Pulmonary mycosis in AIDS.

We retrospectively reviewed our series of 35 pulmonary mycosis in patients with AIDS, observed from 1987 to 1999, to correlate the imaging and pathologic findings. We further evaluated the frequency of fungal pneumonia before and after the use of a highly active antiretroviral therapy (HAART). Early recognition of pulmonary mycosis is imperative in these patients and improved survival can be achieved with early CT detection and prompt institution of high-dose antifungal therapy.

[Fetal urinoma caused by pyelo-ureteral obstruction; spontaneous remission]. / Urinoma fetale da stenosi del giunto pielo-ureterale: evoluzione naturale.

With advances in obstetric ultrasound, prenatal observation of the pathogenesis and natural history of obstructive uropathy is possible. The Authors describe the ultrasonographic appearance of a fetal monolateral urinoma associated with a severe hydronephrosis and the progressive reduction of the urinoma during the last weeks of the pregnancy until complete disappearance in the first month of life. Urinoma detected antenatally, with onset very early in gestation, usually is associated with severe urinary tract obstruction, like posterior urethral valves or ureteropelvic junction obstruction and is always associated with a severe impairment of ipsilateral renal function.

[Spiral computerized tomography in the study of renal neoplasms in children]. / La Tomografia Computerizzata spirale nello studio delle neoplasie renali nell'età pediatrica.

INTRODUCTION: Different kinds of pediatric renal tumors are known, the commonest of which is Wilms' tumor or nephroblastoma; other less common tumors are nephroblastomatosis, rhabdoid malignant tumor, clear cell sarcoma, congenital mesoblastic nephroma and multilocular cystic nephroma. However, the diagnostic imaging features of all these neoplasms are very similar. Ultrasonography (US) and Computed Tomography (CT) have currently a preminent role in the diagnostic evaluation of these conditions, compared to conventional radiology. The use of Spiral Computed Tomography (spiral CT) has definitely improved the efficacy of CT and we report on the advantages of this technique in both diagnosing and staging pediatric renal tumors. MATERIAL AND METHODS: We examined 11 children with renal masses, 5 boys and 6 girls, whose age ranged 3 days to 10 years. All of them were submitted to US and CT; an abdominal plain film was previously obtained in 5 cases. Five patients were examined with conventional CT scaning, while the other 6 patients were submitted to spiral CT. CT examinations were always performed before and after i.v. administration of nonionic contrast medium (3 mL/kg). Contrast medium injection was performed manually in most cases; a mechanical injector was used only for older children, with 1 mL/s injection rate. Volume scan started at the end of manual or mechanical injection, or in some cases with a 70-second delay from the beginning of the mechanical injection. Spiral CT examinations were performed with 5-mm collimation thickness, 10 mm/s table speed (pitch = 2), 5-mm reconstruction intervals. In 4 of 6 cases studied with spiral CT a simple sedation of the patients was necessary. RESULTS: In 4 patients the abdominal plain film provided diagnostic information based on indirect signs such as bowel loops displacement by the tumor; it showed also some calcifications within the lesion in 1 of these cases and it was negative in 1 case. US allowed to detect the tumor and to evaluate its site, size and morphology in all patients. However, this technique is inaccurate in detecting abdominal lymph nodes involvement and failed to show two small cortical lesions in the contralateral kidney. CT always allowed to confirm the renal origin of the tumor, clearly showing the mass morphology and size and its intra- and extrarenal spread; moreover this technique evaluated the densitometric pattern of the mass before and after contrast medium administration. Compared to conventional CT, the spiral technique improved the enhancement of the lesion and abdominal vessels; the latter were better studied using multiplanar reconstructions (MPR). Furthermore, spiral CT detected a peritumoral pseudocapsule in 3 cases, a 5-mm lesion of the contralateral kidney in 1 case and abdominal lymph nodes involvement in 1 case. Angiography was performed in 2 patients to assess the presence of hemorrhagic components within the lesion and the possibility of preoperative embolization. DISCUSSION: CT is currently the technique of choice in the diagnosis and staging of renal masses in children, since it allows to recognize lesion site, size and densitometric patterns and provides an excellent visualization of surrounding structures (vessels and lymph nodes). Spiral CT further improves the examination quality, reducing the sedation time and requiring lower radiation doses. The use of MPR improves the depiction of great vessels and permits to detect venous thrombosis. Finally, synchronous lesions in the contralateral kidney and metastases to the liver and lungs are more easier to show.

[Diagnostic imaging of splenic cysts in children]. / Diagnostica per immagini delle cisti spleniche nell'età pediatrica.

INTRODUCTION: Nonparasitic splenic cysts are a rare finding: they can be distinguished into true cysts (epidermoid or epithelial) cysts or false (pseudocysts), depending on the presence/absence of an inner epithelial lining. They are usually found during the second and third decade of life, although they can also appear during childhood. They grow bigger in children, becoming clinically apparent due to the symptoms of compression of adjacent structures. The diagnosis is radiological, made with ultrasonography (US) and computed tomography (CT). We report the US and CT patterns of splenic cysts to differentiate true from false cysts. MATERIAL AND METHODS: Our series consists of 5 patients, aged 5-17 years, all examined with US and CT; one of them was also submitted to plain abdominal radiography. Conventional CT was used in 2 cases and helical CT in the extant 3. RESULTS: All examinations yielded useful clinical informations. The only radiograph showed the rightward displacement of the gastric gas bubble US always identified the cyst and its pertinence to splenic parenchyma, although failing to assess the liquid/solid nature of a highly echogenic cyst in one case. CT confirmed the cystic nature of all masses and showed the lack of contrast enhancement of cyst walls and the presence of septa or parietal calcifications. DISCUSSION: Radiological examinations, particularly US and CT, can diagnose splenic cysts unquestionably, correctly defining the relationships with adjacent organs. CT is more sensitive than US in detecting septa or calcifications, which are definitely useful findings to distinguish true from false cysts, since internal septa are more frequent in true cysts while parietal calcifications are typical of pseudocysts. The final diagnosis, however, is made at histology.

[Three-dimensional reconstructions using spiral computerized tomography in the study of craniostenosis. Preliminary experience and technical considerations]. / Ricostruzioni tridimensionali mediante Tomografia Computerizzata spirale nello studio delle craniostenosi. Esperienza preliminare e considerazioni tecniche.

INTRODUCTION: Craniostenosis is a complex association of syndromes and isolated diseases characterized by premature closure of cranial sutures. Three-dimensional (3D) Computed Tomography (CT) reconstructions have been widely used for years in the preoperative assessment and postoperative follow-up of craniostenosis, because of their effectiveness and diagnostic accuracy. Our study concerns the acquisition and reconstruction techniques of spiral CT images. This technique provides optimal diagnostic results allowing reduction of the radiation dose to the patient and of the sedation time. MATERIAL AND METHODS: May, 1995, to September, 1996, twelve patients with abnormal cranial growth or suspected craniostenosis underwent spiral CT examinations, with 3D reconstructions. Fourteen examinations were performed, including two postoperative investigations. Our diagnostic protocol consisted of images with 3 mm slice thickness, 3 mm slice interval, 2 s scan time, with 180 mAs, 120 kV. The images were reconstructed at 1 mm intervals. RESULTS: According to the literature, this technique is safe enough relative to the dose to the patient (12.2 mSv) and permits to obtain good quality 3D reconstructions and adequate images of the brain and liquor spaces. Simple sedation was sufficient in all cases, using pentobarbital, 2-3 mg/kg. CONCLUSIONS: The Authors emphasize the diagnostic effectiveness and accuracy of spiral CT with 3D reconstruction in the study of craniostenosis, which also permits imaging of the brain and liquor spaces with minimal loss of information.

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

An apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right split foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split hand on right. This observation provides further confirmation of the presence of a locus for SHSF on 7q and narrows the critical region to band 7q22.1. Defects caused by alterations of this chromosome region are variable and include manifestations of both syndromal and non-syndromal SHSF. Review of SHSF cases associated with chromosome 7 abnormalities showed a preferential involvement of the lower limbs and of the right side, suggesting the action of locally restricted developmental resistance mechanisms.

Prenatal diagnosis of bilateral adrenal cysts.

We report a case of prenatally diagnosed bilateral adrenal cysts. Ultrasonographic diagnosis was made at 35 weeks of gestation and spontaneous resolution was observed by age 6 months. We review the characteristics of adrenal cysts, particularly hemorrhagic lesions, and recommend ultrasonography for followup.

Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity.

A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found in two distantly related individuals. The proposita, aged 25 years, showed metacarpal and phalangeal hypoplasia on both hands, ectrodactyly on both feet, and nearly complete bilateral absence of the fibula. Only milder acromelic defects were detected in a second cousin. A similar pattern of skeletal involvement had been previously described in an unrelated Italian family. The peculiar segregation pattern can be explained by autosomal dominant inheritance with low penetrance and variable expressivity.

[Multiple synostosis syndrome]. / Sindrome delle sinostosi multiple.

An autosomal dominant syndrome is related to multiple fusion of joints, conductive deafness and craniofacial changes.

Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.

We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.

[Esophageal atresia associated with a subglottal stenosis. Apropos of a case]. / Atrésie de l'oesophage associée à une sténose sous-glottique. A propos d'un cas.

The authors report a case of a 3 kg newborn with oesophageal atresia and congenital subglottic stenosis. The literature is reviewed and the management of our case reported. As in many cases the subglottic stenosis outgrows within a year of age, though tracheostomy is not justified even if general anesthesia is needed in case of major surgery.