Degeneração lipoidica do neuro-eixo: An atypical form or Amaurotic Family Idioty

A Congenital Form of Amaurotic Family Idiocy.

SINCE the original description of Tay-Sach's disease in the eighties of the last century a group of allied nervous disorders has become recognized, the common pathological feature of which is a ubiquitous distention of the nerve cells with granules of a lipoid nature. Apart from a few anomalous forms it is customary to classify these amaurotic family idiocies according to the time of onset of t...

Granulomatous skin disease with a histological pattern of palisading granuloma – an atypical facial necrobiosis lipoidica or more?

Address for correspondence: Anna Rosińska-Więckowicz MD, PhD, Department of Dermatology, Poznan University of Medical Sciences, 49 Przybyszewskiego St, 60-355 Poznan, Poland, phone: +48 61 869 1366, e-mail: [email protected] Received: 4.04.2016, accepted: 28.08.2016. Granulomatous skin disease with a histological pattern of palisading granuloma – an atypical facial necrobiosis lipoidica o...

An atypical form of mucolipidosis III.

We report two sibs showing a very mild form of mucolipidosis III with no clinical signs but isolated involvement of the hip and very mild abnormalities of the spine. This indicates that a storage disease, in particular mucolipidosis III, should be considered in any case of isolated bilateral hip dysplasia. The differences from other reported atypical variants of mucolipidosis III are discussed.

Juvenile and late forms of amaurotic idiocy in one family.

Performance of electrophysiologic study in an asymptomatic patient with type 2 intermittent Brugada syndrome: To do or not to do?

Background: Brugada syndrome (BrS) is an inherited channelopathy, which is associated with sudden cardiac death due to rapid polymorphic VT or VF. There is no definite consensus regarding the management of asymptomatic patients. Some experts advocate close follow-up; others propose the programmed stimulation for risk stratification. We aimed to evaluate the benefit of complete atrial and ventri...