Evidence map›Paper›PMID 33404715›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2021

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

Lissa C Goulart, Luiz A Ferreira-Filho, Mariana M da Silva, Israel S B Carneiro, Siderley S Carneiro, Osvaldo Vilela-Filho

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 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
0.3field-weighted citation impact, top 35% 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, 2 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.

Lissa C GoulartDivision of Neurosurgery, Department of Surgery, Medical School, Federal University of Goiás, 1a Avenida, S/N - Setor Leste Universitário, Goiânia, Goiás, Brazil.
Luiz A Ferreira-FilhoDepartment of Radiology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil.
Mariana M da SilvaDepartment of Radiology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil.
Israel S B CarneiroDepartment of Radiology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil.
Siderley S CarneiroDepartment of Pathology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil.
Osvaldo Vilela-FilhoDivision of Neurosurgery, Department of Surgery, Medical School, Federal University of Goiás, 1a Avenida, S/N - Setor Leste Universitário, Goiânia, Goiás, Brazil. ovilelafilho@clanfer.com.
Universidade Federal de Goiás · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionTectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and cerebellum malformations, markedly lack fiber decussation at the level of the pontomesencephalic junction. CASE REPORT: We report the case of a child who was born term with occipital encephalocele (OE), diagnosed with TCD and JS spectrum through computed tomography (CT), magnetic resonance (MR), diffuse tensor imaging (DTI), and clinical findings. She had the OE surgically corrected after spontaneous rupture on the second day after delivery. She developed postoperative ventriculitis, meningitis, and hydrocephalus, successfully treated with intravenous antibiotics and cysto-ventriculostomy, cysto-cisternostomy, third ventriculostomy, and choroid plexus coagulation. G-band karyotyping showed 47, XXX, in all analyzed cells (trisomy X). The infant was followed up for 18 months, presenting, so far, a relatively good outcome.

conclusionThis is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).

Indexed as

EncephaloceleKidney Diseases, CysticCerebellumChromosomes, Human, XFemaleHumansMagnetic Resonance ImagingSex Chromosome AberrationsSex Chromosome Disorders of Sex DevelopmentTrisomyJoubert syndromeOccipital encephaloceleTectocerebellar dysraphiaTrisomy X

Identifiers

PMID33404715
OpenAlexW3119858513

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.