Abstract
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available.
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Abbreviations
- ALP:
-
Alkaline phosphatase
- apoCIII:
-
Apolipoprotein CIII
- AST, ALT:
-
Serum transaminases
- CDG:
-
Congenital disorders of glycosylation
- CK:
-
Creatine kinase
- GGT:
-
Gamma glutamyltransferase
- IEF:
-
Isoelectrofocusing
- MALDI-TOF:
-
Matrix-assisted laser desorption/ionization-time of flight
- Tf:
-
Serum transferrin
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Acknowledgements
The authors wish to thank Mrs. Barbara Wade for her linguistic advice.
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Communicated by: Eva Morava, MD PhD
Take Home Message
Take Home Message
Hypercholesterolemia and hypoceruloplasminemia, in a child with neurohepatic involvement, could be due to a congenital disorder of glycosylation, sometimes, as in this case, still unexplained.
Pier Luigi Calvo, Jaak Jaeken conceptualized and designed the study and drafted the initial manuscript.
Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B. Cefalù, L. Sturiale, D. Garozzo, Dirk J. Lefeber conceptualized and designed the study and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.
Communicated by: Pier Luigi Calvo.
Competing interest: none declared.
Funding source: no funding.
Financial disclosure: no financial relationships relevant to this article to disclose.
Ethics approval: yes.
Patient consent statement: obtained.
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Calvo, P.L. et al. (2017). An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 38. JIMD Reports, vol 38. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_35
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DOI: https://doi.org/10.1007/8904_2017_35
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