Mandibuloacral dysplasia type A in childhood.

Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis.

Magnetic resonance findings and ophthalmologic abnormalities are correlated in patients with neurofibromatosis type 1 (NF1).

In subjects with neurofibromatosis type 1 (NF1), we show that a reduction in the visual field is the most sensitive indicator of gliomas along the optic pathway. Therefore, we conclude that a visual field evaluation is the most sensitive clinical test among those evaluated to predict the presence of optic pathway pathology on an MRI examination. These data may contribute to the establishment of more precise guidelines for the evaluation and treatment of children with NF1.

[An assessment of abdominal fatty tissue distribution in obese children. A comparison between echography and computed tomography]. / Valutazione della distribuzione del tessuto adiposo addominale nei bambini obesi. Confronto tra ecografia e Tomografia Computerizzata.

PURPOSE: Computed tomography (CT) and, more recently, ultrasound (US), have proved excellent tools for quantifying adipose tissue distribution. Body fat distribution is an important factor in the treatment of obesity and its complications. We investigated the correlation between CT and US measurements in pediatric obesity. MATERIAL AND METHODS: Forty obese children and adolescents aged 4.1-14.8 years were submitted to CT and US. Intra-abdominal, subcutaneous and total body fat were calculated (in cm2), with the CT image analysis software. The rectus muscle-spine and rectus muscle-aorta distances, as indicative of visceral fat thickness, were measured on US images with(out) compression. The distance between skin-fat and fat-rectus muscle interfaces was measured as subcutaneous fat thickness. We also compared US-CT findings with other morphometric variables--i.e., patient's (ideal) body weight and skin fold measures. RESULTS: At US, the rectus muscle-aorta and rectus muscle-spine distances ranged 2.4-7.5 cm (mean: 4.47 cm) and 3.6-8.9 cm (mean: 5.79 cm), respectively. The skin-rectus muscle distance ranged 1.2-7.5 cm (mean: 3.14 cm). A statistically significant correlation was found between the CT measurement of visceral fat and the aorta-rectus muscle and rectus muscle-spine distances (r = 0.80 and 0.74, respectively). The US measurements of subcutaneous fat were correlated with CT subcutaneous fat area (r = 0.82). No correlation was found between overweight, as calculated by body mass index, and CT or US fat. CONCLUSION: Our findings indicate that US is as useful as CT in evaluating body fat distribution in pediatric obesity.

Central nervous system atypical teratoid/rhabdoid tumour of infancy. CT and mr findings.

In 1995, as a result of the observation of Rhabdoid elements among the other components of a Teratoid/Rhabdoid tumor (TRT), a new nomenclature was introduced, Atypical Teratoid/Rhabdoid Tumor (ATRT) of infancy and childhood. We report the clinical history and radiological findings in a child affected by central nervous system (CNS) ATRT.

[Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging]. / Manifestazioni neoplastiche extracerebrali nella neurofibromatosi tipo 1: diagnostica per immagini integrata.

PURPOSE: To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors. MATERIAL AND METHODS: The findings of 376 NF-1 patients (194 men and 182 women; age range: 0.1-48 years, mean: 8.1) were retrospectively reviewed. The patients had been submitted to abdominopelvic and superficial US and, in case of abnormal US findings or in the presence of symptoms, to CT and/or MRI. In addition, we considered 5 more patients (2 men and 3 women; age range: 50-72 years, mean: 64.4) with incomplete forms of NF-1 diagnosed after the finding of nerve sheath tumors. Biopsy (12 cases), surgery (10 cases), or clinical-instrumental follow-up were the study criteria. RESULTS: In the first group of patients we identified 91 cutaneous, 222 subcutaneous, 11 pendulous and 25 internal neurofibromas. Plexiform neurofibromas were found in the neck (1 case), chest (6 cases), abdomen (16), pelvis (8). We also found 1 benign and 1 malignant Schwannomas, 2 nerve sheath fibrosarcomas, 1 dopamine-producing sympatoma and 1 spermacytoma. As for the second group of patients, we had 2 Schwannomas, 1 pulmonary neurofibroma, and 2 multiple plexiform neurofibromas. The neurofibromas exhibited homogeneous US hypoechogenicity or slight echogenicity, with little contrast enhancement at CT. MR showed peripheral hyperintensity and central hypointensity on T2-weighted sequences and marked contrast enhancement after gadolinium, sometimes with mostly central uptake. The plexiform neurofibromas, which are typical of NF-1, had poorly-defined or infiltrating margins, with similar findings to the previous ones but sometimes with less homogeneous patterns at both US and CT. The Schwannomas, which are a less common finding in NF-1, exhibited different features at MRI and CT, namely pseudo-liquid or solid-inhomogeneous patterns with irregular and inhomogeneous contrast enhancement relative to the Antoni A/B tumor component. In the malignant lesions we observed infiltrating patterns, with irregular and inhomogeneous contrast enhancement, arranged asymmetrically relative to the contralateral lesion. CONCLUSIONS: Extra-axial neoplasms are a frequent finding in NF-1. Despite the extremely variable appearances of some lesions (particularly Schwannomas), the typical plexiform neurofibroma exhibits characteristic patterns. The diagnosis of malignancy often requires bioptic confirmation.

Cystic fibrosis: MR assessment of pancreatic damage.

PURPOSE: To evaluate magnetic resonance (MR) imaging for assessment of pancreatic damage in cystic fibrosis. MATERIALS AND METHODS: Twenty-seven patients with cystic fibrosis and 12 control subjects underwent T1-weighted imaging for visual assessment for pancreatic hyperintensity and mixed spin-echo-inversion-recovery imaging for quantitative measurement of T1. Pancreatic insufficiency, pulmonary status, and genotype were recorded. Statistical correlation was conducted. RESULTS: Four patterns of pancreatic involvement were noted: diffuse hyperintensity with a lobular pattern, diffuse homogeneous hyperintensity without residual lobular pattern, hyperintensity with focal areas of sparing, and no structural or signal intensity changes. Statistically significant reduction of the T1 was noted in 21 patients compared with that of controls. Statistically significant correlation between T1 shortening and pulmonary clinical-radiologic compromise and pancreatic insufficiency was found. CONCLUSION: MR imaging may offer further indication of pancreatic and, indirectly, pulmonary damage during the clinical course of cystic fibrosis. A pattern of fibrofatty infiltration of the pancreas, of undetermined clinical significance, is reported.

Ultrasound screening of urinary malformations in 'normal' newborns.

OBJECTIVES: To determine: (1) the incidence in newborns of both significant urinary anomalies and mild hydronephrosis; (2) the degree of inaccuracy of prenatal sonography in our area, and (3) the evolution of neonatal hydronephrosis. METHODS: Using ultrasound, we examined 4,130 consecutive newborns, of which only 12 had a positive prenatal sonography. We distinguished 2 grades of hydronephrosis: mild (pelvic diameter between 5 and 15 mm), and significant (pelvic diameter > 15 mm). RESULTS: In the 'normal' newborns (with negative prenatal sonography), we found 0.9% significant urinary anomalies and 5.2% mild hydronephroses. Mild hydronephroses improved or disappeared spontaneously in 82% of the cases. 50% with significant dilatation required surgical correction. CONCLUSIONS: Neonatal ultrasound screening is essential for the early detection of uropathies missed on prenatal examination. The majority of mild hydronephroses detected in the newborn improve or disappear spontaneously. We hypothesize a relationship between the degree of dilatation, obstruction and evolution.

[Liver damage and obesity in pediatric age]. / Alterazioni epatiche e obesità in età pediatrica.

In adult obese patients both an increase of aminotranspherase values and hepatic steatosis have been frequently showed. Conversely in childhood the existence of a liver's damage is often not investigated. To assess the prevalence of hepatic alterations in obese children, we studied 135 subjects, all affected by simple obesity, showing in a 20% of them the presence of ultrasonographic evidence of hepatic steatosis and/or hyperaminotransferasemia. Our study demonstrates the existence of silent hepatic alterations also in obese children and suggests to improve the treatment of obesity in childhood to prevent the progression of liver's damage.

[Diagnostic role of ultrasound in the transplanted kidney]. / Ruolo diagnostico degli ultrasuoni nel rene trapiantato.

Among diagnostic postoperative procedures in renal cadaver transplantation echographic examination shows high sensitivity and specificity (over 80%). Urographic examination is in fact often dangerous and impossible in non-functioning grafts. Echography can reveal several liquid and solid collections such as hematomas, urinomas, abscesses, lymphatic collections and so on. Urinary obstructions caused by ureteral clots, calculi, external masses can be also detected through echographic examination. Vascular complications can be evaluated through echo and US Doppler examination showing arterial and venous complications. In most of cases acute and chronic graft rejection can be revealed through echo examination whereas in few cases diagnosis can be made only with the help of renal biopsy, laboratory findings and clinical conditions. In conclusion echography is a safe and reliable procedure in renal graft postoperative monitoring.