An atrioventricular septal defect results in a is a large hole between the upper filling chambers (atria) and the lower pumping chambers (ventricles) of the heart. There is also only one valve between the atria and ventricles instead of two.
Aortic regurgitation occurs when the aortic valve (linking the left ventricle to the aorta) does not close properly when the heart contracts. This means blood leaks back into the left ventricle, which then has to work harder to pump the extra blood away from the heart to the rest of the body. This can lead to the enlargement and thickening of the ventricle wall.
Langerhans' cell histiocytosis (LCH) is a very rare condition with a high survival rate. Histiocyte cells normally help protect the skin, but sometimes the body has too many of them and they move around the body, causing damage.
Congenital hypothyroidism is a disorder affecting the thyroid gland, which is in the neck. The thyroid gland produces a hormone (chemical substance) called thyroxine, which is needed for normal growth and development.
Infantile neuroaxonal dystrophy (INAD) is a rare inherited disorder affecting the nerve axons (which are responsible for conducting messages) in the brain and other parts of the body, causing a progressive loss of vision and of physical and mental skills.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) is a very rare disorder affecting the ‘white matter’ of the brain, often leading to progressive loss of physical, and sometimes mental, skills over very many years.
This page from Great Ormond Street Hospital (GOSH) explains the neurological condition Vein of Galen Malformation (VGM). It aims to help understanding the condition, how it can be treated and what to expect when a child is admitted to GOSH.
Myelomeningocele is a type of spina bifida. This is when the neural tube has failed to close and the neural tissue is exposed on the baby’s back. The myelomeningocele will look like a sac sticking out from a baby’s back.
Optic neuritis (ON) is an attack of inflammation (swelling) of the optic nerve. The optic nerve is important in sending information from the eye to the brain about what we are seeing. ON is caused by the body’s immune system becoming mis-programmed and activating immune cells to attack the healthy myelin covering the optic nerve.