Incomplete form of Di George syndrome (DGS) which is characterized by hypoparathyroidism, thymic aplasia, facial dysmorphism, and cardiovascular anomalies may present with subclinical endocrine problems and may result in delay in diagnosis.
Case 1: A 2-year-old girl born to unrelated healthy parents was consulted due to mild hypocalcemia before angiographic evaluation for tetralogy of Fallot. Anthropometric evaluation was appropriate for her age. She had perioral cyanosis, mild hypertelorism, high palate, and minor anomaly in her toe. She had borderline hypocalcemia, low parathormone, and high TSH levels in biochemical and hormonal evaluation. Thymus was absent in her chest X-ray. CD3, CD4, CD8, CD19 were low, total complement level, quantitative immunoglobulin levels, and in vitro lymphocyte transformation tests were normal. Case 2: A 31-day-old female patient born to unrelated healthy parents was consulted due to high TSH levels. Anthropometric evaluation was appropriate for her age. She had clubfoot, low-set ears, micrognathia, and high palate. In laboratory evaluation, hypocalcemia and high TSH level were determined. Ostium secundum ASD and bilateral hydronephrosis were observed in echocardiography and renal ultrasonography. Thymus gland was present in chest X-ray.
DOUBLE FISH analysis was performed. Case 1: Heterozygote 22q11 mutation was determined and the patient was diagnosed as having incomplete DGS. Case 2: Homozygote 22q11 deletion was determined and the patient was diagnosed as having DGS.
It’s important to perform DOUBLE FISH analysis in cases with subclinical endocrine problems if incomplete DGS is suspected. Thus, major problems (such as graft versus host disease due to transfusion), which may patient face in the future, might be prevented.