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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
O. Kuseyri Hübschmann, A. Mohr, J. Friedman, F. Manti, G. Horvath, E. Cortès-Saladelafont, S. Mercimek-Andrews, Y. Yildiz, R. Pons, J. Kulhánek, M. Oppebøen, JA. Koht, I. Podzamczer-Valls, R. Domingo-Jimenez, S. Ibáñez, O. Alcoverro-Fortuny, T....
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
33443316
DOI
10.1002/jimd.12360
Knihovny.cz E-resources
- MeSH
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging * MeSH
- Brain Mapping methods MeSH
- Adolescent MeSH
- Young Adult MeSH
- Brain diagnostic imaging pathology MeSH
- Child, Preschool MeSH
- Retrospective Studies MeSH
- Amino Acid Metabolism, Inborn Errors diagnostic imaging pathology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs. 81 MRIs of 70 patients (0.1-52.9 years, 39 patients with tetrahydrobiopterin deficiencies, 31 with primary disorders of monoamine metabolism) were retrospectively analyzed and clinical records reviewed. 33/70 patients had MRI changes, most commonly atrophy (n = 24). Eight patients, six with dihydropteridine reductase deficiency (DHPR), had a common pattern of bilateral parieto-occipital and to a lesser extent frontal and/or cerebellar changes in arterial watershed zones. Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic l-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). Four patients had myelination delay (AADCD; THD); two had changes characteristic of post-infantile onset neuronal disease (AADCD, monoamine oxidase A deficiency), and nine T2-hyperintensity of central tegmental tracts. iMNDs are associated with MRI patterns consistent with chronic effects of a neuronal disorder and signs of repetitive injury to cerebral and cerebellar watershed areas, in particular in DHPRD. These will be helpful in the (neuroradiological) differential diagnosis of children with unknown disorders and monitoring of iMNDs. We hypothesize that deficiency of catecholamines and/or tetrahydrobiopterin increase the incidence of and the CNS susceptibility to vascular dysfunction.
1st Department of Pediatrics of the University of Athens Aghia Sofia Hospital Athens Greece
Department of Human Neuroscience Sapienza University of Rome Rome Italy
Department of Neurology Oslo University Hospital Oslo Norway
Department of Neuroradiology University Hospital Heidelberg Heidelberg Germany
Department of Pediatric Neurology Hospital Gregorio Marañón Madrid Spain
Department of Pediatric Neurology Hospital Virgen de la Arrixaca Murcia Madrid Spain
Department of Pediatrics UKE Hamburg
IMIB Arrixaca Murcia CIBERER ISCIII Madrid Spain
Service of Psychiatry Hospital Benito Menni Hospital General de Granollers Barcelona Spain
UCSD Departments of Neuroscience and Pediatrics
References provided by Crossref.org
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