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Magnetic resonance imaging features and neurodevelopmental prognosis in infants diagnosed with organic acidaemia
Rui Zhang1, Xinlin Hou1, Nana Liu1
1Children's Medical Center, Peking University First Hospital, Beijing, China.
Insights
Magnetic resonance imaging (MRI) patterns are crucial for diagnosing organic acidaemias in infants. Brainstem lesions on MRI may indicate a poor neurodevelopmental outcome in affected children.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Neuroimaging
Background:
- Organic acidaemias are a group of inherited metabolic disorders affecting amino acid metabolism.
- Early diagnosis and understanding of neurodevelopmental outcomes are critical for managing affected infants.
Purpose of the Study:
- To retrospectively analyze clinical features, MRI findings, and neurodevelopmental outcomes in infants with organic acidaemia.
- To identify potential imaging biomarkers for prognosis in this population.
Main Methods:
- Observational retrospective study including infants diagnosed with organic acidaemia before age one.
- Cranial MRI data and clinical information were collected from 2010-2020.
- Neurodevelopmental outcomes were assessed to classify prognoses.
Main Results:
- Sixty-five infants were included; methylmalonic acidaemia with homocysteinaemia was most common.
- Specific MRI findings varied by organic acidaemia type (e.g., thalamic/basal ganglia lesions in propionic acidaemia).
- 68% of children with available data had severe neurodevelopmental impairments; brainstem lesions were linked to poor outcomes.
Conclusions:
- MRI findings are vital for diagnosing and predicting outcomes in infant organic acidaemias.
- Brainstem lesions identified on MRI may serve as an independent risk factor for severe neurodevelopmental impairment.
Aim:
To retrospectively examine the clinical characteristics, magnetic resonance imaging (MRI) findings, and neurodevelopmental outcomes of infants diagnosed with an organic acidaemia during their first year of life.
Method:
This was an observational retrospective study. Infants who were diagnosed with an organic acidaemia before the age of 1 year and underwent cranial MRI at Peking University First Hospital between 2010 and 2020 were included. Clinical and MRI data were collected, and prognoses were classified based on developmental assessments.
Results:
Sixty-five children were included, with methylmalonic acidaemia combined with homocysteinaemia being the most prevalent type (40 of 65). Median age at onset was 2 months. Hydrocephalus was observed in 43% of children with methylmalonic acidaemia combined with homocysteinaemia, while thalamic and basal ganglia lesions were prominent in 83% of children with propionic acidaemia. All cases of glutaric aciduria type 1 exhibited extracerebral space widening. MRI findings were normal in eight children. Among the 47 children with available developmental data, 68% experienced severe neurodevelopmental impairments. Brainstem lesions may represent an independent risk factor for severe outcomes (odds ratio = 9.059, 95% confidence interval = 1.039-79.014, p = 0.046).
Interpretation:
MRI patterns are essential in the diagnosis and prognostication of organic acidaemias, with brainstem lesions serving as a potential indicator of prognosis.
