Pediatric Definition - DiGeorge Syndrome
DiGeorge Syndrome
DiGeorge syndrome is associated with 22q11.2 deletion. DiGeorge syndrome is an autosomal dominant disorder which lead to failure in the development of the third and fourth pharyngeal pouches.
This may lead to impair development of thyroid and parathyroid gland. Besides that cardiac defect may also occurs. Thymic hypoplasia may occur. Absent of thymic can be detected from chest x ray.
Patient may present with cleft palate and microcephaly. There will be delay in language and speech development. Hypoparathyroidism may occur due to hypocalcemia.
There is a possibility of developing psychosis.
There will be reduction in the number of T lymphocytes with preservation of the function of T lymphocytes.
The treatment for DiGeorge syndrome may include supplement of calcium, parathyroid hormone replacement and vitamin D. Surgery is considered for congenital cardiac defect. antibiotic is considered for opportunistic infection. Bone marrow transplant or thymic graft is considered in patient with absent of immunity due to lack of T lymphocytes.
DiGeorge syndrome may overlap with Shprintzen syndrome and velocardiofacial syndrome.
DiGeorge syndrome is associated with 22q11.2 deletion. DiGeorge syndrome is an autosomal dominant disorder which lead to failure in the development of the third and fourth pharyngeal pouches.
This may lead to impair development of thyroid and parathyroid gland. Besides that cardiac defect may also occurs. Thymic hypoplasia may occur. Absent of thymic can be detected from chest x ray.
Patient may present with cleft palate and microcephaly. There will be delay in language and speech development. Hypoparathyroidism may occur due to hypocalcemia.
There is a possibility of developing psychosis.
There will be reduction in the number of T lymphocytes with preservation of the function of T lymphocytes.
The treatment for DiGeorge syndrome may include supplement of calcium, parathyroid hormone replacement and vitamin D. Surgery is considered for congenital cardiac defect. antibiotic is considered for opportunistic infection. Bone marrow transplant or thymic graft is considered in patient with absent of immunity due to lack of T lymphocytes.
DiGeorge syndrome may overlap with Shprintzen syndrome and velocardiofacial syndrome.