A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease. We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum. Both patients were diagnosed as having FOP. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients. This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.     

Acute Burkholderia cenocepacia pyomyositis in a patient with cystic fibrosis

IntroductionExtra-pulmonary complications of Burkholderia cepacia complex (Bcc) infection in patients with cystic fibrosis are unusual. To the best of the authors' knowledge no case of pyomyositis secondary to Bcc infection has been reported previously.Case presentationWe report a case of pyomyositis of the forearm caused by Bcc infection in a patient with CF. We also briefly discuss the management of pyomyositis.ConclusionPyomyositis is a potential extra-pulmonary complication of Bcc infection in patients with CF. A high index of clinical suspicion is required to make a prompt diagnosis. Final diagnosis may need MRI. An early diagnosis, aggressive medical therapy, multidisciplinary care and timely surgical intervention are all essential for proper management of this condition.     

Magnetic resonance imaging of myositis ossificans: analysis of seven cases

Myositis ossificans typically presents as soft tissue swelling with progressive ossification on radiographs. Since magnetic resonance imaging (MRI) is commonly used to evaluate soft tissue masses, we analyzed eight MR examinations in seven patients with myositis ossificans to determine if typical patterns were present. One acute lesion had homogeneous intermediate signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Two subacute lesions had low signal intensity margins with slightly increased signal intensity centers on T1-weighted images and very high signal intensity on T2-weighted images. Five chronic lesions had two different patterns. All five were well-defined with low signal intensity borders. Three had signal intensity patterns characteristic of fat on T1-weighted and T2-weighted images. The other two lesions had intermediate signal intensity on T1-weighted images and slightly increased signal intensity on T2-weighted images.We conclude that typical MR appearances of myositis ossificans do exist. A low signal intensity rim is a common finding. However, these patterns are not unique to myositis ossificans and resemble those that have been reported in other lesions. It is important to be aware of the spectrum of MR findings of myositis ossificans when considering the differential diagnosis of a soft tissue mass.     

Spinal arachnoid calcifications

Arachnoid calcifications have been imaged on axial-CT and MRI. These often clinically asymptomatic deposits have been attributed to trauma, myelography (particularly with the use of oil-based contrast), subarachnoid hemorrhage, and spinal anesthesia. This report describes calcified arachnoid plaques in an 86-year-old male cadaver located in the dorsal thoracic level. A laminectomy from C4 to the lumbo-sacral junction was performed and the dura mater was transected and pinned aside. Three plaques between T2-T3, 3 at T7, 2 at T9 were noted. Plaques were 1.0 mm in thickness and ranged from 0.5 cm to 1.0 cm in diameter. The spinal cord or nerve roots were not displaced. The plaques stained positively with Von Kossa and Alizarin Red S staining, confirming that the deposits included calcium phosphate and calcium. Arachnoid calcifications are an incidental finding in cadavers and typically do not compress the spinal cord or nerve roots. However such plaques may be precursors to spinal arachnoid ossificans, a more serious condition that may cause spinal cord or nerve root compression.     

The T Cell Receptor (TCR) in HLA-B27-Restricted T Cell Responses - an Introduction

Summary D-penicillamine, an agent still used in the treatment of rheumatoïd arthritis (RA) may produce inflammatory myopathy or myositis. Some reported cases are documented with muscle biopsy. We report a 34-year old female, receiving the drug for more than 4 years, who consulted us with recently developed proximal muscle pain and weakness. EMG-findings were typical for inflammatory muscle disease; muscle enzymes remained normal. D-penicillamine was stopped and she was started on prednisolone with rapid improvement. The EMG-findings, with follow-up within three months, proved to be a good diagnostic tool, in the absence of laboratory muscle enzymes abnormalities.Correspondence to: Algemeen Ziekenhuis Middelheim Dienst Fysische Geneeskunde en Reumatologie Lindendreef 1 2020 Antwerpen, BELGIUM