Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

OBJECTIVE: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort. METHODS: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. RESULTS: The average age of our patients was 17.2 years (11-31 years). They were all referred for short stature and pubertal delay, except for the fourth sister who presented spontaneous puberty with the integrity of the pituitary axis and the presence of an X ring chromosome. Karyotype analysis showed monosomy in 3 cases and a mosaic TS in the 3 remaining cases, including one patient with abnormal X chromosome structure. Somatotropic and corticotropic deficiencies were confirmed in 2 sporadic cases while the gonadotropic and thyrotropic axes were spared. In contrast; familial cases were consistently affected by the integrity of the corticotropic axis. MRI showed pituitary hypoplasia in all familial cases and pituitary stalk interruption syndrome in only one sporadic case. No correlation was found between the chromosome formula and the anterior pituitary involvement. CONCLUSION: Co-segregation of congenital Hypopituitarism with pituitary hypoplasia and X chromosome aberrations could imply a molecular anomaly of transcription factors responsible for the differentiation and development of pituitary cells such as PROP1, POUF1, Hesx1, Lhx3, Lhx4. The etiopathogenic link between X chromosome abnormalities and the occurrence of Hypopituitarism remains unclear; however, the progress of molecular biology may clarify the interrelation between transcription factors and sex chromosome segregation abnormalities.

Thromboembolic events in inflammatory bowel disease.

GOAL OF THE STUDY: Inflammatory bowel disease (IBD) is associated with an increased risk of thromboembolic events (TEE) during outbreaks, increasing morbidity and mortality. The aim of our study was to specify the prevalence of TEE in IBD patients and to determine their epidemiological, clinical and evolutionary characteristics. MATERIEL AND METHODS: This is a retrospective study collecting all patients with IBD, who had a thromboembolic complication confirmed by imagery, between January 2012 and December 2018. RESULTS: One hundred patients with IBD were diagnosed during the study period. A TEE occurred in 6 patients (5.9%). These patients had an average age of 41 years, divided into 4 women and 2 men. Five patients had Crohn's disease and one patient had ulcerative colitis. The IBD was active in all patients. Five patients were already hospitalized and under preventive heparin therapy. Patients had deep venous thrombosis of the lower limbs in 3 cases, associated with pulmonary embolism in 1 case, cerebral venous thrombosis in 2 cases and pulmonary embolism isolated in 1 case. Thrombophilia investigations were negative in all patients. Evolution under medical treatment was favorable in 4 patients and fatal in 2 patients. CONCLUSION: In our study, the prevalence of TEE in patients with IBD was 5.9%. Thrombosis occurred during the active phase of IBD in all cases.

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

Hereditary spastic paraplegias (HSP) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. We performed the first clinical, epidemiological and genetic study of HSP in Southern Tunisia. We investigated 88 patients belonging to 38 unrelated Tunisian HSP families. We could establish the minimal prevalence of HSP in the district of Sfax at 5.75/100,000. Thirty-one percent of the families had a pure HSP, whereas 69% had a complicated form. The mode of inheritance was almost exclusively compatible with an autosomal recessive trait (97%, 37/38). Taking into account previously published results and new data generated in this work, genetic studies revealed significant or putative linkage to known HSP loci in 13 families (34.2%) to either SPG11 (7/38, 18.4%), SPG15 (4/38, 10.5%) or to SPG4 and SPG5 in one family each. The linkage results could be validated through the identification of two recurrent truncating mutations (R2034X and M245VfsX246) in the SPG11 gene, three different mutations (Q493X, F683LfsX685 and the novel S2004T/r.?) in the SPG15 gene, the recurrent R499C mutation in the SPG4 gene as well as the new R112X mutation in the SPG5 gene. SPG11 and SPG15 are the major responsible HSP genes in Tunisia.

[Cardiac involvement in Steinert myotonic dystrophy]. / Les anomalies cardiaques au cours de la dystrophie myotonique de Steinert.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease with frequent cardiac involvement that may cause sudden death. This study was performed to determine the various cardiac manifestations in DM1, their frequency and the relevance of cardiac electrophysiological study in this disease. METHODS: Ten patients with DM1, five men and five women, mean age 44.3+/-7.8 years underwent neurological and cardiac assessments. RESULTS: The most frequent electrocardiographic findings were conduction abnormalities, essentially by intraventricular conduction defects (eight out of ten cases) such as bundle branch or fascicular blocks. Echocardiography showed alterations in systolic left ventricular function in two cases. Invasive electrophysiology testing showed sub-hisien block in three patients, requiring cardiac pacemaker implantation. These three patients had normal duration of PR interval and normal width of QRS complex. CONCLUSIONS: We recommend that all patients with DM1 should undergo cardiac investigation to detect subclinical cardiac involvement.

[Study of correlation between radiological aspect of pulmonary hydatid cyst and postoperative course]. / Étude de corrélation entre les aspects radiologiques des kystes hydatiques pulmonaires et les suites opératoires.

Pulmonary Hydatid Cyst (PHC) may represent a real therapeutic challenge. Surgery remains the treatment of choice and postoperative course may be complicated in some cases. Several factors can be involved like the cyst's size and location. We aimed to study the existence of correlation between the radiological aspect of the PHC and the postoperative course through a retrospective study including 267 patients. Different radiological aspect of PHC found on the X-ray and/or computed tomography of the chest were classified according to Zidi et al. CLASSIFICATION: Analytical study showed that there is minor chance to have complications with simple cyst (P<0.05 and OR<1), while type VI cyst were more likely to cause complications (P=0.007 and OR=2.6). Considering these results, more attention should be paid to type VI of PHC to prevent postoperative complications. A multicentric study will be more precise to study correlation between different characteristics of the PHC and postoperative course.

[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. / Paraplégie spastique familiale avec amyotrophie sévère des mains (syndrome de Silver?).

Familial spastic paraplegia (FSP) with severe muscular atrophy of hands and feet is exceptional. Autosomal dominant forms were initially described by Silver in 1966. We report two cases, from the same Tunisian family, presenting FSP with severe amyotrophy of the hands. A brother and his sister, aged respectively 37 and 36 years old, presented practically the same clinical picture. Their parents were cousins. The female patient was hospitalized. Both patients developed gait disorders around the age of three years. Muscular atrophy of the hands arose much later, around the age of 20 years. The neurological examination disclosed a spastic gait with distal amyotrophy, severe in the hands and moderate in the feet. Sensitivity was preserved and there was no fasciculation. The spinal cord and cerebral MRI was normal. Electromyography (EMG) showed a neurogenic pattern in the distal muscles. Stimulation of the median, ulnar and sciatica nerves was ineffective. The somatosensory evoked potentials (EP) were delayed (upper limb) or desynchronised (lower limb). The auditory and visual EP were normal. The cerebrospinal fluid contained 1 mononuclear cell/mm3 and 10 mg protein/100 ml. Abnormalities of the cranio-vertebral junction, Arnold-Chiari malformation, syringomyelia and familial juvenile amyotrophic lateral sclerosis (ALS) were excluded and the diagnosis of Silver's syndrome was evoked.

[Clinical spectrum of cobalamin deficiency in Tunisia]. / Le spectre clinique des déficits en cobalamines en Tunisie.

PURPOSE: the aim of this study was to determine the prevalence of cobalamin (vitamin B12) deficiency in different populations of patients with clinical manifestations associated or secondary to cobalamin or folates deficiency and to analyse the demographic, clinical, paraclinical investigations in cobalamin deficient patients in Tunisia. METHODS: it was a prospective (1999-2001) multicenter study of 604 patients divided into four groups. The first group is composed of 478 consecutive patients with anaemia and/or macrocytosis with megaloblastic haemopoiesis on bone marrow examination without myelodyslasic or malignancy signs. The second group is made up of 34 patients with unexplained neurological symptoms without the presence of anaemia. The third group was composed of 82 invidious with isolated psychiatric disorders and the 10 patients with Hashimoto thyroïditis constituted the last group. RESULTS: serum cobalamin level was low in 98 %, 23%, 14% of cases, respectively, in the first three groups. Only one case of patients with Hashimoto thyroiditis has serum cobalamin deficiency. Pernicious anaemia (Biermer's disease) was established by dual isotope schilling examination in 103 patients among a sample of 120 serum cobalamin deficient patients (86%). The median age at presentation was 45.5 years. Severe chronic atrophic gastritis was diagnosed in 97.5% of patients with Biermer's disease. Serum antibodies against intrinsic factor and gastric parietal cells were detected in (42.5%) and (60.6%) patients, respectively; (25.5%) patients had the both types of antibodies. 23.4% patients were positive for antithyroid antibodies. Anti-nuclear antibodies were detected in 3% patients. CONCLUSION: an interesting finding of our study was the high frequency of cobalamin deficiency in Tunisia, particularly in relative young patients. Our patients had classic features of florid cobalamin deficiency (severe haematological manifestations and neuro-psychiatric disorders). The main underlying causes of such deficiencies were Biermer's disease. Subtle clinical manifestations should be recognized and investigated even in young patients at risk.

[Surgical and endoluminal management of the inflammatory aortitis: A Tunisian center experience]. / Traitement chirurgical et endovasculaire des atteintes aortiques inflammatoires : expérience d'un centre tunisien.

Non-infectious aortitis is usually due to giant-cell arteritis, Takayasu disease or Behçet disease. The main aortic lesions are stenoses, occlusions and aneurysms in the Takayasu disease and aneurysms in the Behçet disease and giant-cell arteritis. Treatment is based on corticosteroid therapy and surgery. Endoluminal management is now the rule. We report a retrospective descriptive study of 10 patients who underwent surgical or endoluminal management of inflammatory lesions of the aorta between January 2000 and December 2015. There were 4 cases of Takayasu disease and 6 cases of Behçet disease. The aortic lesions were aneurysmal in all of the patients with Behçet disease. In the patients with Takayasu disease, aortic occlusions predominated, associated with other arterial lesions. Four patients with Behçet disease were managed surgically, and 2 patients underwent endovascular repair. All of the patients with Takayasu disease underwent surgery. Two patients died in the postoperative period, and two patients died during long-term follow-up. Systematic screening, as well as regular monitoring of the entire aorta during the follow-up, is necessary due to the frequency of aortic aneurysms.

[Management of isolated iliac aneurysms: A Tunisian center experience]. / Traitement des anévrismes iliaques isolés : expérience d'un centre tunisien.

Isolated aneurysms of the iliac arteries are rare. The diagnoses of these aneurysms become easier with non-invasive radiologic investigations. The development of endovascular treatment is a recent alternative to surgical treatment. We report our experience in the management of 8 cases of isolated iliac aneurysms in the department of cardiovascular and thoracic surgery of the Habib Bourguiba Hospital of Sfax.

[Post-traumatic carotido-jugular fistula: Case report and review of the literature]. / Fistule carotido-jugulaire post-traumatique : à propos d'un cas opéré.

The neck, being not protected by skeleton, is vulnerable to external trauma and injury which can involve blood vessels, muscles, nerves, and trachea. Carotid injuries can be potentially life-threatening by hemorrhage and stroke. We present a case of a 26-year-old manual worker who presented a neck injury caused by a metallic projectile. The injury involved the right common carotid artery with an internal jugular vein fistula, and tracheal damage. The patient was managed with surgical repair of the tracheal lesion, reconstruction of the carotid section using a PTFE graft bypass, and ligation of the internal jugular vein. In the immediate postoperative period, the patient presented with no neurological deficits, but he did develop a pulmonary infection that resolved with antibiotic therapy. The follow-up is now 3months. The patient is doing well without any neurological disorder.

[Anastomotic false aneurysms after under-diaphragmatic bypasses: about 25 cases]. / Les faux anévrismes anastomotiques sur pontages sous-diaphragmatiques: a propos de 25 cas.

The purpose of our study is to determine the causes and the management of anastomotic aneurysms. We report the cases of 25 patients with a mean age of 64 years at the time of initial surgical revascularisation. The mean interval between the first operation and the occurrence of anastomotic aneurysm is 5 years (range 2 months-11 years). The treatment consists on the interposition of a graft in 8 patients, anastomotic angioplasty in 9 patients and the reconstruction of the anastomosis in 8 patients. Hospital mortality was 20%. Late death occurs 3 patients and the long-term morbidity was evaluated at 22%. A recurrence of anastomotic false aneurysm occurred in 4 patients (16%) (Range 7 months-1 year). In conclusion anastomotic false aneurysm is one of the major complications of vascular reconstruction; careful follow-up can detect the rare instances of anastomotic aneurysm and reoperation can be accomplished with a low-rate of adverse outcome.

[Popliteal artery pseudoaneurysm caused by femur exostosis: A pediatric case]. / Faux anévrisme de l'artère poplitée secondaire à une exostose fémorale chez un enfant : à propos d'un cas opéré.

Exostoses, or osteochondromas are benign bone tumors that have developed on the bone surface. These benign tumors can be asymptomatic or lead to complications, for instance arterial pseudoaneurysm. We report a case of a pseudoaneurysm of the popliteal artery treated surgically in a 17-year-old girl with a solitary exostosis of the right femur. Surgery was closure of the pseudoaneurysm and a bypass using a venous graft.

Unusual association of turner syndrome and hypopituitarism in a Tunisian family.

PURPOSE OF THE STUDY: Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them. PATIENTS AND METHODS: Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. RESULTS: Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases. CONCLUSION: Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members.

Popliteal pseudoaneurysm and arteriovenous fistula after acupuncture.

Most popliteal arteriovenous fistula and pseudoaneurysm formation are related to trauma. Few cases have previously been reported after acupuncture therapy. Such events are typically observed when the procedure is performed by non-medical acupuncturist. They may present with acute ischemia, recent claudication, distal emboli, or less commonly rupture. Duplex ultrasound should be considered as the 1st method of investigation. Computed tomography scanning is particularly accurate in making the diagnosis. Treatment strategies consist of surgery or endovascular management. The most commonly performed surgical technique for popliteal pseudoaneurysm repair is resection with bypass grafting, whereas popliteal arteriovenous fistula are usually treated surgically with ligation and primary repair. Endovascular procedure using a stent-graft is thought to be a reasonable option for treating popliteal false aneurysm or even arteriovenous fistula. We will describe two cases of an arteriovenous fistula and pseudoaneurysm of the popliteal artery that developed after acupuncture needling in the region of the popliteal artery.

[Middle aortic coarctation: a rare vascular disorder]. / La coarctation de l'aorte thoracique descendante: mid-aortic syndrome. À propos de trois cas.

OBJECTIVE: Coarctation of the descending thoracic aorta is uncommon, with controversial etiology. Usually, severe hypertension is the main symptom; lower extremity claudication is less often found. Surgical management remains the standard for long coarctation and provides good results. METHODS: We report three cases of coarctation of the descending aorta operated at our department of cardiovascular surgery of Hospital La Rabta between January 2012 and December 2013. RESULTS: The median age was 19 years and the median follow-up was 16 months. Hypertension was the most common clinical manifestation. The diagnosis was made by computed tomography angiography. Two cases were treated by an aorto-aortic bypass and one by subclavian-descending aorta bypass. Recovery was excellent, with a decrease in antihypertensive medications (four to two) and restoration of all distal pulses. CONCLUSIONS: Middle aortic coarctation is a rare entity. Etiologies include congenital, acquired, inflammatory and infectious causes. The condition is considered a life-threatening emergency as a result of the complications associated with severe hypertension. Depending on technical considerations, open surgical bypass remains the standard repair for mid-aortic syndrome.

[Transposition of the external jugular vein onto the subclavian vein in the treatment of symptomatic stenosis of the right subclavian vein]. / Bascule de la veine jugulaire externe sur la veine sous-clavière pour le traitement d'une sténose symptomatique de la veine sous-clavière droite.

Subclavian vein stenosis is a classical complication of longterm venous catheterization in hemodialysis. We report the case of a 74 years-old woman, operated for multiple arteriovenous fistulae, admitted to hospital with upper-limb oedema. Venous angiography demonstrated subclavian stenosis. Surgical treatment was performed by transposition of the external jugular vein onto the subclavian vein with a good result.

Analysis of heat shock protein polymorphisms in a large family with autoimmune thyroid diseases.

Graves disease and Hashimoto's thyroiditis are autoimmune thyroid diseases (AITD) in which the genetic contribution is complex. The purpose of this work was to analyze the influence of hsp70 gene polymorphisms on the susceptibility to AITD. The hsp 70-2 and hsp 70-hom polymorphism was analyzed, by PCR-RFLP using PstI and NcoI enzymes, respectively, in 40 patients affected with AITD and 38 related healthy individuals belonging to a large consanguineous family named Akr. The transmission disequilibrium test (TDT) was applied on nuclear families, deduced from the Akr pedigree, with at least one heterozygous parent for each studied polymorphism. The corresponding x2 values for hsp 70-2 and hsp 70-hom were, respectively, of 0.52, p > 0.05 and 2.77, p > 0.05. Our data indicated lack of association between these hsp polymorphisms and AITD in this large family.

[Aortic stent migration: a rare complication after endovascular repair]. / Migration d'endoprothèse aortique : une complication rare après traitement endovasculaire.

Migration of an aortic stent is one of the most serious complications that can occur during follow-up after endovascular repair of an abdominal aortic aneurysm. We report the case of a 75-year-old man who underwent endovascular treatment for an infra-renal aortic aneurysm using an aorto-mono-iliac stent associated to a femoro-femoral bypass. The angiography performed at the end of procedure showed complete exclusion of the aneurysm. The postoperative course was uneventful. CT scans at 1, 6 and 12 months were normal. The CT scan at the 18th month showed a proximal migration of the stent, which was complicated by a type 1 endoleak and a stent disjunction with a type 3 endoleak. Revision surgery was indicated but the patient died from aneurismal rupture pending treatment. The migration of an aortic stent is a rare but serious complication of endovascular aneurysmal repair. Prevention requires a precise anatomical selection and adequate deployment of the stent graft.