Fragile XE: an important differential diagnosis.

Area of Science:

• Genetics
• Neurology
• Medical Diagnostics

Background:

• Fragile X is a leading genetic cause of intellectual disability, primarily affecting males but also occurring in females.
• Fragile X E (FRAXE) is a less common variant associated with intellectual disability, behavioral issues, and epilepsy.
• Diagnostic delays can occur, underscoring the need for comprehensive genetic evaluation.

Purpose of the Study:

• To report a case of a 21-year-old female diagnosed with Fragile X E syndrome.
• To emphasize the clinical presentation of FRAXE in females, including learning difficulties, behavioral problems, and epilepsy.
• To highlight the significance of ongoing genetic testing and re-evaluation in diagnosing rare genetic disorders.

Main Methods:

• Clinical case presentation of a 21-year-old female.
• Review of diagnostic investigations spanning several years.
• Genetic testing analysis in the context of technological advancements.

Main Results:

• A definitive diagnosis of Fragile X E (FRAXE) syndrome was established in the patient.
• The patient presented with a constellation of symptoms including learning difficulty, behavioral problems, and epilepsy.
• The diagnostic process was lengthy, indicating potential challenges in identifying FRAXE.

Conclusions:

• Fragile X E syndrome should be considered in the differential diagnosis for females presenting with learning difficulties, behavioral issues, and epilepsy.
• Advances in genetic technology can facilitate the diagnosis of FRAXE, even years after initial investigations.
• Timely and comprehensive genetic assessment is crucial for accurate diagnosis and management of individuals with intellectual disability.