Patient profiles

Patient 1: 5-month-old female with developmental delay and dystonia

Not a real patient. Hypothetical profile based on actual patient findings.

History and presentation¹

• Began experiencing temperature instability and problems with breastfeeding immediately after birth
• Excessive irritability noted at 2.5 months, including being startled by noises and sudden movements
• Oculogyric crises that began at age 3 months, typically occurring in the late afternoon or evening; with increased frequency and severity over the following 2 to 5 months
• Axial hypotonia
• Right-sided head deviation
• Unable to reach for objects, roll over, or lift head while in prone position
• Ptosis, miosis, nasal congestion, drooling
• Treated with anti-epileptic medication, which was not effective in mitigating oculogyric crises

Imaging¹

• Brain MRI: normal

Laboratory findings¹

• Metabolic screening: normal
• Plasma AADC activity: undetectable

CSF neurotransmitter metabolite analysis

Patient 2: 17-year-old male with dystonia of unclear aetiology

Not a real patient. Hypothetical profile based on actual patient findings.

History and presentation²

• Initially diagnosed with cerebral palsy at age 6 months after presenting with feeding difficulty, hypotonia, and episodes of tongue thrusting and oculogyric crises
• Frequency and duration of episodes increased during adolescence, occurring every 2 days and lasting up to 8 hours
• Patient did not achieve any developmental milestones, remained nonverbal
• Temperature instability, hypotension
• Severe insomnia
• Previously treated with anti-epileptic medication, which led to increased frequency of oculogyric crises and dystonic symptoms

Laboratory findings^1,2

• Metabolic screening: normal
• Plasma AADC activity: undetectable

CSF neurotransmitter metabolite analysis