old son, who both suffer from a severe disease caracterized by severe bone and muscle pain, diffuse muscle weakness, joint hyperlaxity, gastrointestinal disorders, juvenile cataract, short PR interval on ECG and paroxysmal atrial fibrillation.
Some colleagues suggested me the Ehlers-Danlos syndrome, the progeria subtype, or the De Barsy syndrome.
Nonetheless, I made some research and I found that mental retardation should be present in both those suggested syndromes. The two patients have an absolutely normal QI.

The following are my two questions:
- Is the mental retardation always present in Ehlers-Danlos-progeria syndrome and De Barsy syndrome?
- as the main symptom of the two patients is muscular and bone pain, does it fit with a possible diagnosis of Ehlers-Danlos progeria-type or De Barsy?

Thank you very much for your help.

The personal history of the two patients is very long. However, if there is someone that feels to be able to help me, I can send the medical report with all the details.

Best rgards,
fabi_ig

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