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MRI and (1)H-MRS in adenosine kinase deficiency
C Staufner1, H J Blom2, C Dionisi-Vici3
1Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Introduction:
Adenosine kinase deficiency (ADK deficiency) is a recently described disorder of methionine and adenosine metabolism resulting in a neurological phenotype with developmental delay, muscular hypotonia, and epilepsy as well as variable systemic manifestations. The underlying neuropathology is poorly understood. We have investigated MRI and (1)H-MRS changes in ADK deficiency in order to better understand the in vivo neuropathologic changes of ADK deficiency.
Methods:
Systematic evaluation of 21 MRIs from eight patients (age range 9 days-14.6 years, mean 3.9 years, median 2.7 years) including diffusion-weighted imaging in six and (1)H-MRS in five patients.
Results:
Brain maturation was delayed in the neonatal period and in infancy (6/6), but ultimately complete. White matter changes occurring in five of eight patients were discrete, periventricular, and unspecific (4/5), or diffuse with sparing of optic radiation, corona radiata, and pyramidal tracts (1/5). Choline was low in white matter spectra (3/3), while there was no indication of low creatine in white matter or basal ganglia (5/5), and diffusion was variably decreased or increased. Central tegmental tract hyperintensity was a common finding (6/8), as was supratentorial atrophy (6/8).
Conclusions:
MRI changes in ADK deficiency consist of delayed but ultimately completed brain maturation with later onset of mostly unspecific white matter changes and potentially transient central tegmental tract hyperintensity. Immaturity on neonatal MRI is consistent with prenatal onset of disease and reduced choline with lower membrane turnover resulting in delayed myelination and deficient myelin maintenance.
Insights
Adenosine kinase deficiency (ADK deficiency) causes delayed brain maturation and white matter changes. MRI reveals specific patterns, including central tegmental tract hyperintensity, aiding diagnosis.
Area of Science:
- Neurology
- Metabolic Disorders
- Neuroimaging
Background:
- Adenosine kinase deficiency (ADK deficiency) is a rare metabolic disorder affecting methionine and adenosine metabolism.
- It presents with a neurological phenotype including developmental delay, hypotonia, and epilepsy, alongside systemic issues.
- The precise neuropathology of ADK deficiency remains poorly understood.
Purpose of the Study:
- To investigate Magnetic Resonance Imaging (MRI) and proton Magnetic Resonance Spectroscopy ((1)H-MRS) findings in patients with ADK deficiency.
- To elucidate the in vivo neuropathologic changes associated with ADK deficiency.
Main Methods:
- Systematic evaluation of 21 MRIs from eight patients (age range: 9 days–14.6 years).
- Inclusion of diffusion-weighted imaging in six patients and (1)H-MRS in five patients.
- Analysis focused on brain maturation, white matter abnormalities, metabolite levels, and specific tract signal intensities.
Main Results:
- Delayed, yet ultimately complete, brain maturation was observed in neonatal and infant periods.
- White matter changes were noted in five patients, characterized by discrete, periventricular, unspecific patterns or diffuse changes.
- Common findings included central tegmental tract hyperintensity (6/8) and supratentorial atrophy (6/8).
- Reduced white matter choline (3/3) and variable diffusion changes were present; creatine levels were normal.
Conclusions:
- MRI findings in ADK deficiency include delayed brain maturation and subsequent unspecific white matter changes.
- Transient central tegmental tract hyperintensity may be a characteristic feature.
- Neonatal MRI immaturity suggests prenatal disease onset, with reduced choline indicating impaired myelination and myelin maintenance.
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