Two Cases of Menkes Disease with Similar MRI Findings
Author Information
Author(s): Muacevic Alexander, Adler John R, Katase Shichiro, Tsuchiya Kazuhiro, Habu Nanako, Hada Ichiro, Takahashi Shohei, Kurayama Ryota, Gomyo Miho, Watanabe Masanaka, Iwamoto Kaori, Yokoyama Kenichi
Primary Institution: Kyorin University, Faculty of Medicine, Tokyo, JPN
Hypothesis
Can MRI findings in children with Menkes disease assist in establishing a diagnosis?
Conclusion
The study suggests that MRI findings of intracranial arterial tortuosity can be indicative of Menkes disease.
Supporting Evidence
- Both cases exhibited low blood levels of ceruloplasmin and copper.
- MRI findings included marked intracranial arterial tortuosity.
- Symptoms of Menkes disease often appear two to three months after birth.
- Characteristic hair abnormalities were noted in both patients.
- MRI findings suggest the need for attention to vascular abnormalities in suspected cases.
Takeaway
This study looked at two babies with a rare disease called Menkes disease, showing that their brain scans had similar unusual blood vessel patterns.
Methodology
The study involved MRI examinations of two patients diagnosed with Menkes disease to observe intracranial arterial tortuosity.
Limitations
The findings are based on only two cases, which may limit the generalizability of the results.
Participant Demographics
Two male infants, aged 2 months and 5 months.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website