Evidence map›Paper›PMID 33773571›Full record

ArticleBMC pediatrics2021

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.

Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.8field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 6 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Monika Bekiesinska-FigatowskaDepartment of Diagnostic Imaging, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland. m.figatowska@mp.pl.ORCID 0000-0003-1787-3425
Marek DuczkowskiDepartment of Diagnostic Imaging, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland.ORCID 0000-0002-9985-836X
Agnieszka DuczkowskaDepartment of Diagnostic Imaging, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland.ORCID 0000-0002-5209-5334
Joanna TaybertDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
Amanda KrzywdzinskaDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.ORCID 0000-0002-7621-8378
Jolanta Sykut-CegielskaDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.ORCID 0000-0003-0762-3721
Mother and Child Foundation · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMost white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected T2-hyperintense cerebral white matter and are called "tigroid pattern" in the literature. The fornix is a tiny white matter fibers bundle playing crucial role in cognitive functioning, easily overlooked on magnetic resonance imaging and not described in inborn errors of metabolism. CASE PRESENTATION: We present a case of glutaric aciduria type 1 with a follow-up of over nine years. The course of the disease is presented in three magnetic resonance scans at the age of 8 and 21 months, and 10 years, with diffusion restriction in the fornix in scan 1 and 2 and with tigroid pattern in scan 3. Despite appropriate diet and supplementation, injury of white matter progressed achieving diffuse stage with tigroid pattern. Psychological tests revealed deficits in patient's specific cognitive skills, most likely related to damage to the fornix.

conclusionsTo our knowledge, this is the first report of tigroid pattern of white matter involvement in glutaric aciduria type 1 and the first report of forniceal injury in this disease which seems to be correlated with patient's low functioning in all kinds of memory skills, previously not reported in glutaric aciduria type 1.

Indexed as

GlutaratesLeukoencephalopathiesAmino Acid Metabolism, Inborn ErrorsBrainBrain Diseases, MetabolicGlutaryl-CoA DehydrogenaseHumansMagnetic Resonance ImagingGlutaratesGlutaryl-CoA DehydrogenaseCase reportChildForniceal injuryGlutaric aciduria type I (GA-1)Magnetic resonance imaging (MRI)Memory impairmentTigroid patternWhite matter

Identifiers

PMID33773571
PMCPMC8004449
OpenAlexW3139741556

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.