1/4. Fibrodysplasia ossificans progressiva: report of two cases.Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance but variable expressivity. Onset is typically in childhood and progressive involvement of the spine and proximal extremities leads to immobility and articular dysfunction. We present two cases with the typical features of FOP and a review of the pathogenesis, clinical manifestations and treatment options of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. 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 = 1keywords = rare disease (Clic here for more details about this article) |
3/4. scoliosis in association with infantile hypophosphatasia: a case study in two siblings.STUDY DESIGN: A case study of scoliosis in two siblings with infantile hypophosphatasia and review of literature are presented. OBJECTIVES: To report the rare occurrence of scoliosis in two siblings with infantile hypophosphatasia and detail problems in the surgical management of scoliosis in this rare disease. SUMMARY OF BACKGROUND DATA: To the authors' knowledge there is only one reported case of scoliosis in infantile hypophosphatasia. However, there is no report describing the nature of the curve, its progression, or the surgical management of scoliosis in infantile hypophosphatasia. methods: The first sibling was diagnosed shortly after birth to have scoliosis that progressed rapidly despite brace treatment. At 4 years, he underwent anterior convex arthrodesis and posterior T6-L1 Luque trolley stabilization. Because of further curve progression, he had to undergo corrective anterior and posterior osteotomies, stabilization, and fusion at 11 years of age. The second sibling was diagnosed to have scoliosis at the age of 3 years and underwent anterior thoracoscopic release and posterior Luque trolley stabilization. RESULTS: The first sibling with a mild form of infantile hypophosphatasia had to undergo multiple procedures to attain fusion and arrest of curve progression. The second sibling with a severe variety of infantile hypophosphatasia surprisingly attained a spontaneous fusion of the curve following the initial correction and stabilization with no further progression at 9-year follow-up. CONCLUSIONS: Curve progression and fusion rates following scoliosis correction are not related to the disease severity or biochemical findings. These rapidly progressive curves are amenable to surgical correction despite the unfavorable metabolic nature of the disease. hypercalcemia and seizures responding to pyridoxine are complications in the postoperative period of which the surgeon should be aware.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. zollinger-ellison syndrome with Marden-Walker syndrome. association of two rare diseases in a 5-year-old girl.A 5-year-old girl had the symptom of vomiting for four years. Gastric analysis showed elevated basal acidity unaffected by betazole stimulation. Roentgenographic examinations of the upper gastrointestinal tract showed two ulcers in the lesser curvature of the stomach. fasting serum gastrin values were remarkably elevated and a calcium infusion test resulted in noticeable increases in serum gastrin levels. These data were consistent with the zollinger-ellison syndrome. In addition, the patient demonstrated such anomalies as retarded physical and mental development, kyphoscoliosis, median cleft palate, joint contracture and unusual facies due to blepharophimosis, and malformed low-set ears. These clinical features were in accord with the Marden-Walker syndrome. To our knowledge, the present case presents the first case of the combination of these two rare entities in the literature.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |