ABSTRACT
UNLABELLED: Neonatal hemochromatosis is characterized by abnormal hepatic and extrahepatic iron overload, which spares the reticuloendothelial system. In neonates, hemochromatosis results in an acute and frequently lethal liver failure. CASE REPORTS: We report five cases of neonatal hemochromatosis which demonstrate various aspects of this disorder and underline the complexity of both the diagnosis and treatment. Case 3 had an extremely low arterial pressure, a presentation not yet described. CONCLUSION: Neonatal hemochromatosis should be suspected in the presence of cholestasis with liver failure of perinatal onset and with high blood level ferritin. Abdominal nuclear magnetic resonance and/or liver biopsy can confirm neonatal hemochromatosis. For one of our patients, a medical treatment allowed us to perform a liver transplantation.
Subject(s)
Hemochromatosis/pathology , Infant, Newborn, Diseases/pathology , Liver Transplantation , Diagnosis, Differential , Female , Hemochromatosis/diagnosis , Hemochromatosis/therapy , Humans , Infant , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/therapy , Iron/blood , Liver Failure/etiology , Magnetic Resonance Imaging , MaleABSTRACT
Congenital hepatic fibrosis (CHF), is an autosomal recessive disease, presenting principally in childhood with portal hypertension and/or cholangitis, and often associated with renal malformations. The forms presenting later in adults are rare, and illustrated herein by 4 cases with dominant cholangitis, and one latent form. Biological tests and radiological imaging are often normal. The histopathologic diagnosis, sometimes difficult on liver needle biopsy is based on fibrous enlargement of portal areas, with numerous and tortuous bile ducts, lined by regular, cuboidal epithelium. Interportal fibrosis can mimic cirrhosis. In CHF, cholangitis are favoured by intrahepatic biliary dilatation, sometimes related to Caroli's disease, associated in 25% of cases. Suppurative complications, sometimes fatal explain the severity of cholangitis forms of CHF, contraindicating inopportune cholangiography and biliary surgery.
Subject(s)
Genes, Recessive , Liver Cirrhosis/congenital , Age of Onset , Aged , Aged, 80 and over , Biopsy, Needle , Female , Humans , Liver Cirrhosis/genetics , Liver Cirrhosis/pathology , Male , Middle AgedABSTRACT
A case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy revealed several abnormalities associated with DiGeorge syndrome.
Subject(s)
Chromosomes, Human, Pair 22 , DiGeorge Syndrome/diagnostic imaging , Monosomy , Ultrasonography, Prenatal , Adult , DiGeorge Syndrome/genetics , Female , Fetal Diseases/diagnostic imaging , Fetal Diseases/genetics , Humans , PregnancyABSTRACT
The authors present a new case of a well-differentiated papillary mesothelioma of the peritoneum. This is an uncommon tumor which have a slow evolution like a low malignant potential tumor. But, because of its tendency to recurrence, the designation of Well-Differentiated Tumor is better. The diagnosis with others peritoneal tumors is sometimes difficult, especially with the Peritoneal Serous Tumors. Tumor recurrence must be treated by curative surgery. Adjuvant therapy is discussed for the diffuse form.
Subject(s)
Carcinoma, Papillary/diagnosis , Mesothelioma/diagnosis , Neoplasms, Second Primary , Peritoneal Neoplasms/diagnosis , Carcinoma, Papillary/therapy , Combined Modality Therapy , Diagnosis, Differential , Female , Humans , Mediastinal Neoplasms/diagnosis , Mesothelioma/therapy , Middle Aged , Neoplasms, Glandular and Epithelial/diagnosis , Neoplasms, Second Primary/diagnosis , Neoplasms, Second Primary/therapy , Ovarian Neoplasms/diagnosis , Pelvic Exenteration , Peritoneal Neoplasms/therapy , PrognosisABSTRACT
Endosalpingosis, defined by the presence in an ectopic site of epithelium comparable to that of the tubal mucosa, is not a well-known entity. In reference to 6 cases of our department, the authors have been able to assess this lesion. Clinical manifestations and laboratory tests offer no arguments. Cytology represents a diagnostic trap. The diagnosis may only be made histologically and is very often fortuitous. This benign lesion is often the result of a metaplasic process but, considering the difficulty of the diagnosis, the treatment is often surgical (total hysterectomy with castration). The course is uneventful.
Subject(s)
Endometriosis/pathology , Fallopian Tube Neoplasms/pathology , Peritoneal Neoplasms/pathology , Adult , Cysts/pathology , Diagnosis, Differential , Female , Humans , Inclusion Bodies/pathology , Middle Aged , Neoplasm Invasiveness , Ovarian Neoplasms/pathologyABSTRACT
We describe the clinical and mammographic signs observed in 20 patients with atypical hyperplasia of the breast. The clinical signs include abnormalities noted at palpation (tumefaction, masses, clusters of nodules) and nipple discharge. The mammographic signs include rounded, clearly delineated opacities with benign appearances, or spiculated masses possibly associated with microcalcifications, stellate opacities, and isolated foci of microcalcifications. Galactography may visualize milk ducts dilatation. Both the clinical and mammographic signs are non-specific and even equivocal and do not allow pre-operative diagnosis of non-specific lesions.
Subject(s)
Breast Diseases/diagnostic imaging , Mammography , Adult , Aged , Breast Diseases/pathology , Breast Diseases/surgery , Breast Neoplasms/diagnostic imaging , Diagnosis, Differential , Female , Humans , Hyperplasia , Middle AgedSubject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Neuroectodermal Tumors, Primitive, Peripheral/drug therapy , Nose Neoplasms/drug therapy , Adolescent , Bone Marrow Transplantation , Child , Child, Preschool , Combined Modality Therapy , Cyclophosphamide/administration & dosage , Doxorubicin/administration & dosage , Female , Humans , Male , Nasal Cavity , Neuroectodermal Tumors, Primitive, Peripheral/radiotherapy , Nose Neoplasms/radiotherapy , Vincristine/administration & dosageABSTRACT
The authors summarise the clinical notes and histological findings of 17 patients who had inflammatory changes in their breasts and in whom biopsies showed epithelioid granulation tissues with giant cells. Three separate histological tables have been prepared as well as a review of the literature. The paper shows that mixed granulomatous conditions exist, with the sites of the changes being both in the canals and in the lobules. This gives rise to a discussion about the separateness of the condition, which is presumed to be of an autoimmune origin. It is pointed out that there can be an infectious element present.
Subject(s)
Breast Diseases/pathology , Breast/pathology , Granuloma/pathology , Mastitis/pathology , Abscess/complications , Adult , Aged , Biopsy , Breast Diseases/complications , Female , Granuloma/complications , Humans , Middle AgedABSTRACT
A seven-year-old child treated for a Ewing's sarcoma of the pelvis with a combination of radiotherapy and sequential polychemotherapy (vincristine, cyclophosphamide, adriamycine and procarbazine), developed an acute myeloblastic leukaemia fourty-one months later. The leukaemia was preceded by a ten-month period of isolated moderate neutropenia. Several possible explanations of the aetiology of this association are discussed, with particular emphasis on current concepts of the histogenesis of Ewing's sarcoma, and more particularly the possible role of radiotherapy and cytotoxic treatment in the induction of acute leukaemia.
Subject(s)
Bone Neoplasms/therapy , Ilium , Leukemia, Myeloid, Acute/etiology , Sarcoma, Ewing/therapy , Alkylating Agents/adverse effects , Bone Neoplasms/pathology , Child , Humans , Leukemia, Myeloid, Acute/pathology , Leukemia, Radiation-Induced , Male , Sarcoma, Ewing/pathologyABSTRACT
A case of tuberculous abscess of the cerebellum is reported by the authors. A check-up of concerned literature of ten-past years is drawn up. Diagnosis is seldom raised before surgery in spite of former or evolved tuberculosis. Histology and bacteriology are essential for a supportive therapy. The prognosis is favorable in seventy three per cent of the cases. This pathology must not be forgotten in patients who imigrate from countries of high endemic level of tuberculosis.
Subject(s)
Central Nervous System Diseases/diagnosis , Tuberculoma/diagnosis , Central Nervous System Diseases/pathology , Cerebellar Diseases/diagnosis , Female , Humans , Male , Middle Aged , Pregnancy , Prognosis , Tuberculoma/pathologyABSTRACT
A peculiar case of neuro-sarcoidosis is reported. Clinical symptoms associated ocular dysfunction, hypopituitarism due to hypothalamic disorders, hypersomnia and alveolar hypoventilation. Dynamic tests have proved hypothalamic involvement. The patient died swiftly and suddenly. Neuropathological examination showed typical granuloma consistent with sarcoidosis mainly distributed to the area of the third ventricle and spread hyperplastic gliosis of pons and medulla.