[Lethal osteochondrodysplasia: foetopathological study of 32 cases]

The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism. To describe the malformations and dysmorphic features in lethal osteochondrodysplasias.Our study involved 32 cases of lethal fetal Osteochondrodysplasias, collected over a period of 14 years in the pathological department of Sousse.Our series consisted of 23 foetuses from a medical termination of pregnancy, 6 newborns and 3 stillbirths. The mean age of mothers was 28 years old, consanguinity was observed in 61%. 3 cases of recurrence of the disease in three families were noted. The bone abnormalities were detected in antenatal ultrasonography in 25 cases [87%] and at birth in 7 cases. Ultrasound showed micromelia in all cases, a narrow chest in 5 cases and spina bifida in 3 cases. The foetopathological exam, including a macroscopic examination, radiological and histological samples of bone, has allowed us, based on the International Classification of 2001 to classify the 32 cases of Osteochondrodysplasias in: 8cases of Achondrogenesis type I [type Parenti-Fraccaro], 3 cases of Achondrogenesis type II [Langer Saldino], 9 cases of lethal osteogenesis imperfecta, 8 cases of thanatophoric dysplasia, 4 cases of Schneckenbecken dysplasia, 2 cases of Short rib polydactyly syndrome, Majewski type and 1 case of asphyxiating thoracic dysplasia

[Holoprosencephaly: Foetopathologic study of 15 cases]

Holoprosencephaly [HPE] is a rare and serious brain anomaly of heterogeneous aetiology. Description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome. The authors report 15 cases of HPE, examined at the department of pathology of Sousse [Tunisia] over a period of 11 years. The average age of mothers was 32 years and 46% of them were primigestes. The rate of consanguinity was 45%. The population of the study was formed of 13 foeti, 12 of which arose from a medical interruption of pregnancy, and 2 newborns. The average foetal age was of 25.5 weeks of gestation. Antenatal diagnosis was performed on ultrasounds signs represented by a hydrocephalus [7 cases], a microcephaly [4 cases], a harmonious delay of growth [3 case] and a facial dysmorphy [38%] dominated by cyclopia. Neuropathologic Exam identified 13 cases of alobair HPE and 2 cases semi lobar. The HPE was isolated in 2 cases with an unknown caryotype, it was syndromic in 13 cases, associated with a chromosome abnormality confirmed in 3 observations. The neonatal outcome of this deformation remains very poor justifying the interruption of pregnancy except in the lobar forms. An exhaustive domestic inquiry is compulsory to propose to parents a most adequate genetic counselling

[ case of spinal immature teratoma]

We report a rare case of intradural immature teratoma in 2-year-old girl, interesting conus medullaris to sacrum, worsening neurological deficits. The neoplasm discovered by magnetic resonance imaging was completely resected. We describe the clinical, radiological and pathological findings of this tumor with a review of the Literature and we insist in the difficulty of treatment

[Lobular idiopathic granulomatos mastitis About 10 cases]

Our retrospective study was performed on 10 cases of granulo-matous mastitis registered in Obstetric Gynaecology Department and Pathology Department of CHU F. Hached Sousse, during 8 years period. The mean age was 36.4 years [range 32-59]. Among these 10 cases, 8 were observed in reproductive-age women and 2 were noted in menopausal women. Clinical findings showed unilateral breast nodule associated with inflammatory signis in 4 cases, mammelonary retraction in 2 cases and serous or sero-purulent mamelonnary flow in 4 cases. Mammographic examination suggested a malignant tumor in 5 patients. In all cases, the diagnosis is made by histopathology. Surgical treatment consisted in wide excision with drainage or radical mastectomy, eventually with combination with antibiotic therapy and non steroid anti-inflammatory drugs. Prognostic features showed a good cicatrisation in 4 cases, local recurrence and cutanonus fistulization in one patient. Granulomatous mastitis aetiology is still unclear, auto-immune aetio-pathologenesis appears more interesting and should be clarified

[Prevalence of high risk oncogen HPV by in situ hybridization and by PCR in condyloma acuminata in the region of the Tunisian center]

The aim of this study was to evaluate the frequency of "high-risk" HPV types in condyloma acuminata in patients from Tunisian Center. Thirty two paraffin-embedded biopsies were analyzed for the presence and type of HPV DNA by means of in situ hybridization [ISH] and polymerase chain reaction [PCR] techniques. ISH was done using a broad spectrum HPV biotinylated DNA probe for the detection of HPV DNA. HPV typing was carried out using specific probes for HPV types 6/11, 16/18 and 31/33. HPV DNA was amplified by PCR using the degenerate primers E1350L/E1547. HPV were typed by pU-1M/PU-2R primers for the oncogenic HPV types 16, 18, 31 and 33, and PU-31B/PU-2R for "low-risk" group [6 and 11]. Using ISH, HPV was detected in 27 out 32 cases [84.4%]. All were HPV 6/11 positive. Co-infection with oncogenic HPV was found in one case that reacted with 16/18 and 31/33 probes. Good quality DNA was obtained in 13 cases. HPV was detected by PCR in 11 of 13 specimens [80.6%] when E1350L/E1547 primers were used. HPV 6/11 were present in all cases. The results of this study provide specific confirmation of the predominance of HPV6/11 and low rate of co-infection in patient from Tunisian Center. Because of the difficulty of DNA extraction, risk of DNA degradation and contamination associated with PCR, the ISH remains more adapted to archival materiel especially in routine clinical practice

[Primary myxoid leiomyosarcoma of the ovary, a case report with review of the literature]

A case of primary myxoid leiomyosarcoma of the ovary in a 50-year-old Tunisian woman is presented. Bilateral salpingooophorectomy and hysterectomy were carried out without any adjuvant therapy. The tumour were investigated histologically and immunohistochemically. Smooth-muscle actin and progesterone receptors was strongly demonstrated in neoplastic cells, bcl-2 was weakly and diffusely demonstrated. Relevant literature is reviewed based on the histologic and immunohistochemical features with emphasis on diagnosis and therapeutic problems and prognosis indicators