[Di George syndrome: not always a pediatric diagnosis]

Area of Science:

• Genetics
• Medical Diagnostics
• Human Physiology

Background:

• Di George syndrome (22q11.2 deletion syndrome) is a complex genetic disorder.
• It is often associated with a wide spectrum of clinical manifestations.
• Delayed diagnosis can occur, particularly in adults presenting with atypical or overlapping symptoms.

Observation:

• A 51-year-old female patient with a history of epilepsy, mental retardation, chronic psychosis, and nephrocalcinosis presented with facial dysmorphism.
• Clinical examination revealed hypocalcemia and lymphopenia.
• Multiple encephalic calcifications were noted on neuroimaging.

Findings:

• Fluorescence in situ hybridization (FISH) confirmed a 22q11.2 microdeletion.
• This genetic finding validated the clinical suspicion of Di George syndrome.

Implications:

• This case underscores the need for considering 22q11.2 deletion syndrome in adult patients with a constellation of neurological, immunological, and developmental issues.
• Late diagnosis of Di George syndrome can impact long-term management and patient outcomes.
• Genetic testing, such as FISH, is crucial for confirming the diagnosis and enabling appropriate genetic counseling.