1/6. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1 B.In Schwartz-Jampel syndrome micrognathia and jaw muscle rigidity may result in difficult or impossible tracheal intubation. Since the dose-response relationship to muscle relaxants is unknown in this rare disease we assessed by mechanomyography the neuromuscular response to the rocuronium in a two-year-old child with Schwartz-Jampel syndrome (SJS) Type 1 B. Rocuronium's dose-response curve was markedly shifted (3.5-fold dose) to the right when compared to healthy children and intubation conditions were improved. This resistance to NDMR may result from a lower acetylcholine degradation rate suggested as being the consequence of mutation of the gene encoding perlecan (HSPG2) in SJS. Thus, considerably higher doses of NDMR than usual may be required for facilitation of tracheal intubation in patients with SJS. Since evidence for genetic heterogeneity of SJS exists we also recommend incremental doses of a rapidly acting NDMR with continuous monitoring of neuromuscular function so as to assess the optimum relaxant dose.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
3/6. Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report.BACKGROUND CONTEXT: A case of spondyloepiphyseal dysplasia congenita (SEDC) with thoracolumbar kyphosing scoliosis and a clinical outcome of the patient's surgical treatment are reported. PURPOSE: We report a rare case and the effect of surgical treatment on the kyphosing scoliosis with SEDC with a review of literature. STUDY DESIGN/SETTING: SEDC is a rare disease and has a variety of spinal deformities. To our knowledge, a case of surgical treatment for the kyphosing scoliosis with SEDC was not reported before. methods: The patient, a 27-year-old woman, complained of severe back pain and dyspnea. She was operated on in 1997 for severe kyphosing scoliosis, using segmental spinal instrumentation and strut bypass graft. She was followed for 6 years, and clinical symptoms and plain X-ray films were investigated. RESULTS: Her kyphosis was corrected from 116 degrees to 86 degrees at the final follow-up; otherwise, her scoliosis was almost unchanged. Her symptoms were relieved. CONCLUSIONS: A case of SEDC with thoracolumbar kyphosing scoliosis was successfully treated by segmental spinal instrumentation and anterior strut bypass graft.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
4/6. Clinical and radiological diagnosis of progressive pseudorheumatoid dysplasia in two sisters with severe polyarthropathy.The aim of this case report is to describe unusual cases of progressive pseudorheumatoid dysplasia (PPD) affecting the axial skeleton and peripheral joints and to stress the importance of examining the entire skeleton for definite diagnosis and the importance of rehabilitation interventions. PPD is a rare familial disease characterized by generalized bone-cartilage dysplasia, progressive arthropathy, and platyspondyly. PPD presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and progressive pseudorheumatoid arthritis of childhood and is described as a specific autosomal recessive subtype of SED. Two sisters, 18 and 16 years old, with low back pain and polyarthritis are presented. Radiographic and magnetic resonance imaging of the cases revealed typical features characteristic for PPD-like platyspondyly, multiple intravertebral herniations, changes in metaphyses and epiphysis, and mega os trigonum. Consequently, PPD is a rare disease of childhood and should be kept in mind in the differential diagnosis of juvenile idiopathic arthritis to prevent delayed diagnosis and to begin rehabilitation interventions early. It is essential to carefully examine the entire body, particularly the axial skeleton, and to perform radiological evaluation of the spine. These illustrative cases serve to remind physicians to examine the entire skeleton and not to concentrate only on "branches" but also on the "trunk."- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
5/6. Membranous lipodystrophy: MR imaging appearance of the brain.Five patients with membranous lipodystrophy (lipomembranous polycystic osteodysplasia with progressive dementia) underwent magnetic resonance (MR) imaging of the brain. T2-weighted MR images showed atrophied cerebral white matter with dilated ventricles; increased signal intensity of the white matter; and decreased signal intensity of the thalamus, putamen, caudate nucleus, and cerebral cortex. Although each single finding is not specific, the combination of the above MR findings when coupled with skeletal lesions strongly suggests this rare disease.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
6/6. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).Spondylo-metaphyseal dysplasia Sutcliffe type is a rare disease characterised by oval vertebral bodies, coxa vara and metaphyseal irregularities. It was named spondylo-metaphyseal dysplasia corner fracture type by Langer et al. as corner fractures are a constant feature later in life. We report 3 further cases of spondylo-metaphyseal dysplasia Sutcliffe type; one without coxa vara and 2 bone dysplasias with distinctive radiographic features--different from spondylo-metaphyseal dysplasia Sutcliffe type, for diagnosis. Both of the latter showed corner fractures. Corner fractures are a characteristic but not diagnostic feature of spondylo-metaphyseal dysplasia Sutcliffe type.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |