Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years. Most patients experienced respiratory problems in the first years of their life, three died, one experienced renal complications, and one had hepatic problems. With age, the thoracic malformation tends to become less pronounced and the respiratory problems decrease. The prognosis of ATD seems better than described in literature and in our opinion this justifies long term intensive treatment in the first years. We also propose a follow-up protocol for patients with ATD

Ciliopathies: an expanding disease spectrum

Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing “outside-in” signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features

Unusual association of neurofibromatosis Type 1 and idiopathic syringomyelia-bulbia-pontia

Since the association of syringomyelia and neurofibromatosis is mostly related to intramedullary tumors, syringomyelia in neurofibromatosis type 1 (NF-1) is much rarer than in neurofibromatosis type 2 (NF-2). In this paper, we present a case of NF-1 associated with an idiopathic syringomyelia extending from conus medullaris to the upper pens and discuss the relationship between neurofibromatosis and syringomyelia

PULMONARY BLASTOMA - A RARE CASE OF CHILDHOOD MALIGNANCY

A case of pulmonary blastoma is presented with review of the radiographic, ultrasonographic and CT appearances of this rare malignant tumor of children

MAGNETIC-RESONANCE-IMAGING AND COMPUTED-TOMOGRAPHY IN THE DETECTION AND LOCALIZATION OF INTRAOCULAR FOREIGN-BODIES

In this experimental study, various foreign bodies were inserted into fresh bovine eyes, in different localizations. Twenty-one magnetic and non-magnetic foreign bodies, dimensions of which varied from 1.5 x 1.5 x 2 mm to 3.5 x 6 x 7 mm, were tried to detect by computed tomography (CT) and magnetic resonance imaging (MRI) scanning. In addition, further dissections were applied to check the ocular damage attributable to movement of the foreign bodies. Ferromagnetic foreign bodies have been shown to move in the eye and the risk of torsional forces being applied to the ferromagnetic foreign body seemed to cause intraocular complications during MRI scanning. All of the foreign bodies that were implanted in bovine eyes were recognized on CT scanning, except intraocular lenses. As a general rule, metallic foreign bodies produced beamhardening artifacts, but these artifacts did not cause any problem in detecting the localizations of foreign bodies

Andersson lesion: spondylitis erosiva in adolescents. Two cases and review of the literature

We present two patients with seronegative enthesopathy and arthropathy (SEA) syndrome and Andersson lesions. Peripheral arthritis and enthesitis with or without back pain are very important in the recognition of Andersson lesion. MRI seems to be the best method for early diagnosis

Splenic vascular malformations and portal hypertension in hereditary hemorrhagic telangiectasia: Sonographic findings

Hereditary hemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is an autosomal dominant disorder in which a variety of vascular dysplasias occur throughout the organ systems. We report the gray-scale and color Doppler sonographic findings in a case of hereditary hemorrhagic telangiectasia. Gray scale sonographic examination revealed massive splenomegaly, multiple dilated intrasplenic vascular structures (some with adjacent punctate calcifications), an aneurysmal dilatation of the splenic vein, dilated intrahepatic portal branches, and marked atrophy of the right hepatic lobe. Color Doppler sonography showed dilatation of the truncus coeliacus and high-velocity flow in the splenic artery. There were significant aliasing in the splenic hilum and an abnormal, arterialized flow in intrasplenic branches of the splenic vein. The splenic vein was massively enlarged with increased flow velocity and contained an isolated aneurysmal dilatation in the hilum. There were multiple serpiginous retroperitoneal collateral vessels, and the left gastric vein was dilated with hepatofugal flow. The patient had portal hypertension that developed secondary to the increased portal flow. (C) 2000 John Wiley & Sons, Inc

Brain MRI findings of father and son with tuberous sclerosis

In this report, we present the MRI findings of an infant who has infantile spasm and facial angiofibroma, and his asymptomatic father with brain manifestations of tuberous sclerosis. Cortical tubers and calcified subependymal nodules were detected in both of the patients. On father's MRI examination, one of the subependymal nodules, localizing near the right foramen of Monro enhanced after contrast injection, similar to a subependymal giant cell astrocytoma

Cerebellar arteriovenous malformation with multiple distal aneurysms of the posterior inferior cerebellar artery

Purpose: To discuss the computed tomographic and angiographic findings of a case with multiple peripheral aneursyms of the posterior inferior cerebellar artery in association with a cerebellar arteriovenous malformation. Methods: The computed tomography and angiography examinations were perpormed. Results: The comuted tomography revealed subarachnoid hemorrhage and directed the radiological evaluation. The exact nature of the vascular pathology was demonstrated by angiopraphy and the diagnosis was stated. Conclusion: Simultaneous occurrence of multiple intracranial aneurysms and arteriovenous malformations is a rare finding and their coexistence in the posterior fossa is extremely uncommon