Evidence map›Paper›PMID 32194620›Full record

ArticleFrontiers in genetics2020

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to

Wei-Xing Feng, Xin-Ying Yang, Jiu-Wei Li, Shuai Gong, Yun Wu, Wei-Hua Zhang, Tong-Li Han, Xiu-Wei Zhuo, Chang-Hong Ding, Fang Fang

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

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.5field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 20 citations in OpenAlex.

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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

10 authors at 2 institutions in 1 country.

Wei-Xing FengNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Xin-Ying YangNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Jiu-Wei LiNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Shuai GongNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Yun WuNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Wei-Hua ZhangNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Tong-Li HanNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Xiu-Wei ZhuoNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Chang-Hong DingNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Fang FangNeurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.
Capital Medical University · CNBeijing Children’s Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hemophagocytic lymphohistiocytosis Type 2 (FHL2) associated central nervous system (CNS) involvement is less understood in children, especially when considering neurologic manifestations as part of the initial presentation. We conducted a retrospective review of the clinical manifestations and genetic abnormality of four Han Chinese children with FHL2 who were patients at the neurology department of Beijing Children's Hospital from November 2015 to October 2018. These four patients initially manifested CNS symptoms in their disease presentation, and all four patients were misdiagnosed as having ademyelinating disease, such as acute disseminated encephalomyelitis and multiple sclerosis. Given these misdiagnoses, it is important that general physicians and pediatricians maintain awareness of the possibility of FHL2 as a differential diagnosis. These four cases included neurologic manifestations including seizures, ataxia, spasticity, gait disorder, and coma. Bilateral abnormal signals in the cerebrum, including in white matter, gray matter, and junctions were discovered. Enhanced magnetic resonance imaging (MRI) in these patients showed spot or ring enhancement and/or hemorrhage. These patients all possessed a compound heterozygote mutation

Indexed as

familial hemophagocytic lymphohistiocytosis Type-2mutationneurological manifestationspediatric patientsperforin 1

Identifiers

PMID32194620
PMCPMC7064636
OpenAlexW3009233541

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.