Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed microcephaly, skin infiltration and equinovarus feet. MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum. The propositus, a boy, died soon after birth at term. In Case 2, fetal ultrasound study performed at 16 weeks of gestation disclosed skin infiltration. MRI at 22 weeks of gestation showed microcephaly with agenesis of corpus callosum and cerebellar hypoplasia. Pregnancy was terminated at 22 weeks of gestation. The fetus had normal 46, XY karyotype and similar anomalies found in the index case, with cranio-facial edema and arthrogryposis. X-ray films showed epiphyseal stippling of cervical vertebrae, feet and sacrum. Metacarpal bones were shortened with hypoplastic distal phalanges. Neuropathological findings were concordant with the pattern described in type III lissencephaly: an agyric brain with hypoplastic brain stem and cerebellum, severe neuronal loss of the cortical plate, matrix zone, basal ganglia, brainstem nuclei and spinal cord with axonal swelling and microcalcification. This entity seems to be a new syndromic lissencephaly type III, because of epiphyseal calcifications and metacarpophalangeal bone dysplasia.

Tubulovillous adenoma of the vulva.

BACKGROUND: We report the second case of enteric-type villous adenoma of the vulva. The differential diagnosis, histogenesis, and pathogenesis are discussed. CASE: A 66-year-old woman had a tumor resected from the posterior aspect of the vulva. The tumor was characterized by its villous architecture, with columnar epithelium and goblet cells. This vulvar tubulovillous adenoma was identical to a tumor resected 6 months before from this patient's rectal wall. CONCLUSION: These two tumors behaved benignly, and the vulvar adenoma possibly originated with the müllerian vestige.

[Granulosa cell tumour: review of the literature]. / Tumeur à cellules de la granulosa: revue de la littérature.

Granulosa cell tumours account for only 5% of ovarian malignancies and there is currently no standard treatment. It is considered as a low-grade malignancy with a favorable prognosis but relapse and extraovarian spread may occur as late as 20 years after diagnosis. It is thus important to better define the characteristics and prognostic factors of this histological subtype in order to recommend appropriate therapy. We performed a review of the literature. This disease is most commonly diagnosed in patients around 50 years old or at puberty. In most cases patients present identical symptoms associated with endometrial hyperplasia or neoplasia. Call-Exner bodies and "coffee bean" cells are characteristic of the histopathology of these tumors. Various prognostic factors are currently being evaluated. Surgery is the treatment for local disease. Patients with locally advanced, recurrent or metastatic tumors require chemotherapy, although the optimal regimen remains to be determined.

[Pure embryonal carcinoma of the ovary. A review of the literature apropos of a case]. / Carcinome embryonnaire pur de l'ovaire. Revue de la littérature à propos d'un cas.

A 25-year-old woman with a stage IA pure embryonal carcinoma of the left ovary, without elevated serum markers namely AFP and HCG (nor-positive immuno-histologic marking at the later pathological analysis) underwent surgery alone (unilateral salpingo-oophorectomy). She relapsed seven weeks later with peritoneal carcinomatosis. She still did not have elevated tumor markers. She then received five courses of a cis platinum-based chemotherapy (bleomycin, etoposide and cisplatinum, BEP) and achieved pathological complete response (as attested by a coelioscopic third look). This response is still lasting, fourteen months after the end of the procedure. Malignant ovarian germ cells tumors account for 2 to 5% of all ovarian cancers and embryonal carcinoma is rare. It may be associated with high serum levels of AFP and/or HCG, but not when the embryonal carcinoma is really pure. These markers are very helpful for patient follow-up but not in our patient's history. These tumors offer a very good chemosensitivity especially when treated with cisplatinum. This treatment dramatically improved their prognosis and extensive debulking surgery is yet unnecessary. Some questions still remains is there any specificity for embryonal carcinoma within malignant germ cell tumors of the ovary group? What is the best treatment for stage IA disease? When is a surgical second look (or a third look as for our patient) justified?

[Olfactory esthesioneuroma manifesting as Schwartz-Bartter syndrome]. / Esthésioneurome olfactif révélé par un syndrome de Schwartz-Bartter.

INTRODUCTION: Olfactory esthesioneuroblastoma is an uncommon neuroectodermal tumor originating from the olfactory epithelium, which is rarely associated with hormone excess syndrome. EXEGESIS: Asymptomatic olfactory esthesioneuroblastoma was diagnosed in a 22-year-old man who presented a syndrome of inappropriate antidiuretic hormone secretion. Following surgery, the immunohistochemical analysis demonstrated the existence of neurophysin hormone in tumoral cells. CONCLUSION: This case provides evidence that olfactory esthesioneuroblastoma can be uncovered by inappropriate antidiuretic hormone secretion.

[Immunohistochemical identification of olfactory esthesioneuromas. Apropos of 16 cases]. / Identification immunohistochimique des esthésioneuromes olfactifs. A propos de 16 observations.

We report anatomoclinical and immunohistochemical analysis of sixteen cases of esthesioneuroblastomas. Microscopic study confirm difficulty of diagnostic for this tumors. Results of S 100 protein reaction for Schwann cells identification, NSE and HNK1 reaction for nervous cells and KL1 reaction for epithelial cells drawn from olfactory mucosa, allow definition of immunologic ENO profile. Pattern immunologic criteria are defined by S 100, NSE or/and HNK1, and eventually KL1 positive reactions permit differential diagnosis with other nervous tumors or undifferentiated carcinomas of nasal fossa. Histo-prognostic patterns are defined by S 100 reactivity distributed in neoplastic cells and cytoplasmic process of cells, to form a continuous network in well differentiated ENO and discontinuous network in undifferentiated forms of ENBO. These results confirm histogenesis of this tumor derived from olfactory mucosa and emphasized only two distinct types: neuro epithelial tumors corresponding to ENEO and cases of ENBO and nervous tumors grouping ENCO and any cases of ENBO.

[Extra-pulmonary lymphangiomyomatosis presenting as an exudative enteropathy with a rapid fatal course]. / Lymphangiomyomatose extra pulmonaire révélée par une entéropathie exsudative d'évolution rapidement fatale.

We report a case of lymphangiomyomatosis (LAM) which occurred in a twenty six year old woman, presenting with protein losing enteropathy and pancreatic fibrosis due to lymphostasis. Despite having no pulmonary lesion, the patient died quickly. The proliferation of smooth muscle involved the mesenteric, peripancreatic lymphatic channels but also the submucosal lymphatic vessels of the duodenum. Only one other case of LAM presenting with protein losing enteropathy has been reported, in which there were no abnormalities in the intestinal tractus or in the pancreas.

[A case of aggressive juvenile fibromatosis of the mandible. Review of the literature]. / Un cas de fibromatose juvénile agressive de la mandibule. Revue de la littérature.

We report a new case of aggressive juvenile fibromatosis (A.J.F.) in a 20-month-old girl. The lesion affected the inferior border of the left mandible and the adjacent soft tissues. The child presented with a painless mass, which had grown over a period of 2 months. Radiographs and computed tomographic scan showed a multilacunar bone defect with subcutaneous and gingival involvement. A biopsy was performed, followed by a partial hemimandibulectomy and a costal graft. The surgical specimen measured 4 X 3 X 3 cm. The patient did well 1 year after surgery. 16 cases of A.J.F. have been reported; with ours, 14 are mandibular. A.J.F. is a locally aggressive lesion, which doesn't metastasize. It occurs chiefly in childhood and adolescence from 1 1/2 to 18 years (median 6.5 year-old). Duration of symptoms prior to presentation varies from a few weeks to months. Clinically, it is a firm nodule. Radiographs are non-specific, but 9 cases have poorly defined destruction of the mandibular inferior border. Following a block resection of the tumor (13 cases), there is no recurrence. In this review, we discuss the clinico-pathologic diagnosis of this impressive tumor which is compared with other mandibular fibrous tumors in children.

[Cystic lymphangioma of the mediastinum. 2 personal cases and a review of the literature]. / Lymphangiomes kystiques du médiastin. 2 cas personnels, revue de la littérature.

Two mediastinal lymphangiomas (KLM) are described, in 36 and 41 year-old women. They presented as an incidental finding on chest radiograph. The mediastinal mass was anterior or posterior, compressing the adjacent vital structures, and cystic on computed tomography. The complete surgical removal was possible, but complicated by the size (12 x 7 x 4 cm and 10 x 7 x 5 cm), the hypervascularization and the infiltrative tendency of the lesions. The patients are well 36 and 30 months after removal. We compare these cases with 109 previously reported. They account for 1 p. 100 of the whole lymphangiomas and for 0.5 to 4.5% of all mediastinal tumours. The congenital or infantile cervico-mediastinal lymphangiomas are more frequent (10%). The general signs, symptoms, pathological findings, treatment and pathogenetic theories are discussed.

[Contribution of thoracoscopic brushing to the diagnosis of pleural diseases]. / Apport du brossage par thoracoscopie au diagnostic des affections pleurales.

Pleural brushing can be performed under thoracoscopic examination. The combined use of all three methods of diagnosis (macroscopy, biopsy, cytology) achieved optimal diagnostic results. From September 1980 to October 1981 we have performed 150 thoracoscopies for pleural effusions, while the results of conventional pleural cytology and biopsy were negative. In 108 cases pleural brushing and biopsy were both performed. The diagnosis was in 37 cases non malignant diseases states associated with effusions and in 71 cases tumoral effusions. Among the 37 cases of non malignant diseases states associated with effusions were: 6 mechanical effusions, 27 inflammatory processes, 4 infectious processes. Among the 71 cases of tumoral effusions were 3 benign pleural lipomas, 50 metastatic carcinomas, 18 carcinomatous mesotheliomas. We studied the diagnostic accuracy of pleural brushing: in non malignant diseases, pleural brushing show the non tumoral features of the process, in metastatic tumours, biopsy was positive in 80% of the cases; pleural brushing in 78% of cases; taken together they allowed the diagnosis in 86% of the cases, in carcinomatous mesotheliomas biopsy was positive in 82,3%, pleural brushing in 78%; taken together they allowed the diagnosis in 89% of the cases. Pleural brushing allows a rapid cytological diagnosis, enhances the histological results and may also be used to get cellular material in areas dangerous to biopsy.

[Histopathologic study of melanoma of the choroid after proton therapy]. / Etude histopathologique des mélanomes choroïdens après protonthérapie.

To evaluate irradiation effects on choroidal melanomas, histopathologic findings of 18 eyes whose primary treatment was enucleation were compared to 15 eyes enucleated after proton beam irradiation. Irradiated tumors showed more likely necrosis (p = 0.01) had balloon cells (p = 0.01), and inflammatory infiltrate (p = 0.05). In the irradiated group, the prevalence of tumor blood vessel damage was higher (p = 0.0002) and mitotic figures were fewer (p = 0.01). These findings suggest that proton beam irradiation damages tumor cells and alters the tumor's capacity for cellular reproduction. It damages blood vessels leading to tumor necrosis. It induces an inflammatory response of unknown effects. Radiosensitivity of choroidal melanomas cannot be assessed using conventional histologic methods. However, tumor necrosis, mitotic activity and rate of balloon cells can help to establish tumoral sensitivity to irradiation.

[Use of diode laser in transcleral retinal photocoagulation]. / Utilisation du laser à diode dans la photocoagulation rétinienne transsclérale.

Transscleral retinal photocoagulation using a diode laser emitting infrared radiation (810 nm) was performed on 8 rabbits. Examination was performed at 2 days, one month and three months after photocoagulation. The retinal burns were examined by light and electron microscopy and were found to be similar to those produced by argon and krypton photocoagulations. Histopathologic evaluation of the lesions demonstrated an intact sclera overlying the chorioretinal lesions. The results of the present experimental study support the hypothesis that transsccleral retinal photocoagulation using diode laser in selected indications may be a valuable alternative to cryotreatment and diathermy in the human eye. The absence of scleral damage and pigmented epithelium cell dispersion as well as the decreased break down of the blood ocular barrier after transscleral diode laser photocoagulation are the main advantages of the technique as compared to transscleral diathermy and cryotreatment.

[The antenatal diagnosis before 20 weeks of an omphalocoele and a failure of development of the abdominal wall (author's transl)]. / Diagnostic anténatal avant 20 semaines d'une omphalocèle et d'un laparoschisis.

We report 2 cases of malformations occuring in the region of the umbilicus which were diagnosed by amniocenteses before the 20th week of pregnancy (with levels of alphafetoprotein) and echography. Failure of development of the abdominal wall was only diagnosed for certain after the therapeutic abortion had been carried out. The omphalocoele was diagnosed for certain by echography at the 19th week after anencephaly and spina bifida had been eliminated in spite of an abnormally high rise in the level of amniotic fluid alphafetoprotein (100.000 microgram/l). We have not found any similar cases in the literature at this gestational age. These observations prove the value of combining the estimation of alphafetoprotein level in the amniotic fluid when making antenatal diagnoses because of the age of the mother (after the age of 38), with echography specially directed to searching for such apparent morphological abnormalities.

[Pulmonary metastases from a hormone-induced clear cell adenocarcinoma of the vagina]. / Métastases pulmonaires d'un adénocarcinome vaginal à cellules claires hormon-induit.

The authors report the case of a patient aged 27 suffering from a clear cell adenocarcinoma of the vagina which was related to her mother taking Diethylstilboestrol or Distilbene (DES) during her pregnancy. This young woman presented with pulmonary metastases for which several trials of chemotherapy ended in failure. The case raises several problems amongst which are epidemiologies of cancers induced by Diethylstilboestrol (DES), their prognosis as well as the therapeutic strategies at the time of diagnosis and the recurrences which occur as metastases.

[Thoracoscopy with pleural brushing. A new diagnostic method for pleural diseases]. / La thoracoscopie avec brossage pleural. Un nouveau mode diagnostique des affections de la plèvre.

Pleural brushing can be performed under thoracoscopic examination. The combined use of all three methods of diagnosis (macroscopy, biopsy, cytology) achieved optimal diagnostic results. From September 1980 to October 1981 we have performed 150 thoracoscopies for pleural effusions, while the results of conventional pleural cytology and biopsy were negative. In 108 cases pleural brushing and biopsy were both performed. The diagnosis was in 37 cases non malignant disease states associated with effusions and in 71 cases tumoural effusions. Among the 37 cases of non malignant diseases states associated with effusions were 6 mechanical effusions, 27 inflammatory processes, 4 infectious processes. Among the 71 cases of tumoural effusions were 3 benign pleural lipomas, 50 metastatic carcinomas, 18 carcinomatous mesotheliomas. We studied the diagnostic accuracy of pleural brushing: in non malignant diseases pleural brushing show the non tumoural features of the process, in metastatic tumours biopsy was positive in 80% of the cases; pleural brushing in 78% of cases; taken together they allowed the diagnosis in 86% of the cases, in carcinomatous mesotheliomas biopsy was positive in 82.3%, pleural brushing in 78%; taken together they allowed the diagnosis in 89% of the cases. Pleural brushing allows a rapid cytological diagnosis, enhances the histological results and may be used to get cellular material in areas dangerous to biopsy.

[Surgery of a voluminous palatal Kaposi's sarcoma developing in AIDS]. / Traitement chirurgical d'un volumineux sarcome de Kaposi palatin développé dans le cadre d'un SIDA.

The authors report of a case of voluminous palate Kaposi's Sarcoma in a patient with A.I.D.S. Oral Kaposi's Sarcoma occurs in a large percentage of patients with A.I.D.S. (30 to 50%). The therapeutic of this voluminous Kaposi's Sarcoma is not easy. Surgery is the best therapeutic it can bring, as in this case, functional and durable effect.

[Condylar osteochondroma: apropos of 3 cases with arthritic lesions]. / Ostéochondromes condyliens: à propos de 3 observations avec lésions arthrosiques.

Three cases of osteochondroma of the mandibular condyle were observed with arthrosis type lesions. Based on a review of the literature, the epidemiologic, symptomatologic, pathologic and diagnostic characteristics of this rare benign tumour with facial localization are presented together with the therapeutic approach.

Endometrial carcinoma of the intestinal type. A first case report.

A primary endometrial adenocarcinoma is reported that showed abundant foci suggestive of pathologically differentiated intestinal epithelium. The tumor epithelium was composed of four main cell types. Columnar cells resembled absorptive intestinal cells and displayed glycocalyceal carcinoembryonic antigen immunostaining; mucin-producing cells and a few Paneth-like lysozyme-rich cells were irregularly distributed; a massive quantity of argyrophil cells including a few amphicrine (muco-argyrophil) ones, were detected by Grimelius-Alcian blue method. Immunocytochemical evidence was obtained for the storage of serotonin, somatostatin and gastrin/cholecystokinin in some of the endocrine cells. These findings suggest that the tumor arose from a pluripotential stem cell of the glandular epithelium.

[Enormous lingual lymphangioma]. / Lymphangiome lingual monstrueux.

The authors report a huge lymphangioma of the tongue in a sixty-seven years old female patient. The remarkable progression in dimensions of this lesion, leading to the inevitable protrusion of the tongue, led to the realization of an extended glossectomy, with a functional objective in mind. This simple procedure showed an excellent five years follow-up results. From this case report, the authors stress up on the etiopathogenic, pathological, clinical as well as therapeutic aspects of lingual lymphangioma.

Perhexiline maleate-induced hepatitis.

5 patients treated with perhexiline maleate, 200-400 mg/day for at least 6 months, exhibited evidence of hepatitis. The picture was very similar to acute alcoholic hepatitis, clinically, biologically and histologically with presence of necrosis, Mallory's hyaline, polynuclear infiltration and to a lesser degree, steatosis. Association with peripheral neuropathy, hypoglycemia, and renal failure appears strikingly frequently. The evolution was severe since 3 patients died within 6 months, even after treatment withdrawal. Further studies are to be done to understand the mechanisms of hepatic and neurologic toxicity, and to measure the hazards of this drug. These studies could bring a new insight to alcohol toxicity.