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?