This website is organized and funded by PTC Therapeutics AB Sweden for healthcare professionals residing in the Nordics and BeNeLux region.

Patient profiles

Select a patient profile to review

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 clonazepam, 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

Metabolites Results
3-OMD 1439 nmol/LHigh
5-HIAA 9 nmol/L Low
HVA14 nmol/L Low
PterinsNormalNormal
3-OMD, 3-O-methyldopa; 5-HIAA, 5-hydroxyindoleacetic acid; CSF, cerebrospinal fluid; HVA, homovanillic acid.

REGISTER NOW: Access exclusive expert-led educational content

  1. Swoboda KJ, et al. Neurology. 1999;53(6):1205–1211.
  2. Anselm IA, Darras BT. Pediatr Neurol. 2006;35(2):142–144.

 

SE-AADC-0232 | March 2022

Welcome to AADC Awareness

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors