Schwartz-Jampel syndrome (osteochondromuscular dystrophy)]

BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.     

Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF -308 gene polymorphism

Autoimmune thyroid diseases (AITDs), which include Hashimoto thyroiditis (HT), Graves' disease (GD) and primary idiopathic myxoedema (PIM), are recognized as multifactorial diseases. In this study, we have examined single and haplotypic genetic variation across the major histocompatibility complex (MHC) in a Tunisian isolate with a high prevalence of AITDs (62 patients: 32 with GD, 9 with HT and 21 with PIM). Genotyping was performed for HLA class I and II alleles as well as polymorphisms within tumor necrosis factor (TNF), lymphotoxin alpha (TLalpha) and heat shock protein (HSP70-02 and HSP70-hom) genes. Our results showed association of HLA-A2-B50-TNF 2 haplotype with AITDs (p = 0.045). Linkage analysis using Simwalk2 program has shown significant result with TNF -308 gene polymorphism (p = 0.03). The FBAT has given evidence for genetic association with TNF -308 and HLA-DR gene polymorphisms. TNF 2 allele was associated with GD (p = 0.0011), whereas TNF 1, HLA-DR11 and DR12 (p = 0.0039, p = 0.00089 and p = 0.0056, respectively) were rather implicated in HT pathogenesis. Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis (p < 10(-9)).     

Pneumoretroperitoneum,Bilateral Pneumothorax and Subcutaneous Emphysema Following Endoscopic Biliary Sphincterotomy

We report a case of pneumothorax, subcutaneous emphysema and pneumoretroperitoneum after an endoscopic sphincterotomy. A 40-yr-old woman presented with dyspnea immediately after she had undergone an endoscopic retrograde cholangiopancreatogram for a residual stone in common bile duct. On arrival to our hospital, she complained about severe dyspnea and on examination subcutaneous emphysema was discovered. A CT scan was conducted and showed a right-sided pneumothorax, a pneumoretroperitoneum in the peritoneal cavity. We recommended to the patient an immediate laparotomic exploration. We discovered a duodenal perforation in which we sutured it with accompanying pyloric exclusion, double truncular vagotomy and gastroenteroanastomosis. Endoscopic retrograde cholangiopancreatogram (ERCP) is a popular procedure for biliary and pancreatic diseases, but it can cause severe complications such as intestinal perforation. Besides perforations, air can spread through the abdominal cavity, retroperi-toneum, mediastinum, and the soft tissues of the neck, eventually causing pneumothorax. Early recognition and appropriate management is crucial for optimal results.     

Feminizing testicular syndrome with multiple hamartomas and bilateral paratesticular leiomyomas

INTRODUCTION: Complete androgen insensitivity syndrome or testicular feminization syndrome (TF) is the most common form of male pseudohermaphrodism, caused by a failure of androgen receptor binding. Patient with male genotype 46 XY, has a female morphotype with well developed external sexual organs. EXEGESIS: - We report the case of a 29 year-old girl with a TF syndrome discovered during the exploration of a primary amenorrhoea. Bilateral orchidectomy was performed. The testis were immature; they showed bilateral leiomyoma of the tunica albuginea and multiple hamartomas on the right side. CONCLUSION: Benign tumors are developped in 80% of cases of TF and they are generally hamartomatous nodules of testis. Association of paratesticular leiomyoma to synchronous hamartoma has never been described, its histogenesis is discussed.     

Unusual tumor of the stomach

Stomach melanomas are exceptional and often secondary to cutaneous tumors. Their symptomatology is not specific. We report the case of a 66-year-old woman, hospitalized with a three month history of epigastric pain and weight loss. Gastroscopy had revealed a polyp of the gastric mucosa. Histopathologic examination confirmed the diagnosis of a gastric infiltration by a melanoma. At exploration, there were lung, liver and bone metastasis and no cutaneous melanoma. The diagnosis of polymetastasis from a melanoma without primitive was kept. The patient died three months later.     

Cholangite tuberculeuse simulant une maladie de Caroli : difficultés diagnostiques

Abstract

The liver and the bile ducts represent an exceptional location of tuberculosis. The clinical symptomatology is not specific.We describe three aspects macronodular, micronodular and canalicular which are the rarest.

Purpose

Precise the diagnostic difficulties of this entity insisting on the clinical, biological and morphological signs.

Case report

We report the case of 70 year old man without medical history, admitted for a clinicobiological cholangitis syndrome evolving in a context of impaired general condition. Acute cholecystitis was documented by ultrasound with a moderate dilatationof the common hepatic duct. The bili-MRI showed a dilation of the left intrahepatic bile ducts suggestive of Caroli’s disease. A bi-segmentectomy were performed. Histological examination finds a hepatic tuberculosis and infirm the diagnosis of Caroli’s disease.

Conclusion

Tuberculous cholangitis is rare and poses a diagnostic problem. It can simulate a Caroli disease leading to an unnecessary liver resection. Percutaneous liver biopsy can help to rectify the diagnosis for TBC.     

Association study of human leukocyte antigen-DRB1 alleles with rheumatoid arthritis in south Tunisian patients

The aim of this study is to explore relationship between HLA-DRB1 alleles and the susceptibility and clinical features of rheumatoid arthritis (RA) in the south Tunisian population. We studied 142 RA patients and 123 controls matched for age, sex, and ethnicity. HLA-DRB1 genotyping and HLA-DRB1*04 subtypes were performed using polymerase chain reaction/sequence-specific primers. Association was assessed based on the χ (2) test and odds ratio with 95% confidence interval. For multiple comparisons, p value was corrected (p (c)) with Bonferroni test. Two alleles, HLA-DRB1*04 (p=0.045, p(c)=NS) and HLA-DRB1*10 (p=0.021, p(c)=NS), were found to have increased frequencies in RA patients compared to controls. In contrast HLA-DRB1*08 allele was found to have a decreased frequency in patients compared to controls (p=0.044, p(c)=NS). Molecular subtyping of the most prevalent allele (DRB1*04) revealed increased frequencies of HLA-DRB1*04:05 in patients compared to controls (p=0.013, p(c)=NS) whereas HLA-DRB1*04:02 showed a protective effect (p=0.005, p(c)=0.04). Moreover, stratified analyses indicated statistically significant associations between HLA-DRB1*04 allele and anti-cyclic peptides antibodies positivity (ACPA(+)) and rheumatoid factor positivity (RF(+); p(c)=0.03, for both subgroups), HLA-DRBI*10 and ACPA(+) and the presence of another autoimmune disease (p(c)=0.05 and p(c)=0.007, respectively), and HLA-DRB1*04:05 and RF(+) and erosion (p(c)=0.005 and p(c)=0.049; respectively). A significant decrease in the frequency of the DRB1*04:02 allele was observed in patients with ACPA(+) and RF(+) subgroups (p(c)=0.04 and p(c)=0.02, respectively). Our results showed that there was a trend of positive association of HLA-DRB1*04 and HLA-DRB1*10 with RA as such and significant associations with the disease severity in the south Tunisian population.