[Location and bowel subcellular liver of aluminium and administered indium oral rat]

Aluminium and indium are two elements used in industrial and medical fields. The purpose of this work was to study the subcellular localization of these elements, after their single and simultaneous oral administration to rats. 2h after the administration of these two elements, the small intestine and the liver were removed. Ultrastructural study showed the presence of electron dense deposits in the lysosomes of apical parts of duodenal enterocytes. When the minerals were administered simultaneously, deposits were observed in lysosomes of duodenal and jejunal enterocytes. No deposits were seen in the hepatic tissue of treated and control rats. Microanalysis identification showed that the deposits are constituted of aluminium, indium as well as phosphorus. Our results suggested that the elements are concentrated, in lysosomes, under the form of insoluble phosphate salts and it seemed that there are no specific lysosomes for the concentration of minerals since the two elements were concentrated in the same lysosome when they are administered simultaneously

[Alcardi's syndrome in a monozygotic twin girl]

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seem almost exclusively in female and it's often sporadic. The authors report a case of a premature female twins with typical Aicardi syndrome and her sister sibling was unaffected. At 4 months of age, the patient developed flexion in spasms and constipation. At that time she had microcephaly, abdominal ballonnement and generalized hypotonia. The electro- encephalography showed a characteristic hypsarrhythmia. The cranial ultrasonography and computed tomographic scan cerebral demonstrated agenesis of the corpus callous. Chest radiograph revealed multiple dorsal hemi vertebrae and scoliosis. The ophthalmologic examination showed chorioretinal lacunae. The karyotype was 46, XX. The patient also had peripheric hypothyroidism. The outcome under Vigabatrin and L-Thyroxin was characterized by a psychomotor retardation, a severe epilepsy, gastroesophageal reflux and recurrent pneumonia which caused the death at 2 years of age

[Recessive osteopetrosis: new mutation]

Autosomal Recessive osteopetrosis [ARO] is a severe bone disease, whose cellular defect is consisting in impaired osteoclast bone resorption, resulting in generalized osteosclerosis and obliteration of marrow. The molecular defect is heterogeneous. 50 per cent of ARO patients show an abnormality in the TCIR1 gene coding for the a3 subunit of vacuolar proton pump that plays a fundamemtal role in acidifying the osteoclast-bone interface. We report a new case with mutation in the TCIRG1 gene. The patient, a 4 months old male infant, presented with exophthalmia, macrocephaly, hepatosplenomegaly, a very severe bone sclerosis,anemia, thrombocytopenia, optic atrophy, with fatal outcome at second year. He has the mutation G11049T in homozygous state in the TCIRG1 gene, this mutation is in heterozygous state in the parents. Prenatal diagnosis was carried out in the mother by amniocentesis performed at 16 weeks of second gestation. The fetal DMA analysis showed that same mutation were present in heterozygous state. A healthy baby with no clinical, radiological or abnormalities was delivered

[Idiopathic pulmonary hemosiderosis rescue treatment with chloroquine: a case report]

Idiopathic pulmonary haemosiderosis is a rare but potentially lethal disorder. Long-term treatment with corticosteroids may improve the prognosis of this disease. Other immunosuppressive agents have been used in a small number of cases with encouraging results. We report a case of a twelve year old girl presenting a severe form of Idiopathic pulmonary haemosiderosis treated long-term high-dose steroids. That leeds to significant side effects. Chloroquine used after inefficiency of Azathioprine induced a subsequent remission

[Primary breast lymphoma: a case report]

Non-hodgkinian's lymphoma [NHL] represents 0.04 to 0.53% of all breast cancers. The clinical aspects and therapeutic models of the disease are a subject of debate. The purpose of this paper is to report the clinical, imaging [sonographic, mammographic and MRI] and pathological features of breast lymphoma, a rare but aggressive tumor, based on a case report review. We report a case of primary non-hodgkinian's lymphoma of the breast in one patient aged of 52 years. The patient weart to a systematic screening of breast cancer. Physical examen was normal. Mammography showed breast with transitional density, BIRADS type 2, micro-calcifications behin the .... but sometimes it had linear ...., neither not distorsion were identified. Ultrasonography did not show a tumor. The disease was revealed by breast MRI. The additional value of MRI in diagnosis is validated in our patient. In fact,when cancer is occult, size evaluation is difficult at standard imaging [7mm]. The diagnosis of non-hodgkinian's lymphoma was confirmed on histological examination of tumor biopsies. It was a B-cell non-Hodgkins-type lymphoma. The clinical features have been reviewed and the tumor have been evaluated both on a morphologic and an immunohistochemical basis. With chemotherapy, the course was favourable. The breast is an uncommon site of development of malignant lymphomas. Secondary disease is more common than the primitive form. Primary breast lymphoma is a difficult diagnosis because it is very rare. The diagnosis is mainly histological. Chemotherapy is the principal therapeutic mean. Treatment combines radiotherapy and chemotherapy. Prognosis is generally bad

Digestive parasites in Sfax [south of Tunisia]: a retrospective study

It's a retrospective study dealing with 30573 stool exams and 5844 scotch tape tests done in the parasitology-mycology laboratory of Sfax hospital [Tunisia] during 1997 to 2006. 26.6% of stool exams were positive. Third of parasitized patients were children. Protozoa were found in 96.5% Flagellae [54.3%] dominated by Dientamaeba fragilis [30.3%] and Giardia lamblia [17%]; Amoeba [41 .9%] with E histolytica/E dispar in 2.2% of cases. Cryptosporidium parvum was found in 17 cases; Microsporidium sp in 2 HIV positive and Isospora belli in one case. Helminths found in 3.5% were represented by Enterobius vermicularis [49%], Hymenolepis nana [31.4%], Strongyloides stercoralis [0.3%], Taenia saginata [0.3%] and Ankylostoma duodenale [one case]. The social movements occurring in Sfax characterized by rural migration and installation of young persons working in the market gardening could maintain the parasitism frequency

[Conservative treatment of breast cancer - study of 160 cases]

To study the impact of conservative treatment of the breast cancer on overall survival and recurrence free survival and trying to determine the prognostic factors. With a retrospective study over a period of six years [1995 to 2000], about 160 patients diagnosed and treated in Salah Azaiz Institute for early breast cancer. Only 9% of patients had a breast conserving therapy for breast cancer. The mean age was 47 years. The most frequent motive of consultation was breast nodule. The tumour was located in the upper outer quadrant in 43% of the cases. Local excision of the tumour with re excision of the tumour bed associated with lymph node dissection were performed in all patients. Invasive ductal carcinoma was found in 83% of the cases, grade I in 23% of the cases and grade III in 32% of the cases. On the other hand, 35.4% of the removed axillary lymph nodes were involved. Hormone receptors were positive in 61% of the tumours. The follow up of the patients was from 18 to 98 months with a mean period of 55 months. The 5 year overall survival was 92% with recurrence free survival of 94%. The recurrence rate was 3.7% within a period of 5 to 60 months. The 5 year metastases free survival was 82% with metastases rate of 10%. The most frequent localization was the bone [43.5%]. The mean delay of metastases went from 11 to 62 months. The univariate study of prognostic factors showed that histological tumour size had a significant impact on metastases free survival. The invariant study of the prognostic factors on overall survival showed that the tumour size < 3 cm, the absence of the lymph node involvement [P = 0.02], positive hormone receptors [P=0.02] represented good prognostic factors. The rate of conserving therapy remains low in our country, and this is because of the importance of the tumour size at the diagnosis, with survival rate and locoregional recurrence rates similar to the literature data. The augmentation of the number of the patients that can benefit with conserving therapy must imperatively pass through the development and the promotion of early diagnosis and screening by mammography

[Mixed mullerian tumors of uterus - about 25 cases]

The malignant mixed mullerian tumours [MMMT] or carcinosarcoma of the uterus are rare tumours, they represent 1,4% of all uterine neoplasia. They are characterized historically by double components carcinomatous and sarcomatous. We performed a retrospective study about 25 cases of carcinosarcoma of the endometrium, collected in Salah Azaiz Institute over a period of 30 years going from 1970 to 2000. The mean patient age was 60 years, and 68% of patients were menopaused. The metrorrhagia was revealing in 66% of cases. Clinically, an abdominopelvic mass was found in 12% of the cases. The pathological diagnosis was done in 12 endometrial biopsies and 10 biopsies of the tumour exteriorisated by the cervix. Surgery is the mainstay of the treatment. The prognosis remains dismal

[Cutaneous dirofilariasis: two Tunisian cases report]

Cutaneous dirofilariasis is a zoonosis which mainly occurs in dogs and cats. Human dirofilariasis is rare. At our knowledge, only five cases of human dirofilariasis were reported in Tunisia. We report here two new cases of cutaneous dirofilariasis arising in two 19 and 21 year-old patients. The first one was admitted for surgical excision of a paraombilical cutaneous nodule. The second patient presented with multiple erythematous and pruriginous papules. In both cases, the histological examination revealed the presence of a worm diagnosed as Dirofilaria repens. The evolution was favourable after surgical resection in the first case and spontaneously in the second case

[Hereditary osteo-onychodysplasia. a case report]

Hereditary osteo-onycho-renal dysplasia is a rare genetic disorder also known as nail patella syndrome. It is an autosomal dominant hereditary disease with complete penetration but variable expressivity. The basic manifestations include: iliaque horns, finger nail abnormalities, patella hypoplasia or aplasia and elbow deformities. Nephropathy accompanied by mild proteinuria is also thought to be a commun manifestation. We report the case of 7 years old boy and his family who show clinical features of NPS

Atypical Aicardi's syndrome on two sisters not twins

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age

[Desmoid tumor of shoulder-Girdle]

Desmoid tumour is an uncommon connective tissue tumour arising from musculoaponevrotic tissue characterized by spindle cell fibroblast and myofibroblast proliferation. Although considered as a benign lesion, it can be very aggressive locally, and has a high rate of local recurrences afer surgical excision. The cause is unknown and it most often encountered in young women. Abdominal localization is the most frequent site. Extra-abdominal desmoid tumors particularly located in the girdles or the most proximal part of the limbs. We report a case of a 31 year old woman with desmoid with tumour of the scapular region which was treated with wide excision, but in the following year the tumour reccured locally of the shoulder-girdle and infiltrated into the brachial plexus. Nevertheless, surgical treatment of recurrent tumors is difficult and often insufficient, compromising functional outcome. Radiotherapy has been advocated for better control tumor growth

[ malignant adrenocortical carcinoma of the child to a comment]

Malignant corticossurrenaloma is very rare in childhood. It occurs more often before the age of 5 years. Its pathogeny remains unknown but a genetic predisposition was suggested. The tumor is usually of secreting type and revealed by virilisation and/or Cushing syndrome, seldom by feminization and exceptionally by Conn syndrome. We report the case of a 7 years old girl who presented with a hetero-sexual precocious pseudo-puberty associated to a Cushing syndrome. The clinical examination found an abdominal mass. Hormonal investigation confirmed androgen and gluco-corticoid hypersecretion. Malignancy of the tumor was evoked by MRI. Evolution was marked by a tumoral rupture which required a laparotomy in emergency. The anatomo-pathological examination confirmed the diagnosis. In spite of a favorable immediate post operative evolution, the child died eight days later. Through this observation, we discuss the clinical, biological, therapeutic and evolutive aspects of this affection