GAPO syndrome: first patients with partially empty sella

Area of Science:

• Genetics and rare diseases
• Pediatric endocrinology
• Neuro-ophthalmology

Background:

• GAPO syndrome is a rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy.
• The etiology and full spectrum of GAPO syndrome are not completely understood.
• Partially empty sella is a condition where the pituitary gland does not fill the sella turcica completely.

Observation:

• This report details the first documented cases of GAPO syndrome in two brothers.
• Both affected brothers presented with the classic features of GAPO syndrome.
• Radiographic imaging revealed a partially empty sella in both individuals.

Findings:

• The co-occurrence of GAPO syndrome and partially empty sella in siblings is reported for the first time.
• This finding suggests a potential link or shared pathophysiology between GAPO syndrome and sellar abnormalities.
• The presence of partially empty sella may indicate pituitary dysfunction in affected individuals.

Implications:

• Radiographic evaluation of the sella turcica should be considered in the diagnostic workup of children with GAPO syndrome.
• Regular endocrinological follow-up is recommended for children diagnosed with GAPO syndrome to monitor for pituitary function.
• Further research is warranted to elucidate the relationship between GAPO syndrome and sellar anomalies.