Evidence map›Paper›PMID 40161923›Full record

ArticleMolecular genetics and metabolism reports2025

An 18-month-old girl with Vici syndrome: A case report study.

Parsa Forouhar, Mohammad Amin Eghtedari, Maryam Taraz, Mahsa Abdullahpour, Mohammad Mehrpouyan, Zhale Askarzade

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. 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

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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.

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.

Parsa ForouharResearch Committee, Dezful University of Medical Sciences, Dezful, Iran.
Mohammad Amin EghtedariResearch Committee, Dezful University of Medical Sciences, Dezful, Iran.
Maryam TarazMedical Faculty, Dezful University of Medical Sciences, Dezful, Iran.
Mahsa AbdullahpourMedical Faculty, Dezful University of Medical Sciences, Dezful, Iran.
Mohammad MehrpouyanAhvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Zhale AskarzadeResearch Committee, Dezful University of Medical Sciences, Dezful, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report an 18-month-old female diagnosed with Vici syndrome, a rare congenital disorder characterized by developmental delay, albinism, cataracts, agenesis of the corpus callosum, hypotonia, and immunological anomalies. The patient, the second child of healthy first-cousin parents, presented with hypotonia at birth and subsequently developed bilateral cataracts, feeding difficulties, and multiple systemic manifestations, including kidney, bladder, and gallstones, as well as cardiomegaly and seizures. Genetic testing identified homozygous mutations in the EPG5 gene, confirming the diagnosis of Vici syndrome. The cardiac evaluation revealed a unique finding: serial echocardiograms initially detected multiple masses, which later regressed spontaneously, suggestive of a cardiac rhabdomyoma.

Indexed as

AlbinismBilateral cataractsCardiac rhabdomyomacorpus callosumPediatricSeizuresVici syndrome

Identifiers

PMID40161923
PMCPMC11954115

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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.