Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.

Yazan O Al Zu'bi, Ahmed H Al Sharie, Waed Dwairi, Eyad Altamimi

Open access · goldAbstract readCase Reports

In one paragraph

Article in Radiology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

0.2field-weighted citation impact, top 54% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.Global pediatric health · 2024
Article

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

4 authors at 1 institution in 1 country.

Yazan O Al Zu'biFaculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.

Ahmed H Al SharieFaculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.

Waed DwairiPediatric Department, Faculty of Medicine, Jordan University of Science and Technology, P.O. Box. 3030, Irbid 22110, Jordan.

Eyad AltamimiPediatric Department, Faculty of Medicine, Jordan University of Science and Technology, P.O. Box. 3030, Irbid 22110, Jordan.

Jordan University of Science and Technology · JO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carbonic anhydrase II deficiency is a rare autosomal recessive disorder with a classical triad of renal tubular acidosis, intracerebral calcifications and osteopetrosis. We present a case of a 6-year and 4-months old male patient presented to our pediatric gastroenterology outpatients' clinic with parental concern of poor growth. The patient is a known case of unexplained global developmental delay, recurrent fractures and constipation since birth. As a result of the patient's hyperactivity, he hit his head with the clinic's door resulting in a cut wound. Brain computed tomography scan showed abnormal symmetrical calcifications seen in both basal ganglia, thalami and subcortical white matter associated with increased bone density of the skull and upper cervical spine reassembling osteopetrosis. The suspicion of carbonic anhydrase II deficiency was confirmed by arterial blood gases revealing a marked metabolic acidosis fulfilling the diagnostic triad. The patient was discharged on sodium bicarbonate therapy, lactulose and vitamin D

Indexed as

CA IICarbonic anhydrase II deficiencyIntracerebral calcificationsOsteopetrosisRenal tubular acidosis

Identifiers

PMID35035649

DOI10.1016/j.radcr.2021.12.004

PMCPMC8753056

OpenAlexW4205865946

What OpenQuestion holds

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LicenceCC BY

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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.