Hepatosplenic Cat Scratch Disease: Description of Two Cases Undergoing Contrast-Enhanced Ultrasound for Diagnosis and Follow-Up and Systematic Literature Review.

Cat scratch disease (CSD) is a disease usually characterized by self-limited lymphadenopathy of the young man. Rarely CSD, however, can manifest itself as an unusual hepatosplenic form (HS-CSD) in immunocompetent patients. HS-CSD diagnosis is generally based on clinical features, imaging, and serologies, but sensitivity of serologies is very variable, like that of other diagnostic methods, as Warthin-Starry silver stain and isthology. Also there are no specific markers for the follow-up. The use of the CEUS (abdominal contrast-enhanced ultrasound) in HS-CSD is not previously described in literature examined, but we think that CEUS can be of help to diagnosis and follow-up of these patients, even after an initial CT scan, because it is a sensitive method, as seen in other diseases associated with granulomas, such as sarcoidosis. We describe 2 new cases of HS-CSD, and we performed a systematic review of the clinical cases reported in the past 10 years in the literature associated to an analysis of clinical, diagnostic, and therapeutic aspects of the disease.

Efficacy of Corticosteroids Alone in the Eradication of Factor VIII Inhibitor in an Old Female with Idiopathic Acquired Haemophilia A: Description of a Case.

Acquired haemophilia A (AHA) is a rare and serious disorder mainly affecting elderly patients. It is caused by the production of autoantibodies directed against coagulation factors; patients present with spontaneous bleeding, potentially fatal, in the absence of familial or personal history. Autoimmune disorders, infections, solid and hematologic tumors, and drugs are predisposing factors, but up to 50 percent of cases remain unexplained. The diagnosis of AHA is confirmed by specific laboratory tests; and the therapy is a clinical challenge, due to the fact that older patients are often affected by comorbidities. By passing agents may be used when persistent bleeding or haemodynamic instability is observed; corticosteroids, alone or with immunosuppressive therapy, are necessary to inhibit the production of the autoantibodies. We describe a case in which steroids in monotherapy successfully, safely, and persistently inhibited the production of anti-Factor VIII antibodies, in an old patient admitted after rheumatologic consult.

A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome.

BACKGROUND: Liddle's syndrome (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young hypokalemic hypertensives. The aims of the study were: (i) to evaluate the clinical phenotype of LS in a newly identified Italian family of Sicilian origin carrying a gain-of-function mutation of the ß subunit of the epithelial sodium channel (ENaC) (P617L) previously reported by our group in an apparently unrelated Sicilian patient presenting the typical phenotype of LS including hypokalemia; (ii) to determine whether an unknown biological relationship exists between the newly identified family and the family of the proband previously reported. METHODS: Genetic analysis was performed in the present family, in the individual in which the ßP617L mutation was first observed, and in his relatives. RESULTS: ßP617L mutation was identified in the proband and in three maternal relatives. None of them showed hypokalemia. Mild to severe early onset hypertension and left ventricular hypertrophy were present in all of them. Analysis of mitochondrial DNA (mtDNA) and Y chromosome profiles in the present family and in the proband's family previously reported showed the absence of a relationship between them. The availability of only one carrier of the mutation in one of the two families meant that a genetic analysis able to assess a founder effect was not feasible. CONCLUSIONS: LS should be considered in all cases of early onset hypertension, independently of the plasma potassium concentration. The incidence of LS may be greater than is currently thought, because hypokalemia is not invariably present.