RT Journal Article
T1 Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
A1 Kuseyri Hübschmann, Oya
A1 Mohr, Alexander
A1 Friedman, Jennifer
A1 Manti, Filippo
A1 Horvath, Gabriella
A1 Cortes-Saladelafont, Elisenda
A1 Mercimek-Andrews, Saadet
A1 Yildiz, Yilmaz
A1 Pons, Roser
A1 Kulhanek, Jan
A1 Oppebøen, Mari
A1 Koht, Jeanette Aimee
A1 Podzamczer-Valls, Ines
A1 Domingo-Jimenez, Rosario
A1 Ibañez, Salvador
A1 Alcoverro-Fortuny, Oscar
A1 Gomez-Alemany, Teresa
A1 de Castro, Pedro
A1 Alfonsi, Chiara
A1 Zafeiriou, Dimitrios I
A1 Lopez-Laso, Eduardo
A1 Guder, Philipp
A1 Santer, Rene
A1 Honzik, Tomaš
A1 Hoffmann, Georg F
A1 Garbade, Sven F
A1 Sivri, H Serap
A1 Leuzzi, Vincenzo
A1 Jeltsch, Kathrin
A1 Garcia-Cazorla, Angeles
A1 Opladen, Thomas
A1 Harting, Inga
K1 MRI
K1 Inherited neurotransmitter disorders
K1 Monoamines
K1 Tetrahydrobiopterin deficiency
K1 Watershed injury
AB 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.
PB John Wiley & Sons
YR 2021
FD 2021-01-11
LK http://hdl.handle.net/10668/16969
UL http://hdl.handle.net/10668/16969
LA en
NO Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, et al. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. J Inherit Metab Dis. 2021 Jul;44(4):1070-1082
DS RISalud
RD Apr 7, 2025