ABSTRACT
A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA) of hand movement (HM) in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD) in right eye. Intraocular pressure (IOP) was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA) in right eye and cup disc ratio (CDR) of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS) with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.
ABSTRACT
Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.
Subject(s)
Female , Humans , Middle Aged , Cerebral Infarction , Ehlers-Danlos Syndrome , Embolization, Therapeutic , Fistula , Hemorrhage , Ophthalmoplegia , SeizuresABSTRACT
Niccolo Paganini is the most virtuos violinist of the history of music. He even received the nick name of "the violinist of the evil" for his outstanding skills on stage performance. It has been suggested that he had syphilis and tuberculosis, the commonest diseases of that time, but this hypothesis remains speculative. There are suggestions that he was the victim of iatrogenic mercurial poisoning. Furthermore, his body build suggests the presence of Ehlers-Danlos syndrome which could give him special anatomical conditions allowing him to achieve an amazing level of vírtuousness in his art. We herein review the medical aspects ofthis brilliant musician's life.