Psychiatric Disorder in a Patient With Beckwith-Wiedemann Syndrome: A Case Report

Area of Science:

• Endocrinology
• Psychiatry
• Genetics

Background:

• Beckwith-Wiedemann syndrome (BWS) is associated with endocrine disorders like pheochromocytoma and hypoglycaemia.
• Patients with BWS are vulnerable to hypothalamic-pituitary-adrenal (HPA) axis dysfunction, potentially leading to psychiatric conditions.
• Early and recurrent surgeries in BWS patients can impact neurodevelopment and psychological well-being.

Observation:

• A 23-year-old woman with BWS presented with a history of multiple surgeries (pancreatectomy, adrenalectomy, osteotomy, paraganglioma resection) from a young age.
• She experienced parental neglect and an abusive childhood environment.
• The patient was diagnosed with borderline personality disorder, major depressive disorder, trauma-related disorders, cannabis use disorder, and cannabis-induced psychotic symptoms.

Findings:

• The case illustrates significant overlap between physical conditions in BWS (pheochromocytoma) and symptoms of anxiety disorders.
• Childhood adversity and neglect exacerbated the patient's vulnerability to mental health issues.
• Medical comorbidities in BWS can significantly contribute to the development and presentation of severe psychiatric disorders.

Implications:

• This case underscores the critical need for comprehensive, integrated care addressing both the physical and psychological needs of BWS patients.
• Recognizing the interplay between BWS, medical history, and environmental factors is crucial for accurate diagnosis and effective treatment of psychiatric comorbidities.
• Further research into the long-term psychological impact of BWS and its associated treatments is warranted.