Malignant catatonia in an adolescent with pogo transposable element derived with zinc finger domain (POGZ) gene mutation: case report.

Abstract

Background: Malignant catatonia represents a severe and life-threatening neuropsychiatric syndrome that demands prompt recognition and intervention. This condition poses particular diagnostic and management challenges in adolescents, especially when genetic predispositions and neurodevelopmental vulnerabilities complicate the clinical picture.

Aims: This report examines a complex case of malignant catatonia in a 17-year-old female with developmental delay but no prior psychiatric diagnoses, who developed severe cognitive and behavioural deterioration. We explore the diagnostic complexities, therapeutic challenges and potential genetic contributions to her presentation.

Method: We present a comprehensive case analysis documenting clinical progression, treatment responses and genetic findings through whole-exome sequencing. The patient's journey spans from initial presentation to long-term follow-up, with systematic assessment using standardised catatonia rating scales.

Results: The patient's condition manifested as severe psychomotor impairment, mutism and autonomic instability, showing minimal response to initial treatment. Electroconvulsive therapy yielded significant but temporary amelioration of symptoms. Genetic analysis revealed a heterozygous mutation in the pogo transposable element derived with zinc finger domain (POGZ) gene - a gene implicated in neurodevelopmental disorders - suggesting this variant contributed to her neurobiological vulnerability. Concurrent features of functional neurological disorder further compounded the diagnostic complexity, illustrating the intricate interplay between genetic susceptibility and clinical presentation.

Conclusions: This case illuminates the challenges clinicians face when diagnosing and treating complex neuropsychiatric presentations in adolescents, particularly when genetic predispositions intersect with functional neurological symptoms. The findings emphasise how comprehensive, multidisciplinary approaches remain essential for optimal patient care. Moreover, this case highlights the selective utility of genetic investigation in elucidating potential underpinnings of complex, treatment-resistant malignant catatonia, whilst demonstrating that genetic variants may confer vulnerability rather than direct causation.