11/138. Long-term management of an idiopathic gingival fibromatosis patient with the primary dentition. Gingival fibromatosis is usually seen as an isolated finding or occasionally in association with other features as part of a syndrome. The combination of gingival enlargement, hypertrichosis, epilepsy and mental retardation is also a commonly reported syndrome that features gingival fibromatosis. The following report is about a mentally retarded patient who has shown no sign of hypertrichosis, but has been taking phenobarbital as a long-term therapy drug for anti-convulsion. Long-term management of this patient has been carried out from the age of one-and-a-half years to 14 years old. The patient's clinical features, treatment received, histopathologic presentation of gingival fibromatosis and proper management of the condition are discussed. ( info) |
| In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting. ( info) |
13/138. Hurler-Scheie phenotype: a report of two pairs of inbred sibs. Four cases from two families with dermatan sulfate mucopolysacchariduria who lack alpha-L-iduronidase in peripheral leukocytes are described. The clinical and roentgenographic features of these cases represent an intermediate phenotype between Hurler's syndrome and Scheie's syndrome, and both parents in each family are first cousins. In the presence of parental consanguinity, a phenotypic variation or a third mutant allele at the iduronidase locus seems to be a more reasonable explanation for these cases than a genetic compound. ( info) |
14/138. Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome. The author presents the histologic and electron-microscopic examination of the cornea of a patient with Maroteaux-Lamy syndrome. Histochemic examinations established the absence of keratin sulfate and heparin sulfate in the accumulated material. By means of electron microscopy three cell types have been found in the stroma which may show, besides the storage of the accumulated glycosaminoglycans, the morphologic signs of the pathologic enzyme-substrate connection. Considering the presence of the lipidlike material, the question arises whether the Maroteaux-Lamy syndrome belongs to mucolipidoses. ( info) |
15/138. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments. Body heights were 168 and 164 cm, respectively. Enlargement of liver and spleen, cardiac insufficiency, marked corneal clouding, and hernias were absent. Both patients had signs of cervical and lumbar radiculopathy and cervical myelopathy (tetraspastic syndrome). vacuoles, acid phosphatase-positive granules, and metachromatic inclusions were found in peripheral lymphocytes; granulocytes and monocytes contained azurophilic hypergranulation. By electron microscopy, clear membrane-bound vacuoles were noted in lymphocytes (but not in neurtrophils), fibroblasts, schwann cells, mural cells of the vasculature, and epidermal cells. leukocytes, urine, and cultured skin fibroblasts revealed a deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase). The 6-year-old daughter of one of the patients has an intermediate level of this enzyme. fibroblasts exhibited a constant intracellular accumulation of 35S-labeled mucopolysaccharides. The urine of one of the brothers showed an abnormal mucopolysacchariduria; in both, the presence of urinary dermatan sulfate could be demonstrated. These findings conform to the mild B variant of Maroteaux-Lamy syndrome with high longevity. ( info) |
| A young woman, with negative family history, committed suicide after 6 years of myoclonus and mental deterioration. The neurons contained atypical myoclonus bodies which differed from the classical type in distribution, histochemistry and light and electron microscopic appearance. ( info) |
17/138. Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature. Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility. The most notable radiographic findings are a lacy iliac crest apophysis, hip dysplasia, double vertebral hump, and odontoid hypoplasia with atlanto-axial instability. patients may require orthopedic femoral osteotomy, total hip arthroplasty, early meniscectomy, realignment osteotomy, or posterior cervical spine fusion. patients with the Smith McCort variant have similar orthopaedic manifestations but are not mentally retarded. The diagnosis may be confirmed histologically, but no biochemical or developmental defect has been defined as yet. The authors report seven affected members of two families from guam and describe their orthopaedic treatment. The authors review the historical reports, clinical findings, and diagnostic radiographic features in DMC syndrome. ( info) |
18/138. Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. We present case reports of five patients with severe forms of mucopolysaccharidoses who developed postobstructive pulmonary oedema during anaesthesia. The difficulties of anaesthesia in these patients and the particular predisposition that these patients exhibit for the development of postobstructive pulmonary oedema is discussed. ( info) |
19/138. Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. IMPLICATIONS: Anesthetic management of patients with mucopolysaccharidoses is well known. The anesthetic implications of patients with galactosialidosis may be similar to those with other well documented mucopolysaccharidoses, but no cases have been reported in the anesthesia-related literature. We present a case describing anesthetic management of a patient with galactosialidosis undergoing cervical spine surgery. ( info) |
20/138. Kniest syndrome with dominant inheritance and mucopolysacchariduria. A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria. ( info) |