Synovial haemangioma of the knee: a frequently misdiagnosed lesion

Objective The objective of this study was to assess the contribution of magnetic resonance (MR) imaging in the diagnosis and surgical planning of five cases of synovial haemangioma of the knee.Patients and Methods The clinical, radiological and arthroscopic features of five pathologically proven synovial haemangiomas of the knee were retrospectively reviewed.Results A diagnostic delay, on average of 8 years, had occurred in four of the cases. Plain films were unremarkable, except for one case with arthropathy mimicking haemophilia, Arteriography, performed in three patients, was normal in one. CT, performed in three patients, showed the lesion, but the extent of the latter was better demonstrated with MR imaging. Synovial haemangiomas had a high signal intensity on T2-weighted images, without any extensive mass effect. Fibrofatty septa within the lesion were observed in three cases and muscular and/or fatty invasion in two. Arthroscopy allowed diagnosis of the lesion in two cases, but showed only non-specific synovitis in another two.Conclusion This study emphasizes the valuable contribution of MR imaging in the diagnosis and surgical planning of synovial haemangiomas.     

Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases

The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2 %) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48–0.55 %).     

Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley-Liss, Inc.     

Neuroradiology and clinical aspects of Usher syndrome

We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US 1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.     

Genetics of congenital hyperinsulinism

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to clarify the molecular etiology of this disease in about 50% of cases. Mutations in five different genes have been identified in patients with this clinical syndrome. Most cases are caused by mutations in the genes ABCC8 and KCNJ11 coding for either of the two subunits of the beta-cell KATP channel (SUR1 and Kir6.2). Recessive mutations of the beta-cell K(ATP) channel genes cause diffuse HI, whereas loss of heterozygosity together with inheritance of a paternal mutation causes focal adenomatous HI. In other cases, CHI is caused by mutations in genes coding for the beta-cell enzymes glucokinase (GK), glutamate dehydrogenase (GDH), and SCHAD. However, for as many as 50% of the cases, no genetic etiology has yet been determined. The study of the genetics of this disease has provided important new information regarding beta-cell physiology.     

Infected infradiaphragmatic retroperitoneal extralobar pulmonary sequestration: a case report

Infradiaphragmatic extralobar pulmonary sequestration is an extremely rare congenital malformation. It is more frequently diagnosed in the antenatal period due to routine ultrasonic examination of the fetus or in the first 6 months of life, though on rare occasions it is discovered incidentally in adults. A 32-yr-old man presenting with epigastric discomfort and fever was referred. Computed tomographic scanning showed that a 16-cm, multiseptated, dumbbell-shaped, huge cystic tumor was located beneath the diaphragm. On the next day, 850 mL of thick yellowish pus was drained by sonography-guided fine needle aspiration for the purpose of infection control and diagnosis, but no microscopic organisms were found in repeated culture studies. Surgical removal of the cyst was performed through thoracoabdominal incision and most of these pathologic lesions were removed but we could not find the feeding arteries or any fistulous tract to surrounding structures. Histopathologic study revealed that it was extralobar pulmonary sequestration and culture study showed that many WBC and necrotic materials were found but there were no microorganisms in the cystic contents. We report the first case of an infected infradiaphragmatic retroperitoneal extralobar sequestration which was administered a staged management and achieved an excellent clinical course.     

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation, and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene −/− mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome. Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome. Received: March 4, 2002 / Accepted: July 7, 2002     

Ellis‐van Creveld syndrome in a patient from Tanzania

We report an African infant with Ellis‐van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub‐Saharan Africa.     

Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis

We report on the expression of growth associated protein (GAP)43 and neural cell adhesion molecule (NCAM) in congenital fibre type disproportion (CFTD) with myopathological additional signs of interstitial myositis. We assume that sarcolemmal GAP43 in developmental disordered myocytes plays a role in maintenance of growth morphology. In muscular dystrophy light microscopical evaluation reveals no GAP43 immunoreactivity in regenerating fibres. The expression of GAP43 seems to be a characteristic feature of CFTD. The expression of NCAM, particularly in the sarcolemma of small muscle fibres of CFTD, indicates a functional state of permanent partial denervation. Whether the steroid-responsive interstitial myositis is pathogenetically related to CFTD or a coincidental inflammation is not known. Because of the clinical and myopathological data the differential diagnosis of Emery-Dreifuss muscular dystrophy is considered.     

子宫畸形患者HOXA13基因同源结构域分析

目的探讨中国子宫畸形患者中HOXA13基因同源结构域是否存在突变及其相关性分析。方法国外文献报道手-足-生殖器综合征（hand-foot-genital syndrome,HFGS）患者中发现HOXA13基因2号外显子同源结构域存在点突变,而此综合征的女性患者部分症状表现为子宫畸形,因此对58例中国子宫畸形患者和54例正常对照者进行HOXA13基因同源结构域检测,PCR扩增目的片断后自动化测序分析基因2号外显子同源结构域区域。结果HOXA13基因同源结构域直接自动化测序分析结果显示,在患者和对照者中均没有突变发生。结论中国妇女子宫畸形的发生可能与HOXA13基因同源结构域突变无关。