Gaucher's disease with myocardial involvement in pregnancy.

Sao Paulo Med J · May 2002

Case Reports

Gaucher's disease with myocardial involvement in pregnancy.

Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions. ⋯ Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed.

expand abstract… mark as read…
- Maria Regina Torloni, Kátia Franco, and Nelson Sass.
- Dr. Mário de Moraes Altenfeder Hospital Maternity School, São Paulo, Brazil. ginecologia@terra.com.br
- Sao Paulo Med J. 2002 May 2; 120 (3): 909290-2.
ContextDescribed originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions.Case ReportTwo pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed.

Pubmed Copy Citation Plaintext

Add institutional full text...
Notes
Knowledge, pearl, summary or comment to share?

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.

Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.

Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.

Links can be included with: [my link to pubmed](http://pubmed.com)

Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")

For footnotes use [^1](This is a footnote.) inline.

Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..
hide…

Gaucher's disease with myocardial involvement in pregnancy.

Notes

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

What will the 'Medical Journal of You' look like?

Start your free 21 day trial now.