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MELAS masquerading as a systemic vasculitis
Carroll MB.. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2007-12-01
Topic: Brain proteins, microglia and lab models
Mitochondrial encephalomyopathy, lactic acidosis, and stroke (MELAS) is a mitochondrial genetic disorder caused by a point mutation, resulting in the substitution of guanine for adenine at nucleotide 3243 (A3243G). It is a multisystem disorder with variable manifestations and typically presents between the first and third decades of life. It should be suspected if a patient exhibits stroke-like episodes before age 40, encephalopathy characterized by seizures, dementia, or both, and lactic acidosis, ragged-red fibers in muscle, or both. We present the case of a 26-year-old white man suspected with primary central nervous system vasculitis admitted to our facility with profound constipation from severe intestinal dysmotility. Although his gastrointestinal and neurologic symptoms did not meet criteria for a specific vasculitic syndrome, his symptoms and blood test abnormalities were concerning for such a process. MELAS was included in our differential diagnosis because his symptoms failed to fit a defined vasculitic process. When genetic testing documented the presence of the point mutation A3243G, his diagnosis was changed. This case illustrates the importance of considering a mitochondrial genetic disorder in the differential diagnosis of patients who present to Rheumatologists with suspected unusual or atypical vasculitic symptoms.
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APA 7th
Carroll, M. B. (2007). MELAS masquerading as a systemic vasculitis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. https://doi.org/10.1097/rhu.0b013e31815c2516
Vancouver
Carroll MB. MELAS masquerading as a systemic vasculitis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2007. doi:10.1097/rhu.0b013e31815c2516. PMID: 18176143.
BibTeX
@article{carroll2007-18176143,
author = {Carroll, M. B.},
title = {{MELAS masquerading as a systemic vasculitis}},
journal = {Journal of clinical rheumatology : practical reports on rheumatic \& musculoskeletal diseases},
year = {2007},
doi = {10.1097/rhu.0b013e31815c2516},
pmid = {18176143},
url = {https://doi.org/10.1097/rhu.0b013e31815c2516}
}
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Key findings
- We present the case of a 26-year-old white man suspected with primary central nervous system vasculitis admitted to our facility with profound constipation from severe intestinal dysmotility.
- Although his gastrointestinal and neurologic symptoms did not meet criteria for a specific vasculitic syndrome, his symptoms and blood test abnormalities were concerning for such a process.
- MELAS was included in our differential diagnosis because his symptoms failed to fit a defined vasculitic process.
- When genetic testing documented the presence of the point mutation A3243G, his diagnosis was changed.
- This case illustrates the importance of considering a mitochondrial genetic disorder in the differential diagnosis of patients who present to Rheumatologists with suspected unusual or atypical vasculitic symptoms.
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Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 24 of the 58 points we could judge it on, which is 41 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2007 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 18176143) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 24 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 24 of the 58 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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