A Case of late onset DDX3X syndrome presenting as leukodystrophy with progressive multiple sclerosis feature

Key Points

• Late onset DDX3X syndrome presents with symptoms resembling leukodystrophy and multiple sclerosis features, prompting further investigation.
• The observed case included significant neurological decline and atypical manifestations, complicating the diagnosis of the condition.
• Comprehensive genetic testing is crucial in revealing underlying genetic mutations linked to neurodevelopmental disorders.
• This case underscores the importance of thorough clinical assessment in diagnosing rare genetic syndromes with complex presentations.