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Objective: To compare the ways of evaluating arithmetic skills in Brazilian children with ADHD by combining three validated neuropsychological tests and determining whether they are sensitive to the methylphenidate treatment. Methods: Forty-two children (9‒12 years old) participated in the present study: 20 were children with ADHD (DSM-IV) and 22 were age-matched controls. A classification criterion was used for each test separately and one, for their combination to detect the presence of arithmetic difficulties at two time points: baseline (time 1); and when children with ADHD were taking 0.3‒0.5 mg/kg of methylphenidate (time 2). The study also assessed children’s subtraction performance, combining parts of these tests. Results: Separately, the tests were only sensitive to differences between groups without medication. However, by combining the three neuropsychological tests, we observed a difference and detected a reduction in arithmetic difficulties associated with the methylphenidate treatment. The same effects were found in subtraction exercises, which require a borrowing procedure. Conclusions: The present study detected arithmetic difficulties in Brazilian children with ADHD and the effects of methylphenidate. Given this improvement in sensitivity, combining tests could be a promising alternative when working with limited samples. Resumo Objetivo: Comparar as formas de avaliar as habilidades aritméticas em crianças brasileiras com TDAH, combinando três testes neuropsicológicos validados, e verificar se são sensíveis ao tratamento com metilfenidato. Métodos: Quarenta e duas crianças (9‒12 anos) participaram deste estudo: 20 eram crianças com TDAH (DSM-IV) e 22 eram controles pareados por idade. Usamos um critério de classificação para cada teste separadamente e outro para a combinação entre eles, visando detectar a presença de dificuldades aritméticas em dois momentos: início (tempo 1) e quando as crianças com TDAH estavam tomando 0,3‒0,5 mg/kg de metilfenidato (tempo 2). O estudo também avaliou o desempenho dessas crianças em operações de subtração, combinando partes desses testes. Resultados: Separadamente, os testes foram sensíveis apenas às diferenças entre os grupos sem medicação. Entretanto, ao combinar os três testes neuropsicológicos, foi possível observar uma diferença e detectar uma redução das dificuldades aritméticas associadas ao tratamento com metilfenidato. Os mesmos efeitos foram encontrados em exercícios de subtração que exigem o procedimento de empréstimo. Conclusões: O estudo foi capaz de detectar dificuldades aritméticas em crianças brasileiras com TDAH e os efeitos do metilfenidato. Dada essa melhora na sensibilidade, combinar testes poderia ser uma alternativa promissora ao trabalhar com amostras limitadas.

OBJECTIVE--A recent prospective study in patients with dilated cardiomyopathy has reported that the disease is familial in at least 20% of cases, but the pattern of inheritance could not be ascertained. The presence of an autosomal dominant pattern, such as seen in hypertrophic cardiomyopathy, could make it possible to search for single gene defects with linkage analysis, whereas polygenic inheritance would be consistent with the autoimmune hypothesis. To assess the pattern of inheritance, we retrospectively identified patients with familial disease and assessed their first degree relatives (parents, siblings and children) for dilated cardiomyopathy. DESIGN AND PATIENTS--The family history of 105 consecutive patients with dilated cardiomyopathy was reviewed and 14 who had at least one first degree relative with documented disease were identified as probands. Their healthy relatives (109) were studied by physical examination, electrocardiography, M mode and cross sectional echocardiography, and were classified as unequivocally normal or as potential carriers. The potential carriers had abnormal electrocardiography with either at least one echocardiographic measurement of left ventricular cavity dimension or percentage fractional shortening outside 2 SDs of normal values (based on age and body surface area). The potential carriers underwent 24 hour Holter monitoring and maximal treadmill exercise. RESULTS AND CONCLUSION--Twenty three relatives (21%) were classified as potential carriers: 12 had an increased left ventricular end diastolic dimension, with reduced percentage fractional shortening in three; 11 had an abnormal electrocardiogram and increased end diastolic dimension, with reduced percentage fractional shortening in five. Such abnormalities were very mild and follow up is necessary to find whether such changes represent early disease. Pedigree analysis was most consistent with polygenic inheritance.

In bladder exstrophy and to a lesser extent in epispadias the muscular tissue in the bladder wall may often be replaced by collagen. The aim of our study was to assess the relative changes of smooth muscle versus connective tissue in patients with the exstrophy-epispadias complex.Nine full thickness detrusor biopsies from children with the exstrophy-epispadias complex were analyzed. Biopsies were stained with the Masson trichrome method to differentiate muscular tissue from collagen. At x50 magnification using image software for computerized morphometry the areas of smooth muscle and collagen were measured and expressed as a percent. As controls, detrusor biopsies from 8 children with unilateral obstructive megaureter or ectopic ureter were analyzed using the same method.The average rates of smooth muscle in children with the exstrophy-epispadias complex were 7, 19.3 and 31.5%, respectively, in newborns, and before and after bladder neck reconstruction. In controls the rate averaged 56.5%.The ratio of smooth muscle-to-connective tissue increases from the newborn period to puberty in the exstrophy-epispadias complex. After staged reconstruction is completed this ratio remains below normal, although it is increased. Such a change may represent a histological marker of the inadequate volume increase of some of these bladders.

Parenteral nutrition (PN) is the only treatment for patients affected by chronic intestinal failure (CIF). Home parenteral nutrition (HPN) programs are started when patients need prolonged PN. Unfortunately, many patients on prolonged PN develop liver disease (LD). The aim of our study was to assess the prevalence of LD in our series of patients on HPN. We reviewed our records of patients discharged from the hospital on HPN for CIF. HPN was started when one parent was fully trained in the use of this treatment and if the social and familial home environment was reliable. All patients received total PN by a central venous catheter. All patients with abnormal AST, ALT, ALK, gammaGT, and bilirubin values for more than 3 months were considered affected by PN-related LD. Thirty-six patients (23 of whom were boys and 13 girls) were discharged on HPN. During the study period, for CIF, 16 were affected by short bowel syndrome (SBS), of whom 6 had ultra-short bowel; 16 with functional intestinal failure, and 4 with chronic intestinal pseudobstruction (CIPO). Mean duration of HPN was 2.1 years/patient. Nine of 36 patients (25%) on HPN for CIF showed LD. Seven of the 16 patients (43%) with LD were affected by SBS and 2 (12.5%) patients by functional intestinal failure. No patients with CIPO developed LD. In patients affected by SBS, the onset of LD was very earlier than in patients with ID.

We describe here the clinicopathological findings in a child with congenital nephrotic syndrome (CNS) non-responsive to medical therapy who developed acquired cystic kidney disease (ACKD) in both native kidneys after long-term peritoneal dialysis. This case indicates that CNS is a further pathologic condition related to the development of ACKD.

Three children with malabsorption presumably caused by celiac disease had undergone jejunal biopsy. While a histological examination revealed microvacuolization of enterocytes in the absence of celiac lesions, an ultrastructural investigation disclosed numerous chylomicrons and larger lipid vacuoles inside the cytoplasm of enterocytes, mostly in the supranuclear region. No chylomicrons were evident in the interstitium between adjacent enterocytes, as observed in normal subjects. These ultrastructural findings allowed for the diagnosis of "Chylomicron retention disease" (CRD). CRD was described for the first time by Anderson in 1961, and it is included in the group of disorders of biosynthesis and secretion of B apolipoproteins (apoB). This disease, in particular, appears to result from a specific defect involving the secretion of lipoproteins containing apoB-48 from the gut, with the complete absence of post prandial chylomicrons in the sera. CRD needs to be recognized early because of its adverse effects on growth and its potential for neurological and ocular complications, and the ultrastructural identification of chylomicron-size lipid droplets clustered in the enterocytes, with the absence of fat outside the cells, represents the gold standard to identify CRD. together with clinical aspects and laboratory measurements. In this study, we describe the histological and ultrastructural aspects observed in three pediatric cases of CRD.

Study received institutional review board approval. Supported by the Italian Ministry of Health. * Correspondence: Department of NephroUrology and NeuroUrology Unit, Bambino Gesu Pediatric Hospital, Piazza S Onofrio 4, 00165 Rome, Italy (telephone: 0039.06.68592643; FAX: 0039.06.68592518; e-mail: mosiello@opbg.net). Purpose: Botulinum toxin type A has gained popularity in urology. Most reported studies have been in adults at urology centers and most have addressed long-term safety. Since botulinum toxin type A treatment for neurogenic bladder dysfunction requires repeat injections, verifying that such treatment does not induce fibrosis in children seems essential. Materials and Methods: The study was approved by the institutional review board and patients were enrolled after we obtained written consent. Patients with neurogenic bladder dysfunction not responding to conventional treatment (anticholinergics and clean intermittent catheterization) were treated with 10 IU/kg botulinum toxin type A up to a maximum of 300 IU. Endoscopic cold cup biopsies were obtained from the posterolateral bladder wall 1.5 to 2 cm above the ureteral orifice. Bladder wall findings were categorized into 3 groups, including inflammatory infiltration, edema and fibrosis. Each criterion was then graded as mild or severe and analyzed by Fisher’s exact test (p 0.05). Results: A total of 46 bladder wall biopsies were obtained from 40 patients 2 to 18 years old. Biopsies were evaluated in groups 1 and 2, including group 1—20 from patients with no botulinum toxin type A injection and group 2—20 after botulinum toxin type A injection. Group 2 was subdivided into group 3—10 biopsies after 1 injection and group 4—10 after multiple injections. Six patients underwent biopsy twice, that is before the first and second treatments. Histological changes were present in all biopsies. When comparing groups 1 and 2, there was no statistically significant difference in inflammation and edema. However, there was a significant difference in fibrosis between groups 1 and 4 (p 0.05) with apparently decreased fibrosis after multiple injections. Conclusions: In our experience repeat botulinum toxin type A injections into the detrusor in children do not lead to increased fibrosis in the bladder wall. This study confirms the long-term safety of botulinum toxin type A in the pediatric population.

A case of brown tumor of hyperparathyroidism in a young girl with a long history of chronic renal failure and hemodialysis therapy is reported. The diagnosis can be reached with the aid of the classic skeletal radiological sign which address the evaluation of both CT and MR imaging.

Testicular dermoid cysts are rare in the pediatric age group: their discovery in an undescended testis is exceptional. The origin of this lesion is still unclear, but it should be considered as a monolayer expression of a mature teratoma. Though surgeons when confronted with these intratesticular cysts have traditionally opted for castration, in presence of small, compact masses, simple enucleation may be recommended, provided that the integrity of the neighboring parenchyma is not affected.

We describe a fatal case of Wolman's disease in a 5-month-old Italian infant with severe gastrointestinal symptoms in whom the diagnosis was made from intestinal biopsy findings at the age of 3 1/2 months. Abdominal CT scan, elevated blood acid phosphatase levels and histologic findings confirmed the diagnosis.

The phenotype of the proliferating cells in two patients with erythrophagocytic histiocytosis is described. These 6- and 18-month-old female patients presented with fever, anemia, hepatosplenomegaly, and lymphadenopathy.Clinical histories were reviewed, and pathological specimens of both patients were studied by histology, and electron microscopy/immunohistochemistry using antibodies against macrophage and Langerhans cell (LC) antigens.Histology revealed prominent erythrophagocytosis of proliferating histiocytes. By immunohistochemistry, conventional macrophage (HAM-56, alpha 1-antitrypsin, alpha 1-antichymotrypsin, lisozyme, CD68, and alpha-subunit of S-100 protein) and LC (CD1a and S-100 protein) markers were positive, as well as double labeling for CD1a and alpha 1-antichymotrypsin, in a majority of proliferating cells. Ultrastructural examination revealed Birbeck granules and prominent phagolysosomes frequently in the same cell.The hybrid ultrastructural and immunohistochemical phenotype between phagocytic macrophage and LC of proliferating histiocytes supports the common origin of these different histiocyte subtypes. This unusual phenotype might be the expression of the proliferating (hybrid) precursor or be the effect of unknown stimuli. Additional cases of childhood erythrophagocytic histiocytosis should be studied with immunophenotyping and ultrastructure to determine whether the hybrid phenotype represents a specific entity or an epiphenomenon.

The authors discuss a case of malignant small round cell tumor of the thoracopulmonary region (Askin tumor) in which the initial pathological diagnosis was "sarcoma". Only a review of the histological specimens and the clinical features and evolution revealed the correct diagnosis of "Askin tumor". A 15 year old girl with fever, dyspnoea, cough underwent thoracentesis, which revealed hemothorax. At surgery, a large mass not involving the lung, with pleural thickening, was found in the left hemithorax and excised, without rib resection. No metastasis was observed at that time. Histological findings revealed features of malignant small round cell tumors, with occasional pseudo-rosettes. Chemotherapy was performed. 16 months after clinical presentation the girl died with abdomino-thoracic metastatic disease.

In order to directly ascertain the presence of HCV virus infection in livers of patients with HCV chronic hepatitis, we investigated, by transmission electron microscopy (TEM), liver biopsies from 2 adults and 4 children for the presence of virus-like particles (VLPs). The plasmas of these HCV-positive patients were HCV-RNA-positive, with high ALT values. In liver tissue samples examined, we were able to detect plus and minus strands of HCV RNA by strand-specific RT-PCR. Aggregates or single VLPs of about 45 nm in diameter were detectable in variable amounts in endoplasmic cisternae and in hepatocyte cytoplasms of infected patients. These results emphasize the relevance of performing TEM assays to confirm the diagnosis of HCV infection.

A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described.Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle.Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient.The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus.The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.

A two-month-old infant developed a vascular tumor of the right flank which upon biopsy proved to be a spindle cell hemangioendothelioma. The increased capillary bed characterizing the neoplasm caused a severe thrombocytopenia together with a consumption coagulopathy (Kasabach-Merritt syndrome). The patient, who was dependent on platelet transfusions, improved quickly after interferon alpha-2a was given at the dosage of 3,000,000 U/m2, with resolution of the Kasabach-Merritt syndrome after three weeks and a 75% decrease of the tumor volume within three months of treatment.

The clinico-pathologic association of nodular renal blastema, multicystic kidney and obstructive uropathy has been recently identified. We report on a female patient diagnosed as having unilater multicystic dysplasia by prenatal ultrasonography. The patient was nephrectomized at the age of 6 1/2 months. Examination of the resected kidney revealed multiple unilocular cysts in the cortex and hypoplasia of the homolateral ureter; histological study confirmed the presence of multiple cysts limited to the renal cortex, and revealed, among them, multiple cortical metanephric blastema cells islands. Our case supports a relationship between nodular renal blastema, cortical cysts and obstructive uropathy; ureter hypoplasia could cause intraluminal back pressure, with consequent abnormal development of the ampullae, normally endowed in nephronic anlagens induction, cystic tubular ectasia and persistence of nodular renal blastema. The peripheral location of renal nodular blastema and cysts supports a late error in nephrogenesis, at the time of formation of the last generation of nephrons.

The outcome of 5 children with visceral hydatid cysts treated with Albendazole and surgical therapy is reviewed. The diagnoses were confirmed by immunological tests, X-ray, ultrasound scanner (US) and computer tomography. The therapeutic approach was correlated to the type of infection pictures. Immunological tests, X-ray and US were performed with the aim to evaluate the response to the therapeutic protocol. Combination of pharmacological and surgical treatment resulted in a complete resolution for all patients without any recurrence and further dissemination of infection.

A very unusual case of intravaginal soft foreign body occurred in a 2 years girls has been reported. Such soft body easily removed in the course of a clinical examination was sent to the Department of pathology as botrioid sarcoma. The histologic examination revealed such material removed from vagina consisting of avian pulmonary tissue which was artfully introduced in the vagina of the girl by her schizophrenic mother.

On the basis of an extensive review of the literature and their personal experience, the authors consider that neonatal PILBD should not be regarded as merely a malformative anomaly of the bile excretory system, but as a delayed growth of the pars cystica of the hepatic bud in comparison with the normal growth pattern of the cranial part of the same hepatic bud. This leads to the development of hepatocytes and ductal plate, and these, in turn, are the origin of the perilobular or terminal bile ducts (Hering's ampullae) which eventually fuse with interlobular bile ducts for establishing the continuity of the bile duct system. The authors base this hypothesis on their L.M. and E.M. investigations and the casual observation of two cases in which the well documented bile duct anomaly eventually turned into a normal liver histology.

Dilated cardiomyopathy, frequently caused by acute myocarditis, is a common indication for heart transplantation in pediatric patients. The prognosis of children with acute myocarditis is not well known but is believed to be poor. We report the short-term follow-up in 20 pediatric patients (mean age 22 +/- 19 months) with acute myocarditis diagnosed by endomyocardial biopsy. All patients were treated by immunosuppression (cyclosporine and steroids). Endomyocardial biopsy was repeated after 6 months in all patients and after 1 year in patients with persistent acute myocarditis. To evaluate left ventricular function, two-dimensional echocardiography was performed at the time of each endomyocardial biopsy, and left ventricular end-diastolic volume index and ejection fraction were calculated. After 6 months, endomyocardial biopsy showed persistence of acute myocarditis in 13 of 20 patients. After 1 year, endomyocardial biopsy performed in 11 of 13 patients with persistent acute myocarditis showed ongoing acute myocarditis in 10 of 11 patients. On admission to the hospital, 16 of 20 patients had left ventricular dilation (end-diastolic volume index 122 +/- 19 ml/m2; normal values 63 +/- 17 ml/m2) and 20 of 20 had decreased contractility (ejection fraction 34% +/- 11%; normal values 66.1% +/- 5.2%). After 6 months, in all patients the end-diastolic volume index decreased to 73 +/- 23 ml/m2 (p0.001), and the ejection fraction increased to 56% +/- 8% (p0.000001).(ABSTRACT TRUNCATED AT 250 WORDS)

A rare case of asymptomatic pancreatic lipoma in an eleven-month-old child is presented. The abdominal mass was discovered occasionally during a grip episode. Preoperative tests proved the presence of a neoformation arising from the pancreas. It was multilobed, capsulated and located between colon transversus, spleen and stomach without infiltration of surrounding structures. The histological picture was that of a mature lipoma. The authors discuss the differential diagnosis versus other fat tumors.

A retrospective review of 177 neck masses in childhood treated between January 1975 and December 1990 at the "Bambino Gesù" Pediatric Hospital of Rome is presented, with particular emphasis on recurrences and their causes. 105, object of our study, were thyroglossal duct cysts (TDC) (58.7%); in the remaining 72 cases there were dermoid cysts (23.1%), granulomas (7.9%), lateral neck masses (1.69%) and other histological patterns. The aim was to identify the variables that could change postoperative hospitalization or cause the recurrence. The TDC's group was separated in two: 92 primary patients, while 13 received a preliminary operation in other institutions. In the first group we applied 41 Sistrunk, 43 Schlange, 8 cystectomies; 5 recurrences occurred (5.43%), 3 of which in patients operated on with modified Sistrunk's technique (Schlange) (60%). In the second group (13 patients) a standard Sistrunk procedure was always performed. We had only one recurrence (7.69%) due to a remnant of multiple proximal thyroglossal duct. In 11 cases (10.47%) there were postoperative complications due to an existing inflammatory condition of the TDC (8 patients -72.72%). In only one case there was a recurrence after 27 months. Histological study of the specimens showed that thyroglossal ducts were frequently multiple and widely spaced and may also be present in the distal portion of the duct; in our series in 16.19% we found the distal portion of the duct during the operation. Our overall recurrence frequency is 5.7%. Every lesion referred to a TDC must be treated with a Sistrunk procedure for the better results achieved with this surgical approach but, in our experience, we prefer to complete the Sistrunk's technique with the research and exeresis of the distal portion of the duct by a "muscular sparing procedure" that preserves little patients from pharyngodynia. At the follow-up, we have not recurrence in the 17 cases operated on by this procedure.

Pulmonary interstitial emphysema (PIE) may occur spontaneously, as a complication of endotracheal tube displacement, intrauterine viral pneumonia or massive aspiration of formula. Nevertheless PIE occurs more frequently in neonates requiring mechanical ventilation for RDS. Untoward effects of large air collections in the extra-alveolar spaces are based on decreased perfusion and ventilation of the affected lung tissues, compression of adjacent pulmonary parenchyma and mediastinum, possible air embolism. Sometimes PIE spontaneously regress, but in some instances the process is self perpetuating, leading to an "air block syndrome". Fourteen (19.4%) of 72 infants ventilated for RDS in a three-year period had radiological evidence of PIE during the first few days of life. All 5 bilateral, 7 diffuse and 2 localized cases were treated with "vigorous pulmonary therapy". In addition to these procedures, 4 neonates were submitted to a selective bronchial intubation (SBI) and 5 different infants improved after HFV. No one of our patients underwent a surgical procedure. Infants with fine linear hyperlucencies improved sooner. All pneumothoraces (7 of 14) were preceded by X-ray appearances of PIE. Three neonates died. Mortality was observed in newborns with bilateral PIE, because of an intraventricular hemorrhage in two and an intractable under tension pneumothorax in one patient. Plain chest roentgenograms, histological pictures and treatment modalities of PIE remain separated from these considered for congenital lobar emphysema, congenital cystic adenomatoid malformation, bronchogenic cyst or lung sequestration. Surgical treatment of PIE is not as universally accepted as in congenital cystic lesions of the lung, in which it's mandatory.

The authors report on a case of disseminated Langerhans' cell histiocytosis with a clinical presentation and a bone marrow simulating, at onset, an acute leukemia non lymphoid. A hepatic needle biopsy performed for the progressive enlargement of the liver oriented the diagnosis towards a Langerhans' cell histiocytosis. The morphological, immunohistochemical and ultrastructural study of these cells showed them to be undetermined, i.e. Langerhans' cell precursors.

One of the aims of necropsy at neonatal and infantile ages is to identify the causes of death in this population, which is decreasing continuously because of the decay in natality seen in Italy as well as in other western countries over the last few decades. Analysis of 2410 autopsies performed on 92% of deaths in infants under one year of age occurring at the Bambino Gesù Hospital in Rome in 1974-89 shows a striking change in the principal causes of death in recent decades: Malformations, neonatal anoxia and immaturity have now become the main causes of death in the first year of life, while there is a very low rate of nutritional and infectious diseases, which predominated in the past. The autopsy results obtained indicate, however, that the policy of paediatric care in public health systems must be changed.

This study using pulsed and continuous wave Doppler echocardiography was designed to achieve a cross-sectional echocardiographic categorization of the fibrous tissues in the environs of perimembranous ventricular septal defects, to determine the mechanism involved in its formation and for qualitative and quantitative evaluation of the anomalies associated with the entity. A total of 67 patients was studied, 23 presented cross-sectional echocardiographic evidence of perimembranous ventricular septal defect in isolation, 12 associated with tissue 'tags' and 32 combined with 'restrictive' tissue in the area of the defect. Four echocardiographic features of the 'restrictive' tissue were observed. In 23 of these 32 patients, it was possible to identify the exact anatomic origin of the 'restrictive' tissue (in seven complete and, in 15, partial involvement of the septal leaflet of the tricuspid valve; in one, prolapse of the aortic valve with a partial involvement of the tricuspid septal leaflet) while in nine the origin remained undetermined. In 20, the 'restrictive' tissue simultaneously protruded into the right atrium and ventricle; only in 12 did it extend exclusively into the right ventricle. Tricuspid insufficiency was detected by pulsed Doppler in 78% of the patients with 'restrictive' tissue and in 23% of the remaining patients. Tricuspid incompetence was severe in only two patients of the first group. Three patients with 'restrictive' tissue (9%) had obstruction to the outlet of the right ventricle and four (13%) patients presented aortic insufficiency. Five patients (16%) with 'restrictive' tissue closing the defect did not present pulsed Doppler evidence of a shunt at the ventricular level.(ABSTRACT TRUNCATED AT 250 WORDS)

Fusion of the testis with adrenal remnants is a relatively common incidental finding during orchidopexy. Splenogonadal fusion has been described in several cases. Herein the authors report a case of hepatogonadal fusion. To their knowledge, this is the first such case in the literature. Ectopic liver tissue has been encountered in a variety of locations, but had not been found in a testicle. The trapping of hepatocyte-destined mesenchyma in different areas may explain the presence of heterotopic liver tissue in different organs. If these cell aggregates are trapped in the area of peritoneum where the testis is forming, heterotopic liver tissue can end up in the testis.

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

An unusual case of primary bone neoplasm with histologic features of osteoliposarcoma is reported. No more than 5 cases with lesions of corresponding nature can be found in the world literature up to now; our report is the first dealing with a patient of pediatric age.

30 patients in paediatric age have been submitted to endocardial biopsy of the right ventricle, most of them affected by a dilated cardiomyopathy. Our aim was to improve knowledge on this disease using ultrastructural morphometric analysis. An enlargement of myocardial cells with granular aspects of the cytoplasm, known as cloudy swelling, was observed at histological level. Electronmicroscopy showed two main abnormalities: 1) a constant increase of the chondroma resulting in nuclear deformation and myofibrillary dislocation towards the sarcolemma. 2) disarrangement of thin (actin) and thick (myosin) myofilaments. Such myofibrillary dislocation, designated as fibrillar segregation, suggests how myocardial fibres may loose their ability to contract. The stereological study of these two ultrastructural abnormalities showed that mitochondria are increased in number and size and that the loss of contractile properties of myocardial cells can be related to myofibrillar segregation.

The authors report 6 cases of colonic stenosis (three males and three females, range of age 9 days-4 months) observed from 1982 to 1985 in the Department of Pediatric Surgery in Bambino Gesù Hospital. Three out of six have been admitted with the diagnosis of necrotizing enterocolitis soon after birth. The authors have observed 2 cases of colonic stenosis in neonatal age, 1 case aged month, both suffering from Hirschsprung's disease. A file for the diagnosis has been performed for all patients. Stenosis have been observed in the descending colon, sigmoid colon, rectosigmoid tract, multiple stenosis were present in 2 patients. In 5 patients the surgical treatment has been the removal of stenotic tract. In three patients a colostomy on transverse colon has been performed followed by abdominal perineal intestinal lowering. The authors stress the importance of anorectal manometry among investigations usually performed to exclude Hirschsprung's disease.

A case of congenital diaphragmatic paralysis is reported in an infant who died because of respiratory failure at the age of 5 weeks. The histologic findings show a dystrophy-like muscle pathology restricted to the diaphragm with a normal somatic peripheral musculature and normal phrenic nervous structures. The previous death of a male sibling because of diaphragmatic eventration suggests that this case of diaphragmatic paralysis could have been a consequence of a partial and random hypoplasia of muscle fibers, mimicking an isolated muscle dystrophy of the diaphragm.

The authors report the case of a female infant with bone marrow aplasia associated with neonatal giant-cell hepatitis. In addition to noting the exceptionality of this case, the possible interdependence of the two processes is discussed, and it is proposed that bone marrow aplasia, as in the adult, may represent a complication of viral disease (hepatitis).