Prominent Self-Injurious Behavior Masking the Diagnosis of Rett Syndrome: A Case Report from a Resource-Limited Setting.

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder characterized by developmental regression, loss of purposeful hand use, and stereotypic movements after apparently normal early development. We report a 26-month-old girl who presented with severe self-injurious behavior (SIB), including repetitive biting of the left forearm and head banging, associated with restlessness, frequent yelling, and poor sleep. Further evaluation revealed regression of motor, language, and hand skills with stereotypic hand wringing. Examination showed impaired social interaction, ataxic gait, and hypertrophic scars on the left forearm, while neurologic and systemic examinations were otherwise non-focal. Brain magnetic resonance imaging and electroencephalography were normal. In the absence of genetic testing, the diagnosis of RTT was established based on internationally accepted clinical diagnostic criteria. Parents were counseled for multidisciplinary care and followed up over a six-month period. This case highlights that prominent SIB may obscure the diagnosis of RTT and delay recognition, particularly in resource-limited settings where genetic testing is unavailable.