Clinico-pathologic conference: 17-day-old girl with hypothermia, decreased feedings, and liver and kidney failure.
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Fatal Outcome↗
Biomedical subjects
Enid Gilbert Barness
Publications and source records attributed to Enid Gilbert Barness.
15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures.
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Abnormalities, Multiple↗
Fifteen-year-old boy with stress-induced arrhythmia and sudden death.
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Adolescent↗
Clinicopathologic conference: Barth Syndrome.
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
Abnormalities, Multiple↗
Clinico-pathologic conference: an 11-year-old girl with lupus erythematosus, venous thromboses, and purpura fulminans.
An 11 year old girl with known diagnosis of lupus erythematosus with nephritis was admitted with respiratory distress during an episode in which she had infection with varicella-zoster virus complicated by purpura fulminans. She had a downhill course, terminating with a pulmonary embolus.
Chickenpox↗
Lethal infantile cortical hyperostosis.
We present an unusual case of the rare occurrence of lethal infantile cortical hyperostosis (Caffey disease). Clinical and Pathological aspects are discussed.
Bone and Bones↗
Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.
A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.
Abnormalities, Multiple↗