Detail
Článek
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

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....

. 2021 ; 44 (4) : 1070-1082. [pub] 20210128

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22012366

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

Child Neurology and Developmental Pediatrics 1st Department of Pediatrics Aristotle University of Thessaloniki Thessaloniki Greece

Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet Oslo Norway

Department of Child Neurology and Metabolic Disorders University Children's Hospital Heidelberg Germany

Department of Human Neuroscience Sapienza University of Rome Rome Italy

Department of Neurology Neurometabolic Unit and Synaptic Metabolism Laboratory Hospital Sant Joan de Déu Esplugues de Llobregat Barcelona Spain

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 and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Department of Pediatrics UKE Hamburg

Division of Clinical and Metabolic Genetics Department of Pediatrics University of Toronto The Hospital for Sick Children Toronto Ontario Canada

Faculty of Medicine Department of Pediatrics Section of Metabolism Hacettepe University Ankara Turkey

IMIB Arrixaca Murcia CIBERER ISCIII Madrid Spain

Inborn Errors of Metabolism Unit Department of Neurology Institut de Recerca Sant Joan de Déu and CIBERER ISCIII Barcelona Spain

Pediatric Neurology Unit Department of Pediatrics University Hospital Reina Sofía IMIBIC and CIBERER Córdoba Spain

Rady Children's Hospital Division of Neurology Rady Children's Institute for Genomic Medicine San Diego California USA

Service of Psychiatry Hospital Benito Menni Hospital General de Granollers Barcelona Spain

UCSD Departments of Neuroscience and Pediatrics

Unit of Child Neurology and Psychiatry Department of Human Neuroscience Sapienza University of Rome Rome Italy

Unit of Pediatric Neurology and Metabolic Disorders Department of Pediatrics Hospital Germans Trias i Pujol and Faculty of Medicine Universitat Autònoma de Barcelona Barcelona Spain

Universitat de Barcelona Barcelona Spain

University of British Columbia Department of Pediatrics Division of Biochemical Genetics BC Children's Hospital Vancouver British Columbia Canada

000      
00000naa a2200000 a 4500
001      
bmc22012366
003      
CZ-PrNML
005      
20240627091521.0
007      
ta
008      
220425s2021 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1002/jimd.12360 $2 doi
035    __
$a (PubMed)33443316
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Kuseyri Hübschmann, Oya $u Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany
245    10
$a Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients / $c 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. Gómez-Alemany, P. de Castro, C. Alfonsi, DI. Zafeiriou, E. López-Laso, P. Guder, R. Santer, T. Honzík, GF. Hoffmann, SF. Garbade, HS. Sivri, V. Leuzzi, K. Jeltsch, A. García-Cazorla, T. Opladen, International Working Group on Neurotransmitter Related Disorders (iNTD), I. Harting
520    9_
$a 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.
650    _2
$a mladiství $7 D000293
650    _2
$a dospělí $7 D000328
650    _2
$a vrozené poruchy metabolismu aminokyselin $x diagnostické zobrazování $x patologie $7 D000592
650    _2
$a mozek $x diagnostické zobrazování $x patologie $7 D001921
650    _2
$a mapování mozku $x metody $7 D001931
650    _2
$a dítě $7 D002648
650    _2
$a předškolní dítě $7 D002675
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a lidé $7 D006801
650    _2
$a kojenec $7 D007223
650    12
$a magnetická rezonanční tomografie $7 D008279
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a retrospektivní studie $7 D012189
650    _2
$a mladý dospělý $7 D055815
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Mohr, Alexander $u Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany
700    1_
$a Friedman, Jennifer $u UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California, USA
700    1_
$a Manti, Filippo $u Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy
700    1_
$a Horvath, Gabriella $u University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada
700    1_
$a Cortès-Saladelafont, Elisenda $u Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain $u Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain
700    1_
$a Mercimek-Andrews, Saadet $u Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
700    1_
$a Yildiz, Yilmaz $u Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Hacettepe University, Ankara, Turkey
700    1_
$a Pons, Roser $u First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece
700    1_
$a Kulhánek, Jan $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic $7 xx0319239
700    1_
$a Oppebøen, Mari $u Children's Department, Division of Child Neurology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
700    1_
$a Koht, Jeanette Aimee $u Department of Neurology, Oslo University Hospital, Oslo, Norway
700    1_
$a Podzamczer-Valls, Inés $u Department of Neurology, Neurometabolic Unit, and Synaptic Metabolism Laboratory, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain $u Universitat de Barcelona, Barcelona, Spain
700    1_
$a Domingo-Jimenez, Rosario $u Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain $u IMIB-Arrixaca, Murcia, CIBERER-ISCIII, Madrid, Spain
700    1_
$a Ibáñez, Salvador $u Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain
700    1_
$a Alcoverro-Fortuny, Oscar $u Service of Psychiatry, Hospital Benito Menni - Hospital General de Granollers, Barcelona, Spain
700    1_
$a Gómez-Alemany, Teresa $u Service of Psychiatry, Hospital Benito Menni - Hospital General de Granollers, Barcelona, Spain
700    1_
$a de Castro, Pedro $u Department of Pediatric Neurology, Hospital Gregorio Marañón, Madrid, Spain
700    1_
$a Alfonsi, Chiara $u Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain $u Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy
700    1_
$a Zafeiriou, Dimitrios I $u Child Neurology and Developmental Pediatrics, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece
700    1_
$a López-Laso, Eduardo $u Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain
700    1_
$a Guder, Philipp $u Department of Pediatrics, UKE, Hamburg
700    1_
$a Santer, René $u Department of Pediatrics, UKE, Hamburg
700    1_
$a Honzík, Tomáš $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
700    1_
$a Hoffmann, Georg F $u Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany
700    1_
$a Garbade, Sven F $u Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany
700    1_
$a Sivri, H Serap $u Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Hacettepe University, Ankara, Turkey
700    1_
$a Leuzzi, Vincenzo $u Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy
700    1_
$a Jeltsch, Kathrin $u Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany
700    1_
$a García-Cazorla, Angeles $u Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain
700    1_
$a Opladen, Thomas $u Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany
700    1_
$a Harting, Inga $u Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany $1 https://orcid.org/0000000257348548
710    2_
$a International Working Group on Neurotransmitter Related Disorders (iNTD)
773    0_
$w MED00002747 $t Journal of inherited metabolic disease $x 1573-2665 $g Roč. 44, č. 4 (2021), s. 1070-1082
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33443316 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20220425 $b ABA008
991    __
$a 20240627091515 $b ABA008
999    __
$a ok $b bmc $g 1789802 $s 1163567
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2021 $b 44 $c 4 $d 1070-1082 $e 20210128 $i 1573-2665 $m Journal of inherited metabolic disease $n J Inherit Metab Dis $x MED00002747
LZP    __
$a Pubmed-20220425

Najít záznam

Citační ukazatele

Možnosti archivace