Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia.

We report on a female with oculo-auriculo-vertebral spectrum, low height, and on X-ray lambdoid suture synostosis, cerebral cyst/mild holoprosencephalia and cholesteatoma, and multiple abnormalities of bones of chondral origin. On the right side, maxillary, mandibular bones, external auditory canal, middle ear were hypoplastic as well as semicircular canal, cranial base, bones vestibule. On the left side, coclea, timpanic cavity, mastoid antrum were hypoplastic, while stapes was misshapen. Limbs bones were slender with thin metaphyses and some carpal bones were absent. Hand second phalanx was hypoplastic and fifth finger presented clynodactily. Lambdoid synostosis expressed membranous ossification abnormality. We hypothesize that during the blastogenesis a mutation of a factor responsible for abnormal generalized endochondral and connectival ossification (possibly fibroblast growth factor receptor) occurs

Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum

The authors discuss the association of papilledema with Chiari I malformation (CMI) and syringomyelia on the basis of a clinical case studied by radiology, immunology and biochemistry methods. In the presence of normal haematology, blood immunology and biochemistry, clinical signs of headache and papilledema associated to hemifacial asymmetry, blind neck fistulas, malformed ears and spinal abnormalities (symptoms of oculo-auricolo- vertebral spectrum - OAVS), were observed. Magnetic resonance images and computed tomography demonstrated the occurrence of lowered cerebellar tonsils, but with values lower than those typical of the CMI syndrome and syringomyelia. The authors concluded for a minor form (benign ectopia) in the CMI syndrome, associated to papilledema and syringomyelia, and hypothesize an unique pathogenetic mechanism for this complex, connected to neural crest cell development and to OAVS, as extension of this spectrum. The authors underline the relevance of the facial/neck lateral signs for the diagnosis of OAVS associated to brain stem pathology and CMI

Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

The authors discuss about the relationships between oculoauriculo- vertebral spectrum (OAVS), a malformative condition affecting eyes, ears and vertebral structures mainly derived from neural crests, and autosomal dominant progressive external ophthalmoplegia (adPEO) – an electron transport chain disorder characterized by palpebral ptosis and muscular symptoms – on the basis of laboratory data and clinical signs in a case belonging to a family in which symptoms of both diseases occur. Hemifacial microsomia and ears abnormalities were the main neural crest cells (NCC) derived signs for OAVS diagnosis. Palpebral ptosis and the associated hyperlactacidemia with high Lactate to Pyruvate ratio were main signs for the suspicion of adPEO, but the diagnosis was proposed by clinical, biochemical, electrophysiological and genetic methods because the biopsy not always is diagnostic, as in our case. The association of two groups of symptoms (malformed, NCCrelated, and myopatic-electron transport related) in the same subject as observed in our case and partially in the family, may be ascribed to nuclear abnormalities and mitochondrial electron transport disorder, respectively, as well as to a possible common etiopathogenetic mechanism. In some cases of OAVS, the malformations may be consequent to oxidative phosphorilation disease (OXPHOS) derangement, as previously demonstrated; the extensive determination of lactacidemia may be important to address the research on OAVS patients in the mitochondrial/OXPHOS genetic domain, with advantage in the knowledge of OAVS pathogenesis

Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia

We report on a female with oculo-auriculo-vertebral spectrum, low height, and on X-ray lambdoid suture synostosis, cerebral cyst/mild holoprosencephalia and cholesteatoma, and multiple abnormalities of bones of chondral origin. On the right side, maxillary, mandibular bones, external auditory canal, middle ear were hypoplastic as well as semicircular canal, cranial base, bones vestibule. On the left side, coclea, timpanic cavity, mastoid antrum were hypoplastic, while stapes was misshapen. Limbs bones were slender with thin metaphyses and some carpal bones were absent. Hand second phalanx was hypoplastic and fifth finger presented clynodactily. Lambdoid synostosis expressed membranous ossification abnormality. We hypothesize that during the blastogenesis a mutation of a factor responsible for abnormal generalized endochondral and connectival ossification (possibly fibroblast growth factor receptor) occurs

Vasculitis of the temporal artery in a young woman.

A 35-year-old Caucasian woman was referred for investi- gation of a 14-month history of a solitary, painless, itchy nodule in the left temporal region

Musculoskeletal manifestations of chronic anemias.

none6This article provides an overview of the current use of diagnostic imaging modalities in the evaluation of a heterogeneous group of disorders causing chronic anemias by impaired blood cell production (inherited bone marrow failure syndromes of childhood, aplastic anemia and myelodysplastic syndromes, β-thalassemia) or increased blood cell destruction (sickle cell disease). During the course of these disorders, various musculoskeletal abnormalities can be encountered, including marrow hyperplasia, reversion of yellow marrow to red marrow, growth disturbances, and, occasionally, extramedullary hematopoiesis. Diagnostic imaging may help the clinician to identify specific complications related to either the disease (e.g., bone infarction and acute osteomyelitis in sickle cell disease) or transfusion (e.g., iron overload due to increased hemolysis) and iron chelation (e.g., desferrioxamine-related dysplastic bone changes and deferiprone-related degenerative arthritis) treatments. In this field, magnetic resonance imaging plays a pivotal role because of its high tissue contrast that enables early assessment of bone marrow changes before they become apparent on plain films or computed tomography or metabolic changes occur on bone scintigraphy or positron emission tomography scan. Overall, familiarity with the range of radiological appearances in chronic anemias is important to diagnose complications and establish appropriate therapy.noneC. Martinoli;L. Bacigalupo;G. L. Forni;M. Balocco;G. Garlaschi;A. TagliaficoMartinoli, Carlo; L., Bacigalupo; G. L., Forni; M., Balocco; Garlaschi, Giacomo; Tagliafico, Albert

Multidetector computed tomography arthrography of the knee: Diagnostic accuracy and indications

Purpose: To evaluate the diagnostic accuracy and indications of arthrography with multidetector computed tomography (arthro-MDCT) of the knee, in patients with absolute or relative contraindications to MRI and in patients with periarticular metal implants using diagnostic arthroscopy as the gold standard. Materials and methods: After intra-articular injection of iodixanol and volumetric acquisition, 68 knees in patients of both sexes (30 females, 38 males, age range 32–60 years) were examined with a 16-detector-row CT scanner. The patients had arthralgia but no radiologically detected fractures. They could not be studied by MRI either because of absolute contraindications (subcutaneous electronic implants), surgical metal implants or claustrophobia. In 37 of 68 patients who had had previous knee surgery, the arthro-CT examination was preceded by an MRI on the same day. All examinations were interpreted by two experienced musculoskeletal radiologists. The findings were compared with arthroscopic findings carried out within 28 days of the CT study. Results: In non-operated patients the comparison between arthro-MDCT and arthroscopy showed sensitivity and specificity ranging between 86% and 100%. In the 37 operated knees, arthro-MDCT had an accuracy of 95% compared with 53% of the MRI. Inter-observer agreement was almost perfect (K= 0.97) in the evaluation of all types lesions, both on MDCT and MRI. When arthro-MDCT was compared with MRI in post-operative patients by a McNemar test, a significant difference (p < 0.05) was found between these two techniques. Conclusions: Arthro-MDCT of the knee is a safe technique that provides accurate diagnosis in identifying chondral, fibrocartilaginous and intra-articular ligamentous lesions, in patients that cannot be evaluated by MRI, and in patients after surgical

Ankylosis of the wrist bones in patients with rheumatoid arthritis: a study with extremity-dedicated MRI

Abstract Objective Ankylosis, or spontaneous bone fusion, of the small joints of the hand is a rare event in patients with rheumatoid arthritis (RA), being observed in 0.8% of them on conventional radiographs. It is associated with long-lasting and severe disease. In other settings, such as fracture healing, bone fusion is a reparative process. The aim of this paper is the study of the frequency of wrist ankylosis in patients with RA in comparison with other arthritides; to correlate ankylosis with disease activity. Methods A total of 94 patients affected by RA, 71 patients with different rheumatic conditions and 42 controls with no joint disease or with slight hand osteoarthritis were studied. DAS-28 CRP was calculated in patients with RA and psoriatic arthritis. MRI of the clinically most involved wrist was performed with a 0.2 T, extremity-dedicated MRI system. Results Of RA patients, 10/94 (10.6%) showed ankylosis in comparison with 2/113 (1.8%) controls (p=0.015). RA patients with ankylosis had longer disease duration (p=0.019) but similar disease activity. Conclusion MRI-defined bone ankylosis is frequent in RA. It is not limited to seronegative spondyloarthritides and may be part of the bone damage observed in RA