A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report
Abstract
1. Introduction and Clinical Significance
2. Case Presentation
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- Marchi, G.; Busti, F.; Lira Zidanes, A.; Castagna, A.; Girelli, D. Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis. Front. Neurosci. 2019, 13, 325. [Google Scholar] [CrossRef] [PubMed]
- Aydemir, S.T.; Bulut, O.; Ceylaner, S.; Akbostancı, M.C. Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation. Mov. Disord. Clin. Pract. 2020, 7, S67. [Google Scholar] [CrossRef]
- Kassubek, R.; Uttner, I.; Schönfeldt-Lecuona, C.; Kassubek, J.; Connemann, B.J. Extending the Aceruloplasminemia Phenotype: NBIA on Imaging and Acanthocytosis, yet Only Minor Neurological Findings. J. Neurol. Sci. 2017, 376, 151–152. [Google Scholar] [CrossRef] [PubMed]
- Pelucchi, S.; Mariani, R.; Ravasi, G.; Pelloni, I.; Marano, M.; Tremolizzo, L.; Alessio, M.; Piperno, A. Phenotypic Heterogeneity in Seven Italian Cases of Aceruloplasminemia. Park. Relat. Disord. 2018, 51, 36–42. [Google Scholar] [CrossRef] [PubMed]
- Vroegindeweij, L.H.P.; Langendonk, J.G.; Langeveld, M.; Hoogendoorn, M.; Kievit, A.J.A.; Di Raimondo, D.; Wilson, J.H.P.; Boon, A.J.W. New Insights in the Neurological Phenotype of Aceruloplasminemia in Caucasian Patients. Park. Relat. Disord. 2017, 36, 33–40. [Google Scholar] [CrossRef] [PubMed]
- Matsushima, A.; Yoshida, T.; Yoshida, K.; Ohara, S.; Toyoshima, Y.; Kakita, A.; Ikeda, S. Superficial Siderosis Associated with Aceruloplasminemia. Case Report. J. Neurol. Sci. 2014, 339, 231–234. [Google Scholar] [CrossRef] [PubMed]
- Wang, B.; Wang, X.-P. Does Ceruloplasmin Defend Against Neurodegenerative Diseases? Curr. Neuropharmacol. 2019, 17, 539–549. [Google Scholar] [CrossRef] [PubMed]
- Miyajima, H. Aceruloplasminemia, an Iron Metabolic Disorder. Neuropathology 2003, 23, 345–350. [Google Scholar] [CrossRef] [PubMed]
- Vroegindeweij, L.H.P.; van der Beek, E.H.; Boon, A.J.W.; Hoogendoorn, M.; Kievit, J.A.; Wilson, J.H.P.; Langendonk, J.G. Aceruloplasminemia Presents as Type 1 Diabetes in Non-obese Adults: A Detailed Case Series. Diabet. Med. 2015, 32, 993–1000. [Google Scholar] [CrossRef] [PubMed]
- Ogimoto, M.; Anzai, K.; Takenoshita, H.; Kogawa, K.; Akehi, Y.; Yoshida, R.; Nakano, M.; Yoshida, K.; Ono, J. Criteria for Early Identification of Aceruloplasminemia. Intern. Med. 2011, 50, 1415–1418. [Google Scholar] [CrossRef]
- Brissot, P.; Bernard, D.G.; Brissot, E.; Loréal, O.; Troadec, M.-B. Rare Anemias Due to Genetic Iron Metabolism Defects. Mutat. Res./Rev. Mutat. Res. 2018, 777, 52–63. [Google Scholar] [CrossRef]
- Vroegindeweij, L.H.P.; Boon, A.J.W.; Wilson, J.H.P.; Langendonk, J.G. Aceruloplasminemia: Neurodegeneration with Brain Iron Accumulation (NBIA) Associated with Parkinsonism. J. Inherit. Metab. Dis. 2015, 38, 375–376. [Google Scholar] [CrossRef] [PubMed]
- Schipper, H.M. Neurodegeneration with Brain Iron Accumulation—Clinical Syndromes and Neuroimaging. Biochim. Et Biophys. Acta (BBA)-Mol. Basis Dis. 2012, 1822, 350–360. [Google Scholar] [CrossRef] [PubMed]
- Watanabe, M.; Asai, C.; Ishikawa, K.; Kiyota, A.; Terada, T.; Kono, S.; Miyajima, H.; Okumura, A. Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia. Intern. Med. 2010, 49, 1581–1585. [Google Scholar] [CrossRef] [PubMed]
- Colucci, F.; Barca, S.; Cilia, R.; De Franco, V.; Elia, A.E.; Golfrè Andreasi, N.; Romito, L.; Telese, R.; Braccia, A.; Leta, V.; et al. Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation. Mov. Disord. Clin. Pract. 2024, 11, S14. [Google Scholar] [CrossRef] [PubMed]
- Finkenstedt, A.; Wolf, E.; Höfner, E.; Gasser, B.I.; Bösch, S.; Bakry, R.; Creus, M.; Kremser, C.; Schocke, M.; Theurl, M.; et al. Hepatic but Not Brain Iron Is Rapidly Chelated by Deferasirox in Aceruloplasminemia Due to a Novel Gene Mutation. J. Hepatol. 2010, 53, 1101–1107. [Google Scholar] [CrossRef] [PubMed]
- Poli, L.; Alberici, A.; Buzzi, P.; Marchina, E.; Lanari, A.; Arosio, C.; Ciccone, A.; Semeraro, F.; Gasparotti, R.; Padovani, A.; et al. Is Aceruloplasminemia Treatable? Combining Iron Chelation and Fresh-Frozen Plasma Treatment. Neurol. Sci. 2017, 38, 357–360. [Google Scholar] [CrossRef]
- Vroegindeweij, L.H.P.; Boon, A.J.W.; Wilson, J.H.P.; Langendonk, J.G. Effects of Iron Chelation Therapy on the Clinical Course of Aceruloplasminemia: An Analysis of Aggregated Case Reports. Orphanet J. Rare Dis. 2020, 15, 105. [Google Scholar] [CrossRef]
- Miyake, Z.; Nakamagoe, K.; Yoshida, K.; Kondo, T.; Tamaoka, A. Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature. Intern. Med. 2020, 59, 1755–1761. [Google Scholar] [CrossRef]
- Hayashida, M.; Hashioka, S.; Miki, H.; Nagahama, M.; Wake, R.; Miyaoka, T.; Horiguchi, J. Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). Medicine 2016, 95, e3594. [Google Scholar] [CrossRef]
- Rusticeanu, M.; Zimmer, V.; Schleithoff, L.; Wonney, K.; Viera, J.; Zimmer, A.; Hübschen, U.; Bohle, R.M.; Grünhage, F.; Lammert, F. Novel Ceruloplasmin Mutation Causing Aceruloplasminemia with Hepatic Iron Overload and Diabetes without Neurological Symptoms. Clin. Genet. 2014, 85, 300–301. [Google Scholar] [CrossRef] [PubMed]
- Ronquillo, C.C.; Sauer, L.; Morgan, D.; Heckzo, J.B.; Creel, D.J.; Mamalis, N.; DeAngelis, M.M.; Hagemann, G.S.; Bernstein, P.S. Absence of macular degeneration in a patient with aceruloplasminemia. Retina 2019, 39, 1824–1828. [Google Scholar] [CrossRef] [PubMed]
- Stelten, B.M.L.; van Ommen, W.; Keizer, K. Neurodegeneration With Brain Iron Accumulation. JAMA Neurol. 2019, 76, 229. [Google Scholar] [CrossRef]
- Badat, M.; Kaya, B.; Telfer, P. Combination-therapy with Concurrent Deferoxamine and Deferiprone Is Effective in Treating Resistant Cardiac Iron-loading in Aceruloplasminaemia. Br. J. Haematol. 2015, 171, 430–432. [Google Scholar] [CrossRef]
Serum Test | Patient’s Values | Normal Range |
---|---|---|
Hemoglobin | 13.8 g/dL | 13.5–15.5 g/dL |
MCV 1 | 85.8 fL | 80–100 fL |
MCH 2 | 27.2 pg/cell | 27–33 pg/cell |
MCHC 3 | 31.7 g/dL | 32–36 g/dL |
Ferritin | 1573 ng/mL | 13–70 ng/mL |
Iron | 43 μg/mL | 55–150 μg/mL |
Ceruloplasmin | 3 mg/dL | >20 mg/dL |
Copper | 5.6 μg/dL | 10–15 μg/dL |
Glycosylated hemoglobin | 6.2% | <5.7% |
C-peptide | 1.6 ng/mL | 0.5–3.3 ng/mL |
Insulin | 9.7 μIU/mL | 1.9–23.0 μIU/mL |
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Giannakis, A.; Konstantinos, T.; Argyropoulou, M.; Xiromerisiou, G.; Konitsiotis, S. A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report. Reports 2025, 8, 4. https://doi.org/10.3390/reports8010004
Giannakis A, Konstantinos T, Argyropoulou M, Xiromerisiou G, Konitsiotis S. A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report. Reports. 2025; 8(1):4. https://doi.org/10.3390/reports8010004
Chicago/Turabian StyleGiannakis, Alexandros, Tsamis Konstantinos, Maria Argyropoulou, Georgia Xiromerisiou, and Spiridon Konitsiotis. 2025. "A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report" Reports 8, no. 1: 4. https://doi.org/10.3390/reports8010004
APA StyleGiannakis, A., Konstantinos, T., Argyropoulou, M., Xiromerisiou, G., & Konitsiotis, S. (2025). A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report. Reports, 8(1), 4. https://doi.org/10.3390/reports8010004