Literature DB >> 837559

Morphology of the placenta in fetal I-cell disease.

J Rapola, P Aula.   

Abstract

Placentas were studied from three interrupted pregnancies of a mother whose first liveborn child had I-cell disease (mucolipidosis II). I-cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in two pregnancies, but in the third case placenta was the only available product of conception. In every placenta extensive vacuolization of the syncytiotrophoblastic layer of the chorionic villi and chorionic mesenchymal cells was found. In electron microscopy the inclusions were identical to those of other tissues in I-cell disease. The importance of histological study of placenta in unexplained spontaneous abortions needs to be emphasized, since this may be the only way of detecing new cases of lysosomal storage diseases.

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Year:  1977        PMID: 837559     DOI: 10.1111/j.1399-0004.1977.tb01286.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

1.  Needs for animal models of human diseases of the reproductive system.

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2.  Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.

Authors:  J Rapola; R Salonen; P Ammälä; P Santavuori
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Authors:  Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; Andrea Superti-Furga
Journal:  Eur J Pediatr       Date:  2004-12-03       Impact factor: 3.183

4.  Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis.

Authors:  J Nelson; B Kenny; D O'Hara; A Harper; D Broadhead
Journal:  J Clin Pathol       Date:  1993-04       Impact factor: 3.411

5.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154

6.  Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

Authors:  Gregory Costain; Michal Inbar-Feigenberg; Maha Saleh; Shimrit Yaniv-Salem; Greg Ryan; Eric Morgen; Elaine S Goh; Gen Nishimura; David Chitayat
Journal:  J Pediatr Genet       Date:  2018-03-09

7.  Non-multiple-Sclerosis-Related Typical and Atypical White Matter Disorders: Our Experience in the Last 2 Years in Both Children and Adults From a Tertiary Care Center in India.

Authors:  Sadanandavalli Retnaswami Chandra; Chakravarthula Nitin Ramanujam; Kishore Kalya Vyasaraj; Rita Christopher; Hansashree Padmanabha; Annapureddy Jagadish; Faheem Arshad; Abhishek Gohel
Journal:  J Pediatr Neurosci       Date:  2019 Jan-Mar

8.  Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.

Authors:  Parith Wongkittichote; Garland Michael Upchurch; Louis P Dehner; Timothy Wood; Jorge L Granadillo
Journal:  Mol Genet Metab Rep       Date:  2021-03-25
  8 in total

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