[Neonatal hemochromatosis]. / Hémochromatose néonatale.

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.

[Congenital hepatic fibrosis. Five cases with late occurrence in adults]. / Fibrose hépatique congénitale. Cinq cas à révélation tardive chez l'adulte.

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.

Digeorge syndrome with total monosomy 22 diagnosed prenatally.

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.

[Well-differentiated papillary mesothelioma of the peritoneum: an attenuated malignant tumor. Review of the literature apropos of a case]. / Le mésothéliome péritonéal papillaire bien différencié: une tumeur à malignité atténuée. Revue de la littérature à propos d'un cas.

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.

[Endosalpingosis or microcystic and proliferating glandular inclusion disease of the genital tract and peritoneum. Apropos of 6 cases]. / L'endosalpingiose ou maladie des inclusions glandulaires microkystiques et proliférantes du tractus génital et du péritoine. A propos de six observations.

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.

[Borderline lesions of the breast: clinical and radiological study of 20 cases]. / Les lésions frontières du sein: étude clinique et radiologique de 20 cas.

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.

[Granulomatous lesions of the breast. Their role in inflammatory breast pathology and their relations to lobular granulomatous mastitis]. / Les lésions granulomateuses du sein. Leur place dans la pathologie inflammatoire mammaire et leurs relations avec la mastite granulomateuse lobulaire.

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.

[Acute myeloblastic leukaemia following Ewing's sarcoma: iatrogenic complication? (author's transl)]. / Leucémie aiguë myéloblastique après sarcome d'Ewing: complication iatrogène?

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.

[Unusual involvement of the CNS in a case of neuro-sarcoidosis (author's transl)]. / Extension inhabituelle d'une sarcoïdose intranévraxique.

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.

[Tuberculous abscess of the central nervous system (author's transl)]. / Abcès tuberculeux du névraxe. Revue de la littérature sur dix ans.

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.