Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Por:
Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders
Publicada:
1 ene 2021
Ahead of Print:
1 ene 2021
Resumen:
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.
hybrid, Green Published
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