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A premature newborn infant with congenital ascites

Article Abstract:

A pregnant woman was admitted to a hospital after an ultrasound scan revealed that her infant had fetal hydrops. This condition is characterized by fluid build-up in soft tissues and fluid in the abdominal cavity. The infant was born prematurely and needed paracentesis to remove large quantities of fluid from the abdominal cavity. Examination of the placenta revealed that the infant probably had a lysosomal storage disorder. Biochemical analysis of blood cells showed that she had galactosialidosis, which is caused by deficiencies of the enzymes beta-galactosidase and alpha-neuraminidase.

Author: Heffner, Linda J., Roberts, Drucilla J., Nanowitz, Marvin
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1997
Diagnosis, Causes of, Ascites, Metabolism, Inborn errors of, Inborn errors of metabolism, Hydrops fetalis

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Case 25-2003: a newborn boy with petechiae and thrombocytopenia

Article Abstract:

A newborn baby with small skin hemorrhages and a low blood platelet count was diagnosed with congenital cytomegalovirus infection. Cytomegalovirus is the most common infectious organism to affect newborn babies. The baby's mother had also tested positive for cytomegalovirus infection. She may have contracted the infection from an older child who had been exposed to the virus at a day care center.

Author: Modlin, John F., Grant, P. Ellen, Makar, Robert S., Roberts, Drucilla J., Krishnamoorthy, Kalpathy S.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2003
Diseases, Infants (Newborn), Newborn infants, Cytomegalovirus infections, Neonatal diseases

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Case 26-2006: A 19-year-old woman with difficulty walking

Article Abstract:

A case study is presented of a 19-year-old woman who had difficulty in walking and had painful spasms in her legs and arms. The symptoms leading to the diagnosis of the patient's disorder as dystonia are described along with the tests conducted for the confirmation of the diagnosis and the treatment for the disorder.

Author: Grant, P. Ellen, Venna, Nagagopal, Sims, Katherine B.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
Dystonia, Case study

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Subjects list: Case studies
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