1/24. Clinical spectrum of infantile free sialic acid storage disease.Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) "Coarse facies," fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections.- - - - - - - - - - ranking = 1keywords = storage disease, storage (Clic here for more details about this article) |
2/24. Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay.- - - - - - - - - - ranking = 0.013428214843857keywords = storage (Clic here for more details about this article) |
3/24. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated massive accumulation of diastase-resistant periodic acid-Schiff-positive material in the skeletal muscle cells and epidermal keratinocytes of all 3 fetuses. Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type IV with onset in the early second trimester.- - - - - - - - - - ranking = 0.00032317741367274keywords = enzyme (Clic here for more details about this article) |
4/24. Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.A case of recurrent hydrops fetalis, diagnosed on second trimester's ultrasonography, has led to the diagnosis of sialic acid storage disease. No classic etiology was found after the first accident. The recurrence in subsequent pregnancy raised the possibility of a storage disease that was confirmed by amniocentesis. The diagnosis of Salla's disease was based on high levels of free sialic acid in amniotic fluid and fetal cells culture and by specific histologic features on fetopathologic examination. Diagnosis of inherited diseases is important because it implies a high risk of recurrence which makes mandatory genetic counseling and prenatal care in subsequent pregnancies.- - - - - - - - - - ranking = 0.98657178515614keywords = storage disease, storage (Clic here for more details about this article) |
5/24. prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.We report on the early prenatal diagnosis of fetal gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.- - - - - - - - - - ranking = 9.3821633574869keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
6/24. Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which usually present as vacuolization of placental cells. We describe a rare case of recurrent hydrops that was detected by placental examination.Through light microscopy, electron microscope (EM) studies and beta-glucocerebrosidase activity the disease was identified as Gaucher's disease.- - - - - - - - - - ranking = 0.013428214843857keywords = storage (Clic here for more details about this article) |
7/24. Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme a dehydrogenase deficiency.We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme a dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by dna analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease.- - - - - - - - - - ranking = 0.0016158870683637keywords = enzyme (Clic here for more details about this article) |
8/24. mucopolysaccharidosis vii as cause of fetal hydrops in early pregnancy.We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal.- - - - - - - - - - ranking = 0.00032317741367274keywords = enzyme (Clic here for more details about this article) |
9/24. Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.BACKGROUND: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date. CASE: This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with beta-glucuronidase deficiency which is pathognomonic for MPS VII. prenatal diagnosis was then performed in subsequent pregnancies. CONCLUSION: The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed.- - - - - - - - - - ranking = 1.220063427329keywords = lysosomal storage, storage (Clic here for more details about this article) |
10/24. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome.BACKGROUND: The importance of germ-line mosaicism in genetic disease is probably underestimated, even though recent studies indicate that it may be involved in 10% to 20% of apparently de novo cases of several dominantly inherited genetic diseases. methods AND RESULTS: We describe here a case of repeated germ-line transmission of a severe form of long-QT syndrome (LQTS) from an asymptomatic mother with mosaicism for a mutation in the cardiac sodium channel, SCN5A. A male infant was diagnosed with ventricular arrhythmias and cardiac decompensation in utero at 28 weeks and with LQTS after birth, ultimately requiring cardiac transplantation for control of ventricular tachycardia. The mother had no ECG abnormalities, but her only previous pregnancy had ended in stillbirth with evidence of cardiac decompensation at 7 months' gestation. A third pregnancy also ended in stillbirth at 7 months, again with nonimmune fetal hydrops. The surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q), previously reported as a de novo mutation causing neonatal ventricular arrhythmia and LQTS. Initial studies of the mother detected no genetic abnormality, but a sensitive restriction enzyme-based assay identified a small (8% to 10%) percentage of cells harboring the mutation in her blood, skin, and buccal mucosa. Cord blood from the third fetus also harbored the mutant allele, suggesting that all 3 cases of late-term fetal distress resulted from germ-line transfer of the LQTS-associated mutation. CONCLUSIONS: Recurrent late-term fetal loss or sudden infant death can result from unsuspected parental mosaicism for LQTS-associated mutations, with important implications for genetic counseling.- - - - - - - - - - ranking = 0.00032317741367274keywords = enzyme (Clic here for more details about this article) |
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