[Malformative pathology and infant mortality].
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Bone and Bones↗
Biomedical subjects
R Boldrini
Publications and source records attributed to R Boldrini.
Detection of virus-like particles in liver biopsies from HCV-infected patients.
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.
Adult↗
Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report.
The term "neuronal ceroid lipofuscinosis" (NCL) describes a complex of inherited neurodegenerative conditions associated with storage of lipopigments in brain tissue. In 1989 Dyken proposed a classification of NCL based on the age, clinical symptoms, and ultrastructural aspects of the lipopigments. At the ultrastructural level it is possible to distinguish 5 different patterns of osmiophilic lipopigments: usual lipofuscin, fingerprint deposits, granular profiles, curvilinear bodies, and microtubular aggregates. The concept that each ultrastructural pattern was the counterpart of a specific clinical type has been proved not to be true. Advances in molecular genetic techniques have allowed the identification of defective genes and their protein products in several NCL clinical forms. Ceroid lipofuscin deposits may be ultrastructurally observed not only in neuronal cells, but also in several other sites, such as trophoblastic cells, thus permitting prenatal diagnosis. In spite of recent advances in immunohistochemical identification of biochemical markers, the ultrastructural identification of lipofuscinic pigments remains the gold standard to identify NCL, together with clinical aspects and respective gene defects. This study describes the ultrastructural aspects observed in 8 cases of NCL syndromes (3 juvenile, 3 infantile, 1 late infantile, and 1 congenital clinical form). In these patients, genetic analysis was also performed.
Ceroid↗
Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy.
We observed 4 children with hemimegalencephaly, (3 boys, 1 girl aged 3-7 years). One child had a linear sebaceous nevus. All patients had a similar clinical, EEG, and neuroradiologic pattern. All patients had macrocrania, hemiparesis, hemianopsia, and psychomotor retardation of variable degree. All cases had an epileptic syndrome with onset during the first days or the first months of life. The seizures were consistently similar: partial motor seizures, generally hemiclonic and asymmetric brief tonic seizures, in series, involving predominantly one side of the body, contralateral to the cerebral damage. The EEG was initially characterized by a hemihypsarrhythmia and afterward, over the malformed hemisphere, by a rather high-frequency background activity associated with almost continuous transients of spikes, sharp waves, and spike and waves that progressively involved the contralateral hemisphere. Hemispherectomy was performed in two children with sudden and complete recovery from seizures and improvement in psychomotor development. Macroscopic examination was consistent with the computed tomography (CT) scan and magnetic resonance imaging (MRI) showing pachygyria and poorly represented white matter. Histologic examination showed the characteristic absence of cortical neuronal layering, and the presence of giant neurons, neuronal heterotopias, and gliosis. For hemispherectomy to be successful, we believe prolonged EEG monitoring is needed to verify that no seizures are originating in the normal hemisphere.
Brain↗
Malignant melanotic schwannoma or schwannian melanoma?
A 43-year-old man underwent surgical removal of L4-L5 nerve root tumor which bulged to the extra and intradural spaces and extended as a dumbbell through the intervertebral foramen. Histological examination showed pleomorphic tumor cells with heavy melanin pigmentation. Most of the tumor cells were immunohistochemically positive for vimentin, S-100 protein and HMB-45 antigen; basic myelin protein was detectable in single tumor cells. Electron-microscopy revealed melanosomes in different stages of differentiation and some characteristics of Schwann cells, such as redundant basal lamina production. Taken together the tumor showed features of histological malignancy and incomplete schwannian differentiation with considerable overlap between melanoma and malignant melanotic schwannoma.
Adult↗
Unusual ultrastructural findings in giant-cell fibroblastoma.
We report on a 4-year-old boy with recurrent giant-cell fibroblastoma of the right nasal genal region. Histologic examination revealed that both lesions were constituted of spindle and stellate cells and a minor amount of multinucleated giant cells in a myxoid stroma containing cisternal-like spaces. Immunohistochemical examination revealed positivity for vimentin in both cellular components. Ultrastructural examination showed, in some spindle and multinucleated cells, two kinds of intracellular crystalline inclusions, located, respectively, in the cisternae of the rough endoplasmic reticulum and, apparently free, in the cytoplasm. To the best of our knowledge, this case, unusual for its location, is the first example of giant-cell fibroblastoma bearing intracellular crystalline inclusions.
Child, Preschool↗
Evidence for a hybrid macrophage phenotype in erythrophagocytic histiocytosis.
PURPOSE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Erythrocytes↗
Case for the panel of ultrastructural pathology.
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Adult↗
Disseminated histiocytosis with undetermined Langerhans' cells simulating an acute non lymphoid leukemia.
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.
Biopsy, Needle↗
[Neuroblastoma. Tumor rupture as an unfavorable prognostic factor].
Since there is little information regarding the possible prognostic significance of tumor rupture in localized neuroblastoma, we have analyzed the clinical courses of 163 children registered from 1979-1990 in 12 italian pediatric oncology Centers participating in the Neuroblastoma Cooperative Group of the A.I.E.O.P. (Italian Association for Paediatric Haematology-Oncology). Ten instances (6%) of tumor rupture were described. Ruptures occurred preoperatively in one child, during the operation in 9; among these 9, two were provoked by the surgeon to allow radical tumor excision, 7 were accidental. Of these 10 children, 7 relapsed at 3-25 months (median, 8 months) from diagnosis. Relapses were local in 5 children (2 of the 5 died), disseminated in one (who died), local + disseminated in one (presently alive with disease). Two local relapses were followed by bony or haematologic spread at 4 and 8 months, respectively. Of the 7 children who relapsed, 2 are alive in complete remission at 29, 100 months, respectively; two are alive with disease at 3 and 65 months, 3 died at 8, 15 and 24 months, respectively. We conclude that rupture of a localized neuroblastoma is a factor predisposing to relapse and may compromise the chance of cure. The surgeon should be aware of the risks connected with this complication and make any effort to avoid it.
Abdominal Neoplasms↗
Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report.
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.
Brain↗
[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].
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.
Child, Preschool↗
[Stenosis of the colon in childhood].
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.
Age Factors↗
Intrahepatic cholestasis by paucity of interlobular bile ducts in infancy.
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.
Alagille Syndrome↗
[A case of a "dumbbell" bronchogenic cyst].
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Bronchi↗
[Intrapancreatic lipoma: a case report].
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.
Diagnosis, Differential↗
Dilated cardiomyopathy caused by acute myocarditis in pediatric patients: evolution of myocardial damage in a group of potential heart transplant candidates.
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 (p < 0.001), and the ejection fraction increased to 56% +/- 8% (p < 0.000001).(ABSTRACT TRUNCATED AT 250 WORDS)
Acute Disease↗
[Hemangiopericytoma in childhood: presentation of an unusual clinical case].
A case of retroperitoneal Hemangiopericytoma in a 9 year old boy is presented. Hemangiopericytoma is a rare soft tissue tumor with unpredictable biological behaviour and a high local recurrency rate. Its ubiquity, the different grades of malignancy, the lack of correlation between clinical and histological feature are discussed. It is emphasized the hard preoperative diagnosis of the painless "mass", that can be reached only by histology. Increased cellularity, prominent mitotic activity, and foci of necrosis or hemorrhage suggest a malignant form rather than a benign one. Classifying Hemangiopericytoma among mesenchymal tumors, radical surgery is the treatment of choice whenever possible, associated with pre or post operative chemotherapy according to National Protocol RMS 88.
Child↗