The mainstay of management of DiGeorge syndrome is , while bone marrow transplantation has also been carried out effectively.
USMLE® Step 1 style questions USMLE
USMLE® Step 2 style questions USMLE
A 3-year-old boy is brought to the office for evaluation. He has had recurrent episodes of otitis media and respiratory infections that have required antibiotic treatment. His fine motor skills are within normal limits. He appears unsteady when asked to stand still, but can walk quickly while he plays. He displays nystagmus during finger tracking. Which of the following findings is most likely present in this patient?
In thymic hypoplasia, thymic refers to the thymus which is an immune organ that sits between the lungs, hypo- refers to under, and -plasia refers to development.
So, thymic hypoplasia is a condition where the thymus is underdeveloped and has a reduced number of cells.
By week 4 of development, the embryo takes on a more recognizably “human” form—but to be honest, it still looks more like a shrimp than a baby.
At the head end of this little shrimp-like creature, a set of structures called the pharyngeal apparatus begins to develop, consisting of pharyngeal arches, clefts, and pouches.
The components of the pharyngeal apparatus develop into various head and neck structures, and sometimes multiple arches join together to give rise to a single structure.
Now, the epithelial tissue of the embryo’s third and fourth pouch turns into the inferior parathyroid glands and superior parathyroid glands, while the epithelial tissue that lines the ventral region of the third pouch forms the thymus.
Both glands then go on to break off from the pharyngeal wall and eventually attach to the posterior side of the thyroid.
The thymus now free, migrates down the middle of the pharynx, until it ends up in its final position in the front of the thorax where it fuses with its counterpart from the opposite side.
During childhood, the thymus occupies considerable room behind the sternum, in a part of the chest known as the mediastinum, a space in the chest between the lungs that also contains the heart.
But when people become older, it atrophies and is replaced by fatty tissue.
On chromosome 22, there’s a gene called TBX1 that controls the development of the 3rd and 4th pharyngeal pouch during the prenatal period.
So, when there’s a 22q11.2 deletion, there’s no TBX1 gene, and the thymus and parathyroid glands ends up underdeveloped.
The parathyroid glands also remains underdeveloped.
Normally it secretes parathyroid hormone which promotes the absorption of calcium in the intestines as well as kidneys while breaking down bones to release more calcium into the blood.
The ATM gene encodes a protein whose job is to recognize DNA damage and activate proteins to fix the damage.