Endocrine Abstracts

Introduction: Di George syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart defects, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with hypocalcaemia, gastrointestinal problems, delayed psychomotor development, craniofacial abnormalities, tendency to develop seizures and psychiatric disorders.

Case report: We present the case of two patients with different peculiarities regarding age at diagnosis, clinical features that arose suspicion and lead to genetic testing. First case a 13.6 years old boy is diagnosed with Di George syndrome in FISH analysis after presenting for over 1 year muscle cramps in lower limbs and constipation due to hypocalcemia, multiple respiratory tract infections, mild facial dysmorphism (considered familial and did not raise any suspicion until now), scoliosis, seizures, attention deficit hyperactivity disorder. Laboratory tests: hypoparathyroidism – hypocalcemia, euthyroidism, negative for autoimmune thyroid disorder, normal serum cortisol and ACTH; normal CBC. No thymus evaluation or immunologic tests yet available. Normal renal and cardiac ultrasound.

Second case an 6-year-old girl with genetic confirmation of 22q11.2 microdeletion at 4 years old. Clinical presentation: normal stature, overweight (+3.34 S.D.), mild craniofacial dysmorphism: long face, tubular nose, mild hypoplasia of nasal wings, low-set ears posterior rotation, hypernasal voice. She was diagnosed with epilepsy at 11 months. Psychological evaluation: delay in expressive language and psychosomatic development, polymorphic dislalia. Laboratory tests: normal calcemia, euthyroidism. Normal renal ultrasound.

Conclusion: Common aspects for both patients are euthyroidism, developmental delay and learning difficulties, low performance intelligence quotient, absence of thymus disorders but recurrent infections in both patients’ medical history require further immunology tests to be assessed. Both are children with special needs requiring continual care and supervision (because of metal retardation, seizures, neurological and psychiatric disorders).