Sunday, June 17, 2012

Ripe cheese odor

Leucine is one of the amino acids, which are the building blocks of proteins. Leucine is an essential amino acid meaning that the body cannot make leucine from scratch; it has to be obtained from the diet.
Isovaleric acidemia is a rare inherited disease in which there is a deficiency of the enzyme responsible for the processing of dietary leucine. Failure to process leucine results in the abnormal accumulation of isovaleric acid and other compounds, resulting in an affected individual having a body odor reminiscent of ripe cheese or sweaty feet/socks.
Isovaleric acidemia is a serious disorder that usually manifests in infancy with poor feeding, vomiting, convulsions and due to abnormal accumulation of isovaleric acid and other compounds there is damage to the nervous system.
Lee H et al. A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. Hong Kong Med J, 2010 16(3):219-22. Go to reference

Socks and cheese

Saturday, June 2, 2012

Cottage loaf sign (TAPVC)

The heart is one of the first organs to function; it begins to beat from about 5 weeks of pregnancy. Normally after birth, 4 pulmonary veins return oxygenated blood from the lungs to the heart’s left side. This blood is then pumped by the heart to the rest of the body.
During pregnancy, when the future baby’s heart is developing, abnormalities in the heart’s development can occur. One of these abnormalities is total anomalous pulmonary venous connection/drainage (TAPVC) where the 4 pulmonary veins do not drain into the heart’s left side.
Patients with TAPVC because of the abnormal internal anatomy may on chest X-ray have an appearance akin to a cottage loaf – cottage loaf sign.

Somerville J, Grech V. The chest x-ray in congenital heart disease 1. Total anomalous pulmonary venous drainage and coarctation of the aorta. Images Paediatr Cardiol, 2009 11(1):7–9. Go to reference
Go to Improbabble version of this post

Panel A ‘Cottage loaf’, ‘snowman’ or ‘figure of 8’ heart shape due to total anomalous pulmonary venous drainage, image reproduced with kind permission of the Images in Pediatric Cardiology journal. Panel B Outline of cottage loaf. Panel C Cottage loaf (a rustic traditional English loaf of bread made with yeast and white flour) consisting of two parts, the upper part is smaller than the lower part, image from Wikimedia Commons the free media repository.