Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

Background: Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.

Methods: All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. Electroneuromyography was performed in selected cases.

[Susac syndrome].

Susac syndrome is a mysterious vasculopathy affecting brain, retina and inner ear in young women. Main features of the disease are increasingly recognized: subacute encephalopathy often mimicking psychosis and frequently heralded with unusual ophthalmic migraine; frequent subclinical meningitis; brain MRI with multiple and bilateral white and gray matter nuclei lesions, with prominent involvement of corpus callosum; bilateral involvement of central retina artery branches, not only with occlusions but also with peculiar leakage of fluorescein through arteriolar walls on late stages of angiography; non-specific bilateral cochleovestibular symptoms with audiogram showing perception hypoacousia that predominates on low frequencies. Outcome, prognosis, pathogenesis and a rational basis for treatment are discussed in this review.

Brachial plexus birth palsy shoulder deformity treatment using subscapularis release combined to tendons transfer.

Introduction: One possible sequela of obstetric brachial plexus palsy (OP) is impaired external rotation (ER) of the shoulder which, in addition to its functional consequences, can generate a posterior humeral head subluxation or dislocation. The goal of the present study was to assess medium-term clinical and radiological results of release of the subscapularis muscle with transfer of the latissimus dorsi and teres major muscles.

Patients And Methods: From 1985 to 1995, a continuous series of 32 OP patients underwent subscapularis muscle release, associated in 24 cases to muscle transfer.

Long-term outcome in Susac syndrome.

Susac syndrome is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions, mostly in young women. To our knowledge, long-term outcome and impact of pregnancy have not been specifically addressed. We report a series of 9 patients (7 female, 2 male) followed at the same institution, with special emphasis on clinical outcome including pregnancy and long-term sequelae.