A novel mutation in infant hypophophatasia: a case report

BACKGROUND: Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified. AIM: The authors describe a Tunisian case having a mutation that has not been described up to now. CASE: It is about an infant, in the antecedents of recurring disease of the lungs in child since the age of seven months, which presents clinical and radiological signs of rickets. The diagnosis of hypophosphatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study. The child is homozygous for a new mutation L282P in the ninth exon of the gene. The parents and two brother and sister are heterozygous for the same mutation.     

原纤维蛋白1基因新突变致新生儿马方综合征并文献复习

目的 探讨原纤维蛋白(FBN)1基因新发突变致新生儿马方综合征(MFS)的临床特征、基因检测结果和诊治方案.方法 选择2018年3月8日在陕西省人民医院新生儿科住院,并确诊为FBN1基因新突变致新生儿MFS的1例患儿为研究对象,确诊时年龄为生后10 h.同时,检索国内数据库中FBN1突变所致患儿发生MFS的相关文献,并...     

A variation of May-Thurner syndrome: a case report

A 48-year-old man admitted with the complaint of a swollen left leg. Abdominal computed tomography demonstrated a tortuous left common iliac artery and a collapsed left common iliac vein. Contrast left iliac venogram revealed complete occlusion of the left common iliac vein. Abdominal aortography showed a tortuous left common iliac artery, which was thought to be compressing the left common iliac vein.     

Mitochondrial 3243 BP mutation: a case report

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). Mutation in the mitochondrial gene at position 3243 was recently identified in several pedigrees of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for this mutation in a non-consanguineous family with MIDD from Southern Italy. The mitochondrial 3243 bp mutation of the tRNALEU (UUR) gene was identified in one subject with deafness and Type 1B diabetes mellitus and in his mother. The mother was affected by Type 2 diabetes mellitus, deafness and cardiomyopathy. Our study points out the variable phenotypic expression of this mitochondrial mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype.     

全外显子测序分析Noonan综合征RAF1基因新发突变

目的应用全外显子测序技术对疑似Noonan综合征(NS)的危重早产儿及其父母进行基因诊断,探讨基因型与临床表型之间的关系。方法收集患儿及其父母的外周血标本及临床资料,应用Agilent Sure Select Human All Exome V5试剂盒进行全基因组外显子捕获,Illumina 550测序仪进行双端高通量测序,Sanger测序验证家系成员以明确突变遗传方式。结果全外显子测序发现NS患儿RAF1基因杂合错义突变c. 770CT,p. S257L、Sanger测序验证家系成员为新发突变。结合患儿特殊面容、双侧心房及右室增大、中度肺动脉高压(PAH)等临床症状诊断为Noonan综合征。结论应用全外显子测序技术能够快速发现Noonan综合征基因突变,对重症新生儿病例的明确诊断及临床遗传咨询具有重要意义。     

Wilkie syndrome: report of a case

Wilkie syndrome is an unusual form of high gastrointestinal obstruction resulting from compression of the duodenum between the abdominal aorta and the superior mesenteric artery (SMA). The conditions that cause this syndrome can be classified into five categories: severe wasting diseases, severe injuries, diseases, deformity or trauma to the spine, dietary disorders and posoperative state. The symptoms include nausea, vomiting, distention postprandrial, epigastric pain and weight loss. Barium meal and arteriography were used as diagnostic tools, now CT-angiography is being used and shown higher diagnostic sensitivity. The diagnostic criteria are: dilated duodenum, compression of the duodenum by the SMA and aortomesenteric angle <20 degrees. Patients with acute syndrome often respond to conservative treatment (decompression, correction of dehydration and electrolyte imbalance and nutrition support). Most of the patients with chronic syndrome require surgical intervention. Duodenojejunostomy is the most effective surgical option, with a success rate of 90%.     

Thenar hammer syndrome: a case report

BACKGROUND: Raynaud's phenomenon occurs among automobile mechanics secondary to long-term use of vibrating hand-held tools. It can also occur from traumatic injury to the upper extremity. AIM: This report describes a case of single digit Raynaud's phenomenon in an automobile mechanic due to focal arterial impact trauma. CASE REPORT: A 38-year-old right-handed transmission mechanic complained of paraesthesia and blanching of the right index finger on exposure to cold and eventually developed a transient necrotic ulcer at the tip of the digit. He had a long history of occupational exposure to vibrating hand-held power tools. Evaluation for common causes of Raymond's phenomenon was negative. The diagnosis of hand-arm vibration syndrome (HAVS) was rejected because of the rapidity of progression and severity of the symptoms restricted only to the index finger without corresponding symptoms of the other digits of the right hand as would be expected. Angiography revealed an obstructive lesion of the distal right radial artery at the wrist and he was diagnosed with thenar hammer syndrome. This uncommon condition was due to focal injury of the distal radial artery caused by repeated slamming of transmission parts on a work table. CONCLUSIONS: Not all cases of Raynaud's phenomenon in workers using vibrating hand-held tools are due to HAVS. Alternative aetiologies should be considered especially if symptoms are asymmetrical and unilateral.     

Li-Fraumeni syndrome: a case report and discussion

Li-Fraumeni syndrome is a rare cause of breast cancer. It should be considered in cancer cases where a genetic link is suspected. It impacts dramatically on treatment and has major implications for the patient and their family.     

Cryptosporidiosis in the acquired immunodeficiency syndrome: A case report

A case of cryptosporidiosis in a male homosexual man with AIDS is reported.The clinical manifestations were anorexia, mild fever, abdominal pain and profuse watery diarrhea.The diagnosis was made in fecal smears by using a modified Ziehl-Neelsen method and a safranin-rnethylene blue staining technique.     

Kartagener's syndrome. A case report

A case of Kartagener's syndrome (situs inversus, sinusitis and bronchiectasis) is reported at the "Comandante Manuel Fajardo" Teaching Clinico-surgical Hospital, Havana City, in a patient aged 33 years, who presents the three elements of Kartagener's triad. The case was investigated in the Department of Medicine and Department of Radiology. The literature on this uncommon syndrome was reviewed and it was found that there are an open prevalence of this entity in children younger than 15 years, as well as severe respiratory complications in affected patients. Emphasis is made on the importance of early diagnosis and adequate treatment of affections of high respiratory passages, which allows an orientation to avoid future bronchiectasis and sinusopathies. Genetic aspects, as well as incidence of suffering variants, are mentioned. Emphasis is made on specific nursing procedures of this syndrome.     

A case report of Swyer-James syndrome

A 43-year-old man with Swyer-James syndrome (SJS) was reported. The left side of his chest radiograph and computed tomogram was hyperlucent with decreased vascular markings. Pulmonary angiogram and scintigram showed markedly decreased blood flow of the left lung. Statistical study of the patients with SJS in Japan was done.     

Solitary rectal ulcer syndrome in a patient with anorexia nervosa: A case report

This case report describes the clinical presentation, diagnosis, and management of a 26‐year‐old patient with anorexia nervosa (AN) diagnosed with Solitary Rectal Ulcer Syndrome (SRUS). To our knowledge, this is the first case report to document SRUS in AN, whose pathogenesis in this case seems to have been determined by the patient's malnourished and underweight state. Furthermore, SRUS symptoms appear to have interacted with the eating disorder psychopathology, increasing the need to exert control over eating. Cognitive behavioral strategies and procedures were accordingly used to address the eating disorder psychopathology and to promote complete weight restoration, which brought about a significant reduction in the size of the ulcer and the complete resolution of SRUS symptoms. © 2016 Wiley Periodicals, Inc.(Int J Eat Disord 2016; 49:731–735)     

Trans-catheter therapy of Lutembacher syndrome: a case report

Lutembacher syndrome refers to the rare combination of a congenital atrial septal defect and acquired mitral stenosis. Traditionally, Lutembacher syndrome has been corrected by surgical treatment. We describe two patients treated percutaneouly with a combined Inoue balloon valvuloplasty and septal defect closure using the Amplatzer septal occlusion device.     

Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing

Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated. The mutation is not present in the dbSNP, 1000 Genome, ExAC, and gnomAD databases. The discovery of this new mutation in the FGFR1 gene enriches the spectrum of FGFR1 mutations in patients with KS.

Abbreviations: FGFR1: fibroblast growth factor receptor 1; HH: hypogonadotropic hypogonadism; KS: Kallmann syndrome; MRI: magnetic resonance imaging; WES: whole–exome sequencing.     

Wolfram syndrome. A new case report

The WOLFRAM syndrome (SW) is a rare hereditary disorder described for the first time in 1938 as the coexistence of a diabetes mellitus and an optic atrophy to which join frequently a diabetes insipidus and a bilateral deafness. Several genetic studies are current to determine transmission mechanisms, physiopathology of the disorder to update a curative therapy. On the occasion of a new case report we remind the main characteristics of this syndrome. The SW is a rare neurodegenerative disorder characterized by the coexistence of diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Several other manifestations are frequently associated: neurological, urologic and endocrinous abnormalities as well as growth troubles. Only diabetes mellitus and optic atrophy are compulsory for the diagnosis. This Syndrome is transmitted to the autosomic recessive mode. Mitochondrial heredity is in the course of study. The systematic practice of a cerebral IRM during a SW allows finding several malformative abnormalities of which the most typical is the agenesis of the post-pituitary gland. The prognosis of the affection is essentially conditioned by the evoluting complications of the uropathy and the diabetes mellitus. The treatment is symptomatic. Genetic therapy is in.     

Congenital sick sinus syndrome in a healthy heart: case report

Isolated congenital sick sinusal syndrome on non harmed heart is a rare affection. Its association with an atrio-ventricular block is exceptional. The authors report a case of a 19 year-old patient, with an early history of bradycardia, hospitalised for effort intolerance. His electrocardiogram reveals a high degree sino-atrial block replaced by a junctional rhythm at 30/mn. During Treadmill test, the sinusal acceleration is satisfactory and an effort atrio-ventricular block was present. He later had a definitive stimulation under DDDR. This report shows that the sinusal node, in the same way as the atrio-ventricular node may be injured by congenital dysimmunitary process. The coexistence of these two conductive troubles worsen the prognosis and should lead more often to the practice of definitive stimulation by the only mode DDDR.     

A variant of Poland syndrome: report of case.

A variant case of Poland syndrome is reported, with the patient presenting major unilateral anomalies in the sternocostal head of the left pectoralis major muscle and a shorter left arm and hand. No pre-natal history of attempted abortion or using toxic or teratogenic drugs could be elicited. The variability of the upper extremity anomalies and the frequency of major ipsilateral defects of the skeletal and genite-urinary systems, the associated diseases, and the diagnosis and management of these patients are briefly discussed.