Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-ß) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. CASE PRESENTATION: A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1. CONCLUSION: LDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Dural ectasia in Marfan syndrome: a case control study.

BACKGROUND AND PURPOSE: Dural ectasia (DE) is one of the major criteria of Marfan syndrome (MFS). Our aim was to establish the prevalence of DE in an adult population fulfilling the Ghent criteria for MFS and to assess definitions of DE. MATERIALS AND METHODS: One hundred five adults with suspected MFS were included. MR imaging at 1.5T was performed unless contraindicated; then CT was obtained. Lumbosacral anteroposterior vertebral body diameters (VBD) and dural sac diameters (DSD) were measured. Dural sac ratios (DSR = DSD/VBD) at levels L3 through S1 were calculated. Anterior meningoceles, herniations of nerve root sleeves, and scalloping were characterized. One hundred one sex- and age-matched patients were included as controls. RESULTS: We identified 3 patient groups: 1) fulfilling Ghent criteria independent of DE (n = 73), 2); fulfilling Ghent criteria dependent on DE (n = 14), and 3); and suspected MFS, not fulfilling Ghent criteria (n = 18). DE was found in 86% of group 1. At levels L4-S1, mean DSRs were significantly higher in group 1 than in group 3 and controls (P < .001). Herniations of the nerve root sleeves were present in 73% in group 1 versus 1% in controls. Anterior meningoceles were found in 37% and 14% in groups 1 and 2, respectively, but not in group 3 or controls. CONCLUSIONS: The diagnosis of DE on MR imaging or CT should be based on the presence of at least 1 of the following criteria: anterior meningoceles or nerve root sleeve herniation, DSD at S1 or below larger than DSD at L4, and DSR at S1 >0.59.

The changed pattern of bone and joint tuberculosis in Norway.

The reduced incidence of bone and joint tuberculosis in Western countries and the change in the age groups afflicted are well known facts. In addition, there are other less conspicuous changes: multiple lesions and involvement of the spine and sacro-iliac joints are rarer than before, while trochanteric involvement is becoming more frequent. In spinal cases the lesion is now more often localized to the dorsal region. All these changes may be due to the change in age distribution of the patients.

The recurrence of pain following operation for herniated lumbar disc: fresh herniation or extradural scar tissue?

The clinical findings, the appearance of the myelogram and the findings at re-operation are described in 34 patients who had persistent or recurrent pain following operation for removal of a herniated lumbar disc. An attempt was made to distinguish before re-operation whether the residue symptoms were due to recurrence of, or a fresh disc herniation, or to extradural scarring. Persistence of pain after the initial operation or the time interval before pain re-appeared did not help to distinguish the causative pathology. A recurrent disc herniation was found if a different disc was involved, but was else best distinguished by myelographic demonstration of a short indentation in the contrast column at the level of a disc or a short root sleeve with a thickened associated nerve root. An absence of indentation in the column suggested extradural scarring. At re-operation disc herniation and extradural scarring without herniation were found in approximately equal numbers of patients.

The piriformis muscle syndrome. Sciatic nerve entrapment treated with section of the piriformis muscle.

The piriformis muscle syndrome, a term applied to an abnormal condition of the piriformis muscle, is characterized by symptoms and signs due to sciatic nerve entrapment at the greater sciatic notch. Two patients with this syndrome, successfully treated with section of the piriformis muscle, are reported. The piriformis muscle syndrome should be suspected as part of the differential diagnosis in cases of low back and hip or thigh pain.

Chronic recurrent multifocal osteomyelitis. A new clinical-radiological syndrome.

Chronic recurrent multifocal osteomyelitis is characterized clinically and radiologically by multiple, sometimes symmetrical, infectious bone lesions and a prolonged course over several years with relapses and new lesions. The distribution of the osteolytic bone lesions follows the pattern of acute haematogenous osteomyelitis in infancy and childhood. The aetiology and pathogenesis of this disease is unclear. A 5-year-old girl with this disease and 19 similar cases from the literature are reviewed.

Plasma total homocysteine levels and prognosis in patients with previous premature myocardial infarction: a 10-year follow-up study.

OBJECTIVES: To explore plasma total homocysteine (tHcy) as a predictor of long-term prognosis after premature myocardial infarction (MI). DESIGN: Prospective cohort study. SETTINGS: Akershus University Hospital. SUBJECTS: A total of 247 patients (193 men and 54 women) in stable clinical phase after premature MI (males: first MI at age < or =55; females < or =60). MAIN OUTCOME MEASURES: The primary end-point was total mortality and the secondary end-point was cardiac death. The third end-point was major cardiac events: a combination of cardiac death, MI and cardiac arrest. RESULTS: After 10 years, 44 patients had died, 36 from cardiac causes. Major cardiac event occurred in 70 patients. The relative risk for death of all causes increased 1.43 (95% CI, 1.08-1.88) per tHcy quartile (P for trend = 0.01), and was only modestly reduced after adjustment for age, ejection fraction, total cholesterol, C-reactive protein, fibrinogen, smoking and hypertension to 1.37 (95% CI, 1.04-1.80) (P for trend = 0.03). Similar results were observed when cardiac death was used as the end-point, but we observed no association between tHcy and the end-point major cardiac event. CONCLUSIONS: Total homocysteine was an independent predictor of total and cardiac mortality in stable patients following premature MI. tHcy had no effect on major cardiac event in contrast to most other risk factors in this study. Thus, the mechanism(s) underlying the effects of homocysteine on coronary heart disease may differ from other risk factors.