Journal Article

Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation

Monteil, Danielle, Fakhori, Nina, Freeman, Meagan

2024

Overview

We present an infant referred to Developmental Paediatrics for delays, slow growth, hypotonia, esotropia and spasticity. Over the course of 2 months, the infant’s exam progressed, demonstrating worsening spasticity and tonal changes in the setting of a normal brain MRI with acquired microcephaly. Genetic testing demonstrated a pathogenic CTNNB1 nonsense mutation. Following the discovery of the underlying cause for the child’s clinical picture, the child was evaluated by therapeutic services and neurology, which was initially only available via asynchronous telehealth, due to a resource limited area. Cerebral palsy is a nonprogressive neurodevelopmental disorder and, when associated with developmental delay, qualifies for further genetic investigation into the underlying aetiology. Genetic testing recommendations exist for developmental delay, but there is no current algorithm regarding testing for cerebral palsy. Education and clear guidelines on genetic testing allow for better prognostication and potential treatment in cases of cerebral palsy, especially when associated with other disorders.

• Publisher: BMJ Publishing Group Ltd,BMJ Publishing Group LTD
• Subject: Autism / beta Catenin - genetics / Case reports / Cerebral palsy / Cerebral Palsy - genetics / Child development / Codon, Nonsense / Developmental Disabilities - genetics / Developmental paediatrocs / Failure to thrive / Families & family life / Female / Gene therapy / Genetic disorders / Genetic Testing / Genetics / Humans / Infant / Intellectual disabilities / Magnetic Resonance Imaging / Male / Metabolism / Milk / Morphology / Motor ability / Muscle Spasticity - diagnosis / Muscle Spasticity - genetics / Mutation / Neurodevelopmental disorders / Neurology / Pediatrics / Physical therapy / Proteins / Skills / Spasticity