| The activity of N-acetyl galactosamine-6-sulfate sulfatase was studied for the first time in the liver and brain of a patient with a clinically typical case of Morquio syndrome with keratosulfaturia. As has been demonstrated in the fibroblasts of patients with this syndrome, this enzymatic activity was markedly decreased in both organs. Neuropathological examination revealed moderately swollen neurons containing PAS-positive, coarse globular inclusions in the cerebral cortex, Ammon's horn, basal ganglia, and thalamic nuclei. Ultrastructurally, the inclusions consisted of stacked, straight or loose, wavy membranes of various lengths, often associated with pale or moderately electron dense homogeneous "lipid droplets." These ultrastructural features of the inclusions were closely similar to the granulomembranous bodies of Hurler syndrome and the inclusions described in type B of the Sanfilippo syndrome. Unlike those mucopolysaccharidoses, however, no abnormalities were found in the gangliosides in the brain of the patient with Morquio syndrome. ( info) |
2/96. Cervical myelopathy in mucopolysaccharidosis type IV. We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications. ( info) |
3/96. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty. BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results. ( info) |
4/96. Anaesthetic management of patients with mucopolysaccharidosis iv presenting for major orthopaedic surgery. mucopolysaccharidosis iv, also known as Morquio-Brailsford syndrome, is an inherited autosomal recessive disorder of mucopolysaccharide metabolism leading to accumulation of keratan sulphate in the connective tissue of multiple organ systems. Based on a case report, the anaesthetic implications for the treatment of patients with MPS IV presenting for major orthopaedic surgery are discussed. ( info) |
5/96. Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families. Two families with "new" types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in the first family and shortening of the hands and feet in the second. ( info) |
6/96. Anesthetic care for the child with Morquio syndrome: general versus regional anesthesia. Morquio syndrome is a subtype of the mucopolysaccharidoses (MPS IV) characterized by the intracellular accumulation of keratin sulfate. Anesthetic issues related to the primary disease process include infiltration of tissues with keratin sulfate leading to distortion of upper airway anatomy with difficult or impossible endotracheal intubation, infiltration of the cervical spine with odontoid hypoplasia placing these patients at risk for atlanto-axial subluxation and quadriparesis, as well as alterations in cardiorespiratory function. Two children with Morquio syndrome who required anesthetic care during lower extremity orthopedic procedures are presented. The anesthetic implications of Morquio syndrome are reviewed. General anesthesia was used in one case, whereas continuous spinal anesthesia, which was used in the second case, is reported for the first time in a child with mucopolysaccharidoses. ( info) |
7/96. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease. ( info) |
8/96. Total knee arthroplasty in patients with inherited dwarfism--a report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia. In Morquio's disease and in hereditary spondylo-epiphyseal dysplasia of longer duration, malalignment, instability and unfavourable anatomy are generally the main surgical problems, but as these patients nowadays do not have a reduced life expectancy, it is worthwhile giving them a functional replacement for their severely deformed and painful knees. We report three patients with inherited dwarfism, in whom a replacement of the knee was performed. ( info) |
9/96. corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). PURPOSE: To illustrate a good visual outcome following penetrating keratoplasty in a patient with Sly disease, a rare mucopolysaccharidosis (MPS) caused by a deficiency of beta-glucuronidase. methods: A 15-year-old male with progressive bilateral corneal opacification had a complete medical, genetic, and ophthalmic evaluation followed by a penetrating keratoplasty. RESULTS: The cornea has remained clear for two years following surgery. Histopathology of the corneal button demonstrated vacuoles and granular inclusions consistent with this lysosomal storage disease. CONCLUSION: While research is ongoing in the fields of enzyme replacement and bone marrow transplantation, these treatments may not alleviate or reverse the corneal clouding. This case illustrates that cornea transplantation may be a valuable treatment option for visually rehabilitating such patients. ( info) |
10/96. Dental findings in three siblings with Morquio's syndrome. Three siblings with Morquo's syndrome are described. Cultured fibroblasts from the youngest sibling demonstrated a total absence of N-acethylgalactosamine-6-sulphate-sulphatase whereas beta-galactocidase activity was normal, thus verifying the diagnosis of MPS-IV A. Dental features such as pointed cusps, spade-shaped incisors, thin enamel and pitted buccal surfaces were observed in all three children. Furthermore, in all three siblings the TMJ was affected with severe resorption of the head of the condyle. Histological examination of exfoliated primary molars showed a band of increased porosity following the striae of Retzius in the outer part of the enamel. These developmental disturbances were occasionally associated with minor localized defects in the enamel surface. The importance of close monitoring of dental development and regular dental care in order to prevent attrition of the teeth, loss of vertical face height and subsequent risk of TMJ dysfunction is emphasized. ( info) |