[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. / Les ostéochondrodysplasies létales: etude foetopathologique de 32 cas.

BACKGROUND: The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism. AIMS: To describe the malformations and dysmorphic features in lethal osteochondrodysplasias METHODS: Our study involved 32 cases of lethal fetal Osteochondrodysplasias, collected over a period of 14 years in the pathological department of Sousse. RESULTS: 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 feto-pathological 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: 8 cases 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 antigen]. / Revision de 32 tumeurs mesenchymateuses gastro-intestinales avec le CD117.

AIM: The aim of this study is to review clinical data, histological and immunohistochemical findings and prognosis of stromal gastrointestinal tumors. METHODS: A retrospective Study of 32 cases of stromal gastrointestinal tumors diagnosed in the Department of Pathology of Mongi Slim Hospital of Tunis from 1991 to 2004. RESULTS: 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 Stromal Tumors or GIST represent the most frequent stromal tumor with 56.2% of cases. CONCLUSION: After immunohistochimestry study, using CD117 antigen, this revision allows better management of GIST. Glivec is the standard treatment of advanced GIST.

Schneckenbecken dysplasia in fetus: report of four cases.

Several different types of lethal short-limbed skeletal dysplasia with platyspondylia have been recognized with a different mode of inheritance. Schneckenbecken dysplasia, a very rare lethal osteochondrodysplasia, is included in these entities, with an autosomal recessive mode of inheritance. We describe 4 new Tunisian cases with clinical, radiographic and histopathological features. The fetuses were of consanguineous parents. Prenatal diagnostics of short limbs were carried out on ultrasounds at 20, 22, 23 and 28 weeks of gestation. The radiographic findings were typical, showing especially the small ilia with medial snail-like projection. The chondro-osseous histology of the 4 cases was compatible with the diagnostics demonstrating cartilage anomalies characterized by hypercellularity, hypervascularisation and chondrocytes with central large round nucleus. Schneckenbecken dysplasia should be considered when the phenotype of dwarfism and snail feature of iliac bone associated with histological finding are presented. Frozen fetal samples should be taken in order to look for candidate genes.

[Holoprosencephaly: foetopathologic study of 15 cases]. / Les holoprosencéphalies: etude foetopathologique de 15 observations.

BACKGROUND: Holoprosencephaly (HPE) is a rare and serious brain anomaly of heterogeneous aetiology. AIMS: description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome METHODS: The authors report 15 cases of HPE, examined at the department of pathology of Sousse (Tunisia) over a period of 11 years. RESULTS: 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 (3cas) 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. CONCLUSION: 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.

[An uncommon trichoepithelioma: the giant solitary trichoepithelioma]. / A propos d'une forme rare de trichoépithéliome: le trichoépithéliome giant solitaire.

A case of giant solitary trichoepithelioma of the perianal region is described so to draw attention to this rare benign neoplasme and to discuss its clinical and histopathological chracteristics.

[Inflammatory fibroid polyp of the ileum presenting as intussusception: a case report in an adolescent]. / Polype fibro-inflammatoire de l'intestin grele revele par une invagination intestinale aigue: a propos d'un cas chez une adolescente.

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 patient who underwent emergency surgery because of acute intestinal obstruction as a result 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 etiology is unknown. We discuss the clinical, the pathological aspects and the possible etiological factors of the inflammatory fibroid polyp.

[Hepatic mesenchymal hamartoma in adulthood: a case report with literature review]. / Hamartome mesenchymateux du foie chez l'adulte: a propos d'un cas avec revue de la littérature.

Mesenchymal hamartoma is a rare and benign tumor.. Representing 5 to 8 % of children's hepatic tumors, it is rarely described in adults. Authors report a new case of hepatic mesenchymal hamartoma in a 21-year-old woman, diagnosed after a sudden onser of clinical and biological cholestasis. Abdominal US and CTscan exminations showed a medial liver tumor with cystic formations suggestive of a hydatid cyst. The diagnosis of hepatic mesenchymal hamartoma was based onn hitology of the resected liver specimen. Radiological findings can suggest the diagnosis but only histology can confirm it. Treatment is surgical involving in most of the cases; a wide hepatic resection because of the size of the tumor. Progosis is excellent when complete exeresis is possible.

[Intestinal T cell lymphoma in coeliac disease. A case report]. / Lymphome t du grêle sur maladie coeliaque. A propos d'un cas.

Primary intestinal T-cell lymphomas account for about 5% of all primary gastrointestinal lymphomas and are mostly associated with coeliac disease. Intestinal lymphomas are usually discovered during the 4th to 5th 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.

[Kikuchi disease: an unusual clinico-pathologic presentation]. / La maladie de Kikuchi: présentation clinique inhabituelle et aspects morphologiques.

Histiocytic necrotizing lymphadenitis, also known as KIKUCHI disease is rare self-limited condition of young adults. Manifestations include enlargements of the cervical lymph nodes, sometimes with fever, and can be associated with other non-specific signs. The aetiologie of this affection is still unclear. This is a case report of a 27 year-old man who presented cervical and sus-clavicular lymphadenopathy diagnosed first as lymph nodes tuberculosis before the diagnostic of KIKUCHI disease was made.