Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...

Pemphigus foliaceus is a chronic autoimmune disease of the skin, clinically characterized by scaly and crusty cutaneous erosions involving the seborrheic areas. The patient can eventually become erythrodermic. There are reports of atypical cases of pemphigus foliaceus with pustules and neutrophils, and clinical differentiation from generalized pustular psoriasis of von Zumbusch is difficult. We...

Choroid plexus papilloma is a rare benign tumor accounting for 0.5% of all intracranial tumors. The majority of choroid plexus papillomas occur during the first 2 years of life in the ventricular system. Moreover, dense calcification of the tumor is uncommon. We report an adult case of densely calcified, atypical choroid plexus papilloma that originated from the cerebellopontine angle without c...

The time course of categorization was investigated in four experiments, which revealed graded competitive effects in a categorization task. Participants clicked one of two categories (e.g., mammal or fish) in response to atypical or typical exemplars (e.g., whale or cat) in the form of words (Experiments 1 and 2) or pictures (Experiments 3 and 4). Streaming x, y coordinates of mouse movement tr...

OBJECTIVE: Fatty liver deposition is a very common finding, but it has many atypical patterns of distribution that can represent diagnostic pitfalls. The purpose of this pictorial essay is to review different patterns of fatty liver deposition and sparing. METHODS: We searched our archive retrospectively, reviewed the literature, and identified six patterns of liver steatosis. RESULTS: Steato...

BACKGROUND Atypical forms of pyoderma gangrenosum generally appear on the upper extremities; most frequently they are associated with myeloproliferative disorders, including osteomyelofibrosis. A response to systemic steroids is more pronounced than in classical form. Sometimes it may be the first sign of an underlying malignancy. CASE REPORT We reported a patient with atypical pyoderma gangr...

Haemolytic Uraemic Syndrome (HUS) is a rare and severe form of thrombotic microangiopathy associated with poor renal prognosis. Approximately 10-20% the diagnoses atypical Uremic (aHUS) are related to pregnancy. Pregnancy acts as trigger for aHUS, especially in setting preeclampsia haemorrhage. It should be differentiated from other similar conditions such preeclampsia, HELLP syndrome, postpartum

Celiac disease (CD) is an autoimmune systemic condition caused by sensitivity to gluten in genetically predisposed patients. The clinical signs of CD are extremely diverse, ranging from the typical intestinal malabsorption syndrome (characterized by chronic diarrhea, abdominal distension and malnutrition) to atypical symptoms that may involve any system or organ: chronic constipation, increased...

Let f C n C be any polynomial function By using global polar methods we introduce models for the bers of f and we study the monodromy at atypical values of f including the value in nity We construct a geometric monodromy with controlled behavior and de ne global relative monodromy with respect to a general linear form We prove localization results for the relative monodromy and derive a zeta fu...

Cogan's syndrome is a rare disorder characterized by ocular and audiovestibular manifestations in its typical form and caries a wide variety of atypical manifestations. It is considered as an autoimmune disease. We present the first case in the literature of a 67 year old woman with the development of low grade non-Hodgkin lymphoma (NHL) in the mastoid bone in a pre-existing history of atypical...