Cases reported "Mucolipidoses"

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1/147. prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.

    prenatal diagnosis of mucolipidosis type II (I-cell disease) can be performed quickly and reliably by electron microscopy of chorionic villus tissue. This study reports the results of studies in three prenatal assessments (two families) where the pregnancy was at one in four risk of the disorder. In all three cases, electron microscopy showed marked vacuolation in chorionic villus cells, consistent with the fetus being affected by the disorder. Further studies in cultured chorionic villus cells showed a marked deficiency of a number of lysosomal enzymes. All pregnancies were terminated. follow-up studies in fetal tissue (where available) confirmed the prenatal diagnosis as correct. ( info)

2/147. Use of the palmaris brevis flap for preventing recurrent median nerve compression in mucolipidosis.

    In a patient with severe, recurrent bilateral carpal tunnel syndrome secondary to mucolipidosis, the 'turnover' palmaris brevis flap was used in conjunction with internal neurolysis. The procedure was effective in alleviating symptoms of recurrent carpal tunnel compression in both hands. ( info)

3/147. Orthopaedic management in four cases of mucolipidosis type III.

    Four patients with mucolipidosis type III, three of them brothers, were seen initially in the first two decades of life. Their main symptoms were carpal tunnel syndrome, trigger fingers and generalized joint stiffness. Radiographs showed spinal deformities and hip dysplasia, but these were not causing pain. carpal tunnel syndrome was treated surgically but joint stiffness and hip and knee contractures were managed by physiotherapy. Up to the age of 24 none of these patients has had pelvic osteotomy for hip dysplasia; this operation, not yet reported in mucolipidosis type III, may eventually be necessary. ( info)

4/147. Orthopaedic manifestations of mucolipidosis III: an illustrative case.

    The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility. This article presents a series of complex orthopaedic problems, including avascular necrosis of the talus, encountered in one such patient whose presentation had initially given the impression of a mild form of the disease. ( info)

5/147. Type I sialidosis: a clinical, biochemical and neuroradiological study.

    We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years. ( info)

6/147. MRI appearances of hip abnormalities in mucolipidosis, type III.

    Mucolipidosis type III (ML-III) is a lysosomal storage disease often presenting with joint involvement. We report the MRI appearance of the hips in two siblings with ML-III showing abnormal signal intensity within the hips with increased synovial thickness. Although the etiology is uncertain this may reflect a fibrous response to ML-III. ( info)

7/147. I-cell disease (Mucolipidosis II).

    I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the "mucopolysaccharidoses" but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit "abnormal lysosomes". Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum. We present a patient with I-cell disease diagnosed on the basis of clinical, radiological and biochemical features. The mother of this child was pregnant and the fetus was also found to be affected. ( info)

8/147. Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

    Congenital sialidosis is a rare lysosomal storage disease caused by a primary neuraminidase deficiency which results from defects in the neuraminidase gene on chromosome 6p. The inheritance is autosomal recessive. patients exhibit excessive urinary excretion of bound sialic acid and decreased or undetectable amounts of neuraminidase activity in various tissues. The clinical expression is variable, but ascites and hepatosplenomegaly are hallmarks of the disease. Skeletal abnormalities, facial dysmorphism and inguinal herniae have been described in most of the few reported cases. We describe a baby girl with biochemically proven sialidosis, who in addition to the above clinical features, had severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous, macular rash. Homozygosity for a frameshift mutation at residue 623 of the neuraminidase cDNA was found. We speculate that the additional features found in our patient might be associated with the here described genotype of congenital sialidosis. CONCLUSION: Severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous macular rash might be associated features of congenital sialidosis. ( info)

9/147. Mucolipidosis IV in an African American patient with new findings on electron microscopy.

    PURPOSE: We report an unusual case of mucolipidosis IV in a patient of African ancestry, with intracytoplasmic inclusions of the corneal endothelium found on electron microscopy. METHOD: Clinical description with light and electron microscopy. RESULTS: We describe a case of mucolipidosis IV diagnosed in a patient of African ancestry after penetrating keratoplasty. Electron microscopic evaluation revealed intracytoplasmic inclusions in both the corneal epithelium and endothelium. CONCLUSION: The diagnosis of mucolipidosis in a patient of African ancestry is unusual, as this genetic disorder is found predominantly in individuals of Jewish descent. Corneal endothelial involvement in mucolipidosis IV has not previously been reported. ( info)

10/147. Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgery.

    Type I and II sialidosis are autosomal recessively inherited glycoprotein storage disorders. Until now, there has been no published reports of patients with these conditions requiring anesthesia. We present the case of a 31-year-old male afflicted with type I sialidosis who underwent a surgical jejunostomy. Regional (spinal) anesthesia was carried out uneventfully. We discuss the anesthetic challenges posed by patients with type I and II sialidosis. Airway assessment and management is particularly crucial. ( info)
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