Question

What is the significance of Hypocalcemia in people with DiGeorge Syndrome? Why is Calcium so important and how does the lack of calcium affect people with DiGeorge Syndrome?

Answer 1

DiGeorge syndrome is also called velocardiofacial syndrome. It is associated with defective development of both thymus and parathroid gland. There is hypoparathyroidism.

Microdeletion of chromosome 22q 11.2 is present . Congenital, cardiovascular and facial developmental defect are present.

Complications are severe infections, hypocalcemia and seizures.

In Hypoparathyroidism symptoms of hypocalcemia like seizures, tremors, or tetany in the neonatal period may be present . Active transport of calcium from mother to fetus is abruptly interrupted at birth, and calcium intake within the first few days of life is typically insufficient, particularly in sick neonates. This hypocalcemic stress of birth puts demand on a reduced parathyroid reserve,and hypocalcemia occurs. In children with severe parathyroid hy-poplasia, hypocalcemia is persistent.

More commonly, hypocalcemia is transient, and as dietary calcium intake increases,the remaining parathyroid activity supplies sufficient PTH to meet metabolic demands. Recurrence of hypoparathyroidism may be precipitated during periods of increased metabolic demand, such as in acute illness.

Importance of calcium is that it  is very essential in nerve impulse transmission and muscle contraction, building bones  and teeth, blood clotting, regulating heart beat and blood pressure.

Lack of calcium shows signs and symtoms of hypocalcemia. Which are

Developmental delay.

Seizures

Jitteriness.

Weakness.

Facial spasms.

Feeding problems.

Rickets. Etc