[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

Review of 32 gastro-intestinal stromal tumours with CD117

The Aim of this study is to review clinical data, histological and immunohistochemical findings and prognosis of stromal gastrointestinal tumors. A retrospective Study of 32 cases of stromal gastrointestinal tumors diagnosed in the Department of Pathology of Mongi Slim Hospital of Tunis from 1991 a 2004. The average age of the patients was of 54, 4 years, equal for sex. Tumors were essentially gastric [50%] and of the small intestine [37, 5%]. All the patients had surgical treatment. Gastro-intestinal Stromales Tumors or GIST represent the most frequent stromale tumor with 56, 2% of cases. After immunohistochimestry study, using CD117, this revision allows better management of GIST. Glivec +/- is the standard treatment of advanced GIST

[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

[About a uncommen trichoepithelioma: the giant solitary trichoepithelioma]

A case of giant solitary trichoepithelioma of the perianal region is described so to drow attention to this rare benign neoplasme and to discuss its clinical and histopathologycal caracteristics

[Inflammatory fibroid polyp of the ileum presenting as intussusception: a case report in an adolescent]

Inflammatory fibroid polyp is an uncommon and benign submucosal lesion of the gastrointestinal tract. The maximal incidence is in the fifth and sixth decades. The main histological characteristics are diffuse inflammatory infiltrate with eosinophils and highly vascularized fibrocystic stroma. We report a case of 15-year-old woman who underwent emergency surgery because of acute intestinal obstruction as a results of an intussusception. The macroscopical study after segmental ileal resection showed a nodular lesion 3x2x2 cm, arising from the submucosa with an ulcerated surface. The pathologic diagnosis was ileal inflammatory fibroid polyp. Immunohistochemically, the cells reacted with vimentin and CD34. It has no malignant potential although extensive infiltration may occur. The aetiology is unknown. We prepose to discuss the clinical, the pathological aspects and the possible aetiological factors of the inflammatory fibroid polyp

[Intestinal T cell lymphoma in coeliac disease: a case report]

Primary intestinal T-celI lymphomas account for about 5% of all primary gastrointestinal lymphomas and are mostly associated with coeliac disease. Intestinal lymphomas are usually discovered during the 4 th to5 th decade and constitute an exceptional complication of coeliac disease. This lymphoma is generally a high grade pleomorphic cell lymphoma with large cells. Our case concerned a 30 year old woman with a history of coeliac disease who developed a gastro-enteromesenteric lymphoma. Anatomopathological and immunohistochemical analysis showed an enteropathy associated T-cell lymphoma. We suggest that patients with coeliac disease unresponsive to a gluten free diet or with deteriorating clinical condition be investigated for complications such as enteropathy associated T-cell lymphoma. It is also important to avoid this complication by detecting asymptomatic form of coeliac disease that needs a gluten-free diet