Brain ultrasound in Canavan disease.

Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.

Hospitalized patients with atrial fibrillation compared to those included in recent trials on novel oral anticoagulants: a population-based study.

BACKGROUND: Nonvalvular atrial fibrillation is associated with a substantial risk of stroke. Novel oral anticoagulants (NOACs) with predictable anticoagulant effect and no need for routine coagulation monitoring have recently shown good results when compared with warfarin in phase III clinical trials. OBJECTIVE: To describe clinical features and pharmacological treatments of a population-based cohort of patients with nonvalvular atrial fibrillation and ascertain whether they are comparable with those included in the three main phase III clinical trials on NOACs. RESULTS: Of the 2,862,264 subjects considered for this study 13,360 patients (0.47%) were recently discharged from the hospital with a diagnosis of nonvalvular atrial fibrillation. Mean age was 76.3 (SD 10.7), 49.8% were men and 64.6% were ≥75 years of age. 50% of patients were treated with warfarin and 44.1% with antiplatelet agents. The proportion of patients on antiplatelet therapy increased with age up to a rate of 54.3% in subjects ≥85 years. 92.9% of the studied cohort was on polypharmacy (mean 8 drugs/patient). Around 20% of the entire cohort was treated with amiodarone, a drug potentially interfering with NOACs, and 3.6% from a subgroup analysis had renal failure, which is an exclusion criterion in trials on NOACs. CONCLUSION: In patients recently discharged from the hospital with the diagnosis of nonvalvular AF, warfarin use decreases and aspirin treatment increases with patients' age. These patients are older, more frequently female, and on multiple medications. The benefit of NOACs in these subjects needs to be confirmed in phase IV clinical studies.

Tuberous sclerosis in a term newborn with opisthotonus - The value of ultrasound.

PURPOSE: We describe the clinical findings and the results of cerebral imaging studies [ultrasound (US), magnetic resonance imaging (MRI)] in a full-term newborn with tuberous sclerosis (TS) complex. This condition is inherited as an autosomal dominant trait and characterized by hamartomas involving multiple organs. Diagnosis is based on physical examination together with imaging support. METHODS: Since the TS complex can result in numerous CNS abnormalities, cerebral US should be used to further characterize this malformation. CONCLUSION: Sonography is a useful modality for evaluation of the full-term neonatal brain.

Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography.

We describe the clinical and cerebral ultrasonographic features of a rare case of type 1 acrocephalosyndactyly (Apert syndrome). The patient was a newborn male whose twin had died in utero. Most cases of Apert syndrome are sporadic, although autosomal dominant inheritance has also been reported. Diagnosis is based on physical examination together with imaging data. Since Apert syndrome can give rise to numerous CNS abnormalities, affected newborns should undergo echoencephalography for more complete characterization of their malformations.

Surgical cutdown of the right carotid artery for aortic balloon valvuloplasty in infancy: midterm follow-up.

A vascular approach for balloon aortic dilatation in infants is of major concern due to the high risk of femoral artery injury. To overcome this problem, a surgical right carotid artery (RCA) approach has been advocated. No reports are available on RCA after neonatal cutdown. Since 1990, RCA cutdown has been performed in 29 infants with congenital aortic stenosis. Periprocedural complications included one asymptomatic occlusion and one transient trauma of the stellate ganglion. At a mean follow-up of 4.4 +/- 2.2 years from aortic valvuloplasty, ultrasound assessment of morphology and flow of RCA was performed in 17 children. RCA was patent in all patients. The mean ratio of right/left carotid artery diameter was 0.95 +/- 0.16 (range 0.65-1.2). The site of surgical incision could be identified in 5 children in the absence of flow disturbance. A 6-year-old asymptomatic girl, who underwent two procedures, had a 35% reduction of RCA diameter at the site of cannulation and turbulent flow at Doppler interrogation, indicating mild obstruction. Our data demonstrate that RCA is well preserved after neonatal surgical cutdown; asymptomatic obstruction can occasionally be present.

Sonographic detection of rhabdomyosarcoma of the urinary bladder.

Rhabdomyosarcoma (RMS) is the most common malignant pelvic tumor in the young child, occurring typically in children aged 2-4 years. It arises from the prostate or the trigone of the bladder in boys, and from the vagina or uterus in girls. We report a case of bladder rhabdomyosarcoma and discuss the ultrasonographic images. The mass produced filling defect on the contrast cystogram and also was demonstrated with CT.

Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings.

The authors report a case of a lethal form of asphyxiating thoracic dysplasia (Jeune syndrome) in a newborn female with a narrow thoracic cage causing severe respiratory failure at birth. The diagnosis was unequivocally confirmed by radiographs of thorax and pelvis. This report emphasizes the importance of the radiological and sonographic features in establishing a correct diagnosis.

Imaging of neonatal hemangiomas, two cases.

Hemangiomas are the most common tumor of infancy. Most hemangiomas are harmless and follow a benign clinical course and undergo regression with time. Sometimes they can destroy vital organs and become life-threatening. We report two cases of neonatal hemangiomas which presented very different clinical aspects and course.

[A case of congenital hepatic hemangioendothelioma treated with prednisone: the echographic changes and Doppler study]. / Un caso di emangioendotelioma epatico congenito trattato con prednisone: modificazioni ecografiche e studio Doppler.

Imaging investigations and other findings observed in a term infant with a multicentric hepatic hemangioendothelioma, admitted to the Intensive Care Unit at the age of 13 days because of non specified feeding difficulties and dyspnoea, are presented. Physical examination revealed cardiac bruit and congestive heart failure with marked hepatomegaly; in addition there were multiple small skin hemangiomas. Echocardiography was negative, abdominal sonography showed multiple round lesions of mixed echogenicity in the liver, large vascular channels, a right hepatic artery and hepatic veins enlarged, a caliber of the aorta below the level of the superior mesenteric artery reduced. The infant was additionally investigated by whole-body scintigraphy with 99mTc-labeled red blood cells to determine the possibility of coexistence of other visceral hemangiomas and by MR, in which the tumor manifested as multiple well-circumscribed space-occupying nodules of high signal intensity on T2-weighted images with evidence of fast flow. The baby underwent furosemide and steroid therapy: serial two-dimensional US scans showed change in echogenicity, responding to therapy. Doppler sonography has proven to be also very useful in the monitoring therapy determining changes in flow pattern and velocity at the level of hepatic, cerebral and renal vessels: before therapy we observed a reduction of the diastolic flow until the zero line through the internal carotid artery and renal artery with an increase of the Resistance Index. It means that this important component can be compromised in the presence of a hepatic hemangioendothelioma.

Lipoma of the corpus callosum in a neonate: sonographic evaluation.

Lipomas of the corpus callosum are benign neoplasms which are rarely diagnosed in pediatric patients. In infants they are congenital lesions consisting of collections of adipose tissue; their etiology is unclear. We describe a case of callosal lipoma discovered by sonography in a 2-day-old neonate.

Darrow-Gamble disease: ultrasonographic and radiographic findings.

A case of Darrow-Gamble disease is presented with review of the radiographic and ultrasonographic appearance of this rare cause of profound chronic diarrhea beginning at birth. The disease is caused by a defect of active intestinal chloride transport which results in a large loss of the electrolytes and water. To prevent growth retardation and renal involvement an adequate replacement therapy is necessary. This uncommon anomaly was detected by ultrasound 3 weeks before delivery. Both sonography and radiography were useful diagnostic tools in the postnatal period. The clinical features of the lesion are also discussed.

[A case of congenital chloridorrhea: the diagnostic contribution of pre- and postnatal echography]. / Un caso di cloridrorrea congenita: contributo diagnostico ecografico pre-postnatale.

The authors describe a case of "congenital chloride diarrhea" in a preterm female infant with a profound chronic diarrhea beginning at birth. The disease lies in a defect of active intestinal Cl- transport which results in a large loss of the electrolytes and water. To prevent a reduced growth and the renal involvement an adequate replacement therapy is necessary.