Splenic abscesses in childhood brucellosis: a case-based review.

OBJECTIVE: Human brucellosis is a zoonosis with an extremely wide spectrum of clinical manifestations. Focal splenic involvement is very uncommon, particularly in the pediatric age group, during the illness' acute phase. CASE REPORT: A 4-year-old boy, already receiving third-generation cephalosporin treatment, was transferred from a local hospital to the University Pediatric Department for fever, anemia, increased inflammation index, and multiple, hyper-echogenic splenic lesions on abdominal ultrasound. Initial diagnostic laboratory investigations for Brucella infection, including the Widal-Wright test, were found to be negative. However, further diagnostic laboratory analysis using the chemiluminescent immunoassay was positive for Brucella IgM antibodies. Treatment with rifampicin at a dose of 150 mg/Kg/twice daily and co-trimethoprim at a dose of 80 mg/Kg/twice daily was started and continued for 7 weeks. IgM antibodies were undetectable after 2 weeks of treatment, and after 6 weeks of treatment, abdominal ultrasound documented a reduction of the diameter of the major splenic infiltrate from 1 to 0.5 cm. At 3 and 5 months of follow-up, re-evaluation of the abdominal lesions displayed complete resolution of the splenic lesions and a complete clinical recovery. CONCLUSIONS: The present case and a literature review are presented in this study since a standard diagnostic laboratory evaluation for brucellosis may miss the diagnosis, and in suspected cases, the laboratory analysis should be extended. Splenic abscesses are known to be rare in brucellosis, but the diagnosis should be considered in children with severe focal lesions, as specific antibiotic treatment may result in complete clinical recovery.

Radiofrequency versus microwave ablation for treatment of the lung tumours: LUMIRA (lung microwave radiofrequency) randomized trial.

The LUMIRA trial evaluated the effectiveness of radiofrequency (RFA) and microwave ablation (MWA) in lung tumours ablation and defining more precisely their fields of application. It is a controlled prospective multi-centre random trial with 1:1 randomization. Fifty-two patients in stage IV disease (15 females and 37 males, mean age 69 y.o., range 40-87) were included. We randomized the patients in two different subgroups: MWA group and RFA group. For each group, we evaluated the technical and clinical success, the overall survival and complication rate. Inter-group difference was compared using Chi-square test or Fisher's exact test for categorical variables and one-way ANOVA test for continuous variables. For RFA group, there was a significant reduction in tumour size only between 6 and 12 months (p value = 0.0014). For MWA group, there was a significant reduction in tumour size between 6 and 12 months (p value = 0.0003) and between pre-therapy and 12 months (p value = 0.0215). There were not significant differences between the two groups in terms of survival time (p value = 0.883), while the pain level in MWA group was significantly less than in RFA group (1.79 < 3.25, p value = 0.0043). In conclusion, our trial confirms RFA and MWA are both excellent choices in terms of efficacy and safety in lung tumour treatments. However, when compared to RFA therapy, MWA produced a less intraprocedural pain and a significant reduction in tumour mass.

Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs. the classical adult (Gardner type) NF2, with bilateral VSs presenting in young adulthood, sometimes as the only disease feature]. Some individuals can develop unilateral VS associated with ipsilateral meningiomas or multiple schwannomas localised to one part of the peripheral nervous system [i.e., mosaic NF2] or multiple non-VS, non-intradermal cranial, spinal and peripheral schwannomas (histologically proven) [schwannomatosis]. NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin (ERM) proteins; mosaicNF2 is due to mosaic phenomena for the NF2 gene, whilst schwannomatosis is caused by coupled germ-line and mosaic mutations either in the SMARCB1 gene [SWNTS1; MIM # 162091] or the LZTR1 gene [SWNTS2; MIM # 615670] both falling within the 22q region and the NF2 gene. Data driven from in vitro and animal studies on the merlin pathway [e.g., post-translational and upstream/downstream regulation] allowed biologically targeted treatment strategies [e.g., Lapatinib, Erlotinib, Bevacizumab] aimed to multiple tumour shrinkage and/or regression and tumour arrest of progression with functional improvement.

A case of postvaricella cerebral angiopathy with a good outcome in a child.

Cerebral vasculopathy is a serious but uncommon complication of varicella-zoster-virus (VZV) infection. Diagnosis is based on a recent history of VZV infection, signs and symptoms of transient ischemic attack or stroke, and vascular anomalies on neuroimaging. We report a case of postvaricella cerebral angiopathy in a 5-year-old child, who was admitted after three episodes of transient right hemiplegia, each one lasting a few minutes. He had contracted chicken pox, the month prior to admission. Brain magnetic resonance imaging showed hyperintense signals in the left lenticular and caudate nuclei, which can be considered to be a result of vasculopathy.

Patients' survival in lung malignancies treated by microwave ablation: our experience on 56 patients.

OBJECTIVES: We retrospectively evaluated percutaneous CT-guided microwave (MW) ablation safety and efficacy in unresectable lung malignancies focusing on patients' survival. MATERIALS AND METHODS: All procedures were approved by the hospital ethical committee. From 2008 to 2012 we treated 69 unresectable lesions (44 lung cancer, 25 lung metastases) in 56 patients (35 men/21 women; mean age: 61.5 years). Treatment was performed under CT guidance using 14 G needles with a 3 cm active tip and a 55 W MW generator (Vivawave Microwave Coagulation System; Valley Lab). Treatment was performed at 45 W for 6-10 min. Patients were scheduled for a 3 and 6 month CT follow-up to evaluate lesion diameter and enhancement. Survival rate was evaluated by Kaplan-Meier analysis. RESULTS: Ablation procedures were completed according to protocol in all patients. Pneumothorax occurred in 18 patients and 8 required chest tube. Four lesions (all >4.3 cm) were retreated 20 days after the ablation because of peripheral focal areas of residual tumor. Follow-up CT evaluation showed a decrease in maximum diameter in 44/69 lesions (64%) and in 42/59 lesions (71%) at 3 and 6 months, respectively. In all cases no pathologic enhancement was observed. Cancer-specific mortality yielded a survival rate of 69% at 12 months, 54% at 24 months and 49% at 36 months, respectively. An estimate mean for survival time was 27.8 months with a standard error of 2.8 months (95% confidence interval: 22.4-33.2 months). CONCLUSION: Based on our experience, MW ablation seems to represent a potential safe and effective percutaneous technique in the treatment of lung malignancies. MW ablation may improve survival in patients not suitable to surgery.

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of chromosome Xq22.1. Further analysis demonstrated that the deletion was inherited from her mother who showed mild MR, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder. Microsatellite segregation analysis revealed that the rearrangement arose de novo in the mother on the paternal X chromosome. The deleted Xq22.1 region contains part of the NXF gene cluster which is involved in mRNA nuclear export and metabolism. Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells. The dosage imbalance of NXF5 and NXF2 genes may explain the severe phenotype in our patient.

Fibrous hamartoma of infancy of the labium majus: a typical lesion in an unusual site.

Fibrous hamartoma of infancy is a soft tissue subdermal fibromatous tumour that characteristically occurs in the first years of life. It is histologically composed of three different components that are intimately admixed: well-defined bundles of fibro-myofibroblastic spindle-shaped cells, nodular proliferations of immature-looking mesenchymal cells set in a myxoid stroma, and mature adipose tissue. A wide intralesional and interlesional cellular composition is commonly observed. Fibrous hamartoma of infancy usually arises from subcutaneous tissue of the trunk, axilla, upper extremities and inguinal region. Only rarely has fibrous hamartoma of infancy been reported in genital organs, with only one case described in the labium majus. We report a rare case of fibrous hamartoma of infancy in the labium majus of a 1-year old female child. Ultrasonography revealed the presence of a mass-like lesion involving subcutaneous tissue, with ill-defined margins. We emphasize that fibrous hamartoma of infancy should be included in the differential diagnosis of soft tissue tumour-like and tumour lesions of the vulva in children. Awareness that fibrous hamartoma of infancy occurs at this site with irregular margins is important to avoid confusion with other lesions exhibiting a more aggressive behaviour.

Transient bilateral Basal Ganglia lesions in rotavirus encephalopathy. A case report.

Rotavirus gastroenteritis may be associated with the onset of an acute reversible encephalitis. We describe a case of transient bilateral basal ganglia lesions after a prodromal gastroenteritis which completely resolved four months later. Diffusion weighted images were determinant to depict the basal ganglia abnormalities and were helpful to evaluate the prognosis. A review of the literature indicates that many diseases may be accompanied by signal abnormalities within the basal ganglia and that differential diagnosis is possible only through the simultaneous evaluation of imaging, clinical and laboratory findings.

MR-Cisternography with T2-Weighted Single-Shot Fast Spin Echo Sequence in the Diagnosis of a Spontaneous CSF Fistula of the Sphenoid Sinus Causing Massive Pneumocephalus.

A spontaneous CSF fistula of the sphenoid sinus was preoperatively diagnosed in a young woman presenting with massive pneumocephalus and rhinorrhea. Diagnosis was established by MR cisternography using a heavily T2-weighted 3D single-shot FSE sequence with half-Fourier analysis (3D-EXPRESS(®)), originally developed for imaging the inner ear. While unenhanced CT failed to detect the site of the fistula, MR permitted complete evaluation of the sellar/sphenoid region and tracked the CSF signal down to the nasal cavity.

Radiofrequency ablation of bone metastases induces long-lasting palliation in patients with untreatable cancer.

INTRODUCTION: In oncological patients, life quality can be greatly impaired by the presence of painful bone metastases, as standard forms of treatment often achieve inadequate palliation. The aim of our study was to evaluate the clinical efficacy of radiofrequency ablation (RFA) with respect to pain relief in patients with refractory bone metastases or who are ineligible to conventional treatments. METHODS: 12 patients with 13 painful osteolytic skeletal metastases, and who were unresponsive to analgesic drug therapy, underwent one (seven lesions) or two (five lesions) RFA sessions under computed tomography (CT) guidance. The RFA procedure was completed in all patients without complications. One patient also received cementoplasty after the RFA procedure. To obtain semiquantitative pain scores, the brief pain inventory (BPI) was administered before treatment and during follow-up. The local effects of RFA were monitored for at least one year in eight of 12 patients with CT and/or magnetic resonance imaging. RESULTS: Immediate pain relief after treatment was experienced by nine of 12 patients, but in two cases, pain recurred within the first week. Long-lasting palliation was obtained in seven of 12 patients. BPI mean scores for worst and average daily pain decreased from 7.7 and 5.0, respectively, at baseline, to 3.1 and 1.8, respectively, at one year. Imaging follow-up showed large areas of necrosis in nine of 12 lesions. CONCLUSION: In our preliminary experience, RFA showed good and long-lasting efficacy for pain control in bone metastases. A possible role of RFA as a coadjuvant palliative treatment in these cases is suggested.

Acute Encephalitis of Unknown Etiology: Early Diagnosis and Follow-up of Disease Evolution. MRI. A Pictorial Essay.

Two women with viral encephalitis of unknown etiology were studied with serial MR studies at 1.5 Tesla using: Spin-Echo (SE) T1-weighted (T1w) sequences before and after i.v. administration of paramagnetic contrast agent, with/without magnetization transfer (MT), Fast SE and Fluid-attenuated Inversion Recovery (FLAIR) T2-weighted sequences, Echo-Planar Single-Shot sequences for the assessment of water diffusivity (Diffusion Weighted, DW, and Apparent Diffusion Coefficient maps, ADC). The DW and T1w sequences with MT after contrast were most useful to detect the initial pathologic alterations, thereby reinforcing the clinical diagnostic hypothesis and prompting appropriate drug treatment, even if the laboratory data were not conclusive for viral etiology. In a later phase, both cases showed MR evidence of lacunar foci in the grey matter, and cortical laminar necrosis, probably indicating a concomitant hypoxic/ischemic mechanism.

The Color Doppler with contrast agent US in the study of post Cholecistectomy Syndrome.

PURPOSE: The aim of this study was to evaluate the study of intra- and extra-biliary ducts by contrast-enhanced colour-Doppler in patients who have undergone laparoscopic cholecystectomy. MATERIALS AND METHODS: Contrast-enhanced colour-Doppler US was performed in 15 patients who had undegone laparoscopic cholecystectomy. The US contrast agent was introducted into the Kehr or Pedinelli tube to allow visualisation of the bile ducts and duodenum. RESULTS: The colour-Doppler study enabled visualisation of the contrat agent in the intra- and extra-hepatic bile ducts and in the duodenum in all patients, thereby permitting the accurate study of the post-operative course. The data obtained were confirmed by conventional radiology. CONCLUSIONS: The advantages of this US ultrasound technique are the complete absence of ionising radiation and no intolerance to the US contrast agent. This technique could therefore be used in selected patients as an alternative to trans-Kehr and trans-Pedinelli cholangyography.

Acute myocardial infarction in a patient with unstable angina.

A 58-year-old-man with unstable angina developed a violent retrosternal and interscapular pain during coronary angiography with no associated ECG abnormalities. The patient was immediately submitted to transesophageal echocardiography, which revealed an echo-free space behind the ascending aorta thought to be consistent with an aortic dissection. To confirm this finding the patient underwent contrast-enhanced helical CT, which ruled out a dissection but revealed a small hypoattenuating, ill-defined area within the lateral wall of the left ventricle, consistent with an acute myocardial infarction. The finding was first confirmed by bedside echocardiography and later validated by laboratory tests. Review of the left coronary angiogram showed the culprit lesion at the origin of a major acute marginal branch of the circumflex artery.

The prognostic value, in active ulcerative colitis, of an increased intensity of colonic perivisceral fat signal on magnetic resonance imaging with ferumoxil.

OBJECTIVE: In active ulcerative colitis (UC), magnetic resonance imaging (MRI) with ferumoxil, a superparamagnetic oral contrast agent, accurately evaluates, in our experience, the increased wall thickness and frequently shows a stronger perivisceral fat signal intensity (PFSI). The aim of our study was to evaluate the clinical significance of these MRI findings in active UC. METHODS: Twenty-four consecutive patients affected by moderate pancolitis were enrolled. At entry, each patient underwent MRI with ferumoxil to evaluate wall thickness and PFSI. Two groups of patients were individuated: group A (increased PFSI) and group B (normal PFSI). After obtaining remission, the number of relapses and, at each flare-up, the clinical activity index (CAI) were evaluated in all patients in a 2-yr follow-up period. The mean CAI was calculated at the end of the follow-up in each patient. Where there was colectomy, a complete histological examination of the colon was performed. RESULTS: PFSI was increased in 16 patients (group A) and was normal in the remainder (group B). There was a significant difference of wall thickness, number of relapses/yr, and mean CAI between the two groups of patients. No difference was observed with regard the duration of disease. Six patients of group A and no patient of group B underwent colectomy. The histological evaluation showed an increased thickness of the entire colonic wall with significant changes of the perivisceral fat structures. CONCLUSIONS: An increased

Effect of diabetes on some primitive reflexes.

Primitive reflexes (PRs) are present in newborns; they disappear as the brain matures and increase in frequency in healthy elderly individuals. Primitive reflexes are more frequent in some neurological disorders than in age-matched controls. The aim of this study was to investigate the effect of diabetes on some PRs. We examined three PRs (glabellar tap, snout and palmomental reflexes) in 376 subjects: 111 normal age-matched controls, 60 patients with cerebrovascular disease (CVD) and 205 patients with type 2 diabetes mellitus. The latter patients were divided into three groups: (1) diabetics without neurological complications (D); (2) diabetics with cerebrovascular disease (D-CVD); and (3) diabetics with polyneuropathy (D-PN). The frequency of PRs was increased in CVD, unchanged in D-CVD (except palmomental) and greatly reduced in D and D-PN. It is possible that the vascular lesions in perforating arteries of the pons in diabetic subjects, previously studied in some pathological reports, can account for the reduced occurrence of primitive reflex responses.

Magnetic resonance imaging with ferumoxil, a negative superparamagnetic oral contrast agent, in the evaluation of ulcerative colitis.

OBJECTIVE: The introduction of new oral contrast agents that enhance image quality has increased the importance of magnetic resonance imaging (MRI) in the management of ulcerative colitis. The aim of our study was to investigate the usefulness of a new negative superparamagnetic oral contrast (ferumoxil) alone or in association with gadolinium i.v. in the assessment of the disease. METHODS: Twenty-eight patients with clinically active ulcerative colitis and 10 control subjects entered the study. In each patient a clinical, endoscopic, histological, and MRI evaluation was performed. In particular, in 14 patients affected by ulcerative colitis (group A) and in five controls, magnetic resonance images were acquired 1 h after the oral administration of 900 ml of ferumoxil, while the remaining 14 patients (group B) and five controls were submitted to double-contrast MRI (ferumoxil and gadolinium). In both groups, wall thickness, length of affected bowel segments, and, in group B, also percent contrast enhancement were calculated. RESULTS: The comparison of endoscopic and MRI extent of disease was statistically significant. Wall thickness and, in group B, also percent contrast enhancement were significantly correlated with clinical and endoscopic activities. In each group wall thickness was significantly different in the activity phases of the disease. CONCLUSIONS: MRI with negative superparamagnetic oral contrast is comparable to endoscopy in the assessment of ulcerative colitis. The double-contrast imaging does not provide more information than single oral contrast, so we concluded that the latter is preferable in the follow-up of the disease and in patients unable or with a poor compliance to undergo endoscopy.

Long-term effect of a single dose of flunarizine in Huntington's disease.

We report a preliminary pilot study on the clinical efficacy of flunarizine (FNZ), a calcium-entry blocker that causes extrapyramidal side-effects, in 10 patients with Huntington's disease (HD). FNZ (20 mg) administered by the sublingual route resulted in a decrease in choreic movements and improved dexterity in performing several tests. These effects lasted for at least 7 days after a single dose. Therefore, FNZ seems to exert the same effect as a long-acting neuroleptic agent in our HD patients.Copyright Lippincott-Raven Publishers

[Role of fine needle biopsy guided with computerized tomography in peripheral lung nodules with a diameter lower than 2 centimeters]. / Ruolo della biopsia con ago sottile guidata con tomografia computerizzata nei noduli polmonari periferici con diametro inferiore a due centimetri.

We investigated the role of CT in guiding fine-needle biopsy (FNB) in small (< 2 cm phi) lung lesions, reviewing 2109 CT-guided biopsies of peripheral lung nodules performed 1983 to 1993. "Peripheral" refers to non intrabronchial lesions, independent of the nodule position in the chest. Two hundred lesions < 2 cm phi were selected, 52 of them with complete clinical and surgical follow-up. This group was compared with 195 lung lesions > 2 cm phi for CT-guided FNB sensitivity, specificity and diagnostic accuracy. Cytologic specimens were positive for malignancy in 40/52 cases (76.9%) and negative in 12 (23.1%). Clinical-surgical follow-up confirmed all the positive cytologic findings (40 cases), while 2 of the extant 12 cases were false negatives (95.20% sensitivity, 100% specificity and 96.15% diagnostic accuracy). 158 of 195 nodules > 2 cm phi and with clinical-surgical follow-up (81.3%) were positive for malignancy and 34 were negative (17.43%) (98.75% sensitivity, 97.14% specificity and 98.46% diagnostic accuracy). Pneumothorax occurred in 33 patients (16.5%) with nodules < 2 cm phi as a complication of biopsy. Hemoptysis occurred in 15 patients (7.5%). In the whole group of lung lesions, the complications were pneumothorax in 80 patients (4.1%), hemoptysis in 199 (10.4%) and hypotensive vagal crises in 92 patients (4.8%). We conclude that CT is the best guidance for FNB also in small lung nodules, providing high sensitivity and specificity and low complication rates. Finally, the result of this procedure depends on the operator's skills.