[Intravenous immunoglobulins (IVIG) in treatment of an antiphospholipid syndrome in pregnancy].

A patient with a history of early onset preeclampsia and repeated fetal death, high titer IgG anticardiolopin antibodies and prolonged aPTT was treated during her third pregnancy with intravenous immunoglobulins (IVIG) from the seventh month of pregnancy onwards. Every month--after a loading dose of 30 g immunoglobulins--a daily infusion of 3 g immunoglobulin was for three days was given during six consecutive cycles. The patients pregnancy ended preterm with a life birth, delivered by cesarean section, because of a severe preeclampsia.

[Prenatal diagnosis of sialidosis, a defect of the lysosomal enzyme neuraminidase].

Sialidosis, a lysosomal storage disease, ranged as oligosaccharidosis, is a genetic enzyme defect with a significantly restricted survival rate of the child concerned. After the preceded birth of a child who died of sialidosis, we succeeded in the correct prenatal exclusion of the disease with the prediction of a heterocygotic carrier status by biochemical analysis of cultivated amnion cells. The growth of these cells as well as the postnatal examined fibroblasts was significantly reduced.

Childhood neuromuscular disease with rimmed vacuoles.

A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a "myopathic" EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous "rimmed" vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.

N-Acetylneuraminic acid storage disease.

Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, ataxia, and clinical and radiologic findings of a mild mucopolysaccharidosis. A diagnosis of Salla disease was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and skeletal abnormalities of dysostosis multiplex were found in early childhood. Free sialic acid in the urine was identified as N-acetylneuraminic acid by 1H-NMR spectroscopy.

Neuraminidase deficiency presenting as non-immune hydrops fetalis.

A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed.

The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.

Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in neurodegenerative and storage disorders: 20 children had various mucopolysaccharidoses, 8 sphingolipidoses , 3 mucolipidoses, 2 oligosaccharidoses , 3 ceroidlipofuscinoses and 4 had various leucodystrophies . Diagnosis in all patients except Alexander's disease was established by biochemical or histological means. The main findings on CT were cerebral atrophy with enlargement of the ventricles and the subarachnoid spaces and hypodensity of the white matter.

Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases.

Computed tomography (CT) was performed on 34 children with different disorders of complex carbohydrate metabolism and related storage diseases to obtain data on the degree of cerebral involvement. The main findings on CT were cerebral atrophy and hypodensity of the white matter. There was a great variability in these CT findings, even in siblings.

Liver pathology in transient neonatal hyperammonemia.

Ultrastructural investigations have been performed on two cases of transient neonatal hyperammonaemia (TNH). This newly recognized metabolic disorder is chiefly characterized by severe hyperammonaemia in the postnatal period, a comatous state, absence of abnormal organic aciduria, normal activity of urea cycle enzymes and, usually, complete recovery. The aetiology is presently unknown.

[Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].

Sphingolipidoses and heteroglycanoses are inborn errors of the carbohydrate metabolism. Biochemically and clinically hetero-glycanoses are sub-divided into mucopolysaccharidoses, oligosaccharidoses and mucolipidoses. These disorders of complex carbohydrate metabolism are due to the inborn defect of one or more lysosomal enzymes which in turn cause an intracellular accumulation of not-degraded complex carbohydrates corresponding to a wide pattern of clinical expression and symptomatology ranging from psychomotor retardation without any dysmorphic signs to severe features of a storage disease with dwarfism, peculiar facial appearance, organomegaly and skeletal changes.

Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Two members of a consanguineous Italian family are described with symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multi-vacuolated lymphocytes.

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes.

Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.

Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with beta-galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterizing various forms of beta-galactosidase deficiency.

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism.

A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.

Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.

Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.

Increased urinary excretion of keratan sulfate in fucosidosis.

In two children exhibiting the clinical symptoms of fucosidosis, the diagnosis was biochemically ascertained by the demonstration of a profound altpha-L-fucosidase deficiency in cultured skin fibroblasts. The non-dialysed urines of these fucosidosis patients were separated into two fractions by chromatography on Biogel P-2. The first fraction containing the glycosaminoglycans was further fractionated on Dowex 1 X 2 by stepwise elution with increasing NaCl concentrations.

Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.

We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature.

Mucolipidosis I--a sialidosis.

Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found.

The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

The mucopolysaccharidoses are genetic disorders of glycosaminoglycan metabolism. Patients with these diseases accumulate within the lysosomes of most tissues excessive amounts of dermatan and/or heparan sulfates, or of keratan sulfate. The clinical consequences of such glycosaminoglycan storage range from skeletal abnormalities to cardiovascular problems, and to motor and mental retardation.