I'm a Neurology Resident from Brazil, and I have a 27-years-old female patient with the following signs/symptoms:
- Cerebelar ataxia (MRI = cerebelar atrophy), since 23yo
- Joint hyperextensibility and hyperelasticity of the skin (various members of her family with the same problem) - Ehlers-Danlos syndrome (waiting for the genetic study)
- Hypoplastic uterus (primary amenorrhea) - transvaginal ultrasound has confirmed.
- Sister has the same three problems.
- Right tympanic membrane perforation since childhood (trauma?)
I have read some articles with the association of Ehlers-Danlos syndrome and ataxia, but i have not found the association with hypoplastic uterus. Is this a new genetic disease or a new feature of Ehlers-Danlos syndrome?
Know the five types of psoriasis and how to spot flares.
Newer diabetes treatments can suppress appetite and aid weight loss.
Try these tips to get your salivary glands back into action.
Constipation is a common side effect of opioid and narcotic pain medicines.
Is it sensitive skin or something else?