Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation.
BMJ Case Rep
; 17(6)2024 Jun 13.
Article
in En
| MEDLINE
| ID: mdl-38871641
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cerebral Palsy
/
Developmental Disabilities
/
Beta Catenin
/
Muscle Spasticity
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
BMJ Case Rep
Year:
2024
Document type:
Article
Affiliation country:
Alemania