Evidence map›Paper›PMID 35625000›Full record

ArticleBrain sciences2022

Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report.

Emilia Matera, Maria Giuseppina Petruzzelli, Martina Tarantini, Alessandra Gabellone, Lucia Marzulli, Romina Ficarella, Paola Orsini, Lucia Margari

Open access · goldAbstract readCase Reports
In one paragraph

Article in Brain sciences, 2022. 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 45% 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, 4 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

8 authors.

Emilia MateraDepartment of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.ORCID 0000-0002-7541-0616
Maria Giuseppina PetruzzelliDepartment of Basic Medical Sciences, Neuroscience and Sensory Organs, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.ORCID 0000-0003-1734-788X
Martina TarantiniDepartment of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.
Alessandra GabelloneDepartment of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.ORCID 0000-0002-6808-4883
Lucia MarzulliDepartment of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.ORCID 0000-0002-7448-1017
Romina FicarellaMedical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, Italy.
Paola OrsiniMedical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, Italy.
Lucia MargariDepartment of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.ORCID 0000-0002-9203-3373

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disease characterized by the absence of horizontal gaze movements, progressive scoliosis, and typical brain, cerebellum, and medullary malformations. Here we describe a pediatric HGPPS case with overlapping epilepsy and learning difficulties. A 6-year-old girl was admitted to the University Hospital of Bari for the onset of a tonic-clonic seizure. Electroencephalogram showed slow and sharp waves on the right side with the tendency to diffuse. Brain magnetic resonance imaging demonstrated malformations compatible with HGPPS. Ophthalmological and orthopedic evaluations confirmed conjugate horizontal gaze palsy and mild thoracolumbar scoliosis. Neuropsychological assessment attested normal intelligence but serious difficulties in reading and writing. In spite of neuroradiological malformations, visual difficulties, and spinal deformities, literature data are limited about any coexisting neurocognitive HGPPS symptoms. Literature data regarding such topics are very limited. If, on the one hand, the coexistence of such symptoms can be interpreted as occasional, it could support the idea that they could fall within a spectrum of HGPPS anomalies. In addition to the standard investigations, the activation of specific neuropsychological assessment programs could help interventions improve the specialist care and the quality of life of HGPPS patients.

Indexed as

epilepsyHGPPSlearning difficulties

Identifiers

PMID35625000
PMCPMC9139940
OpenAlexW4229334123

What OpenQuestion holds

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LicenceCC BY
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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.