Evidence map›Paper›PMID 31965290›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2020

Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report.

C de Laurentis, S Gasperini, G Chiarello, S Motta, F Canonico, C G Giussani

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In one paragraph

Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2020. 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
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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, 1 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 3 institutions in 1 country.

C de LaurentisNeurosurgery, Università degli Studi di Milano Bicocca, School of Medicine, Monza, Italy.
S GasperiniMetabolic Rare Diseases Unit (Pediatric Department), Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.
G ChiarelloNeuropathology, Ospedale San Gerardo, Monza, Italy.
S MottaMetabolic Rare Diseases Unit (Pediatric Department), Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.
F CanonicoNeuroradiology, Ospedale San Gerardo, Monza, Italy.
C G GiussaniNeurosurgery, Università degli Studi di Milano Bicocca, School of Medicine, Monza, Italy. carlo.giussani@unimib.it.
Azienda Ospedaliera San Gerardo · ITFondazione Lanza · ITUniversity of Milano-Bicocca · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMucopolysaccharidosis (MPS) IIIB is a lysosomal disorder in which a deficiency in α-N-acetylglucosaminidase impairs the degradation of heparan sulphate, which accumulates in tissues causing multiple organs dysfunction. This disease is associated with significant central nervous system (CNS) abnormalities, but a presentation with a tumour-like lesion has never been reported so far. CLINICAL PRESENTATION: The present report describes the case of a 5-year-old girl suffering from MPS IIIB who developed a cerebellar lesion with evident mass effect. She underwent surgery with a subsequent notable improvement of her clinical picture. Surprisingly, the pathological analysis revealed the lesion to have the typical MPS features.

conclusionThis case would describe a neglected possible presentation of MPS IIIB with a lesion mimicking a neoplasm, which could even be successfully treated with surgery.

Indexed as

Cerebellar NeoplasmsMucopolysaccharidosesMucopolysaccharidosis IIIChild, PreschoolFemaleGlycosaminoglycansHumansLysosomesGlycosaminoglycansCerebellumCNSMucopolysaccharidosisNeuropathologyNeurosurgerySanfilippo diseaseTumour-like

Identifiers

PMID31965290
OpenAlexW3002997377

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.