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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
Eur J Pediatr 2014; 173(9):1253-6EJ

Abstract

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm.

CONCLUSION

In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

Authors+Show Affiliations

Department of Pediatric Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany, jana.dieks@med.uni-goettingen.de.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24973050

Citation

Dieks, Jana-Katharina, et al. "Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) With Multiple Vascular Complications Misdiagnosed as Dubowitz Syndrome." European Journal of Pediatrics, vol. 173, no. 9, 2014, pp. 1253-6.
Dieks JK, Baumer A, Wilichowski E, et al. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Eur J Pediatr. 2014;173(9):1253-6.
Dieks, J. K., Baumer, A., Wilichowski, E., Rauch, A., & Sigler, M. (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9), pp. 1253-6. doi:10.1007/s00431-014-2368-5.
Dieks JK, et al. Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) With Multiple Vascular Complications Misdiagnosed as Dubowitz Syndrome. Eur J Pediatr. 2014;173(9):1253-6. PubMed PMID: 24973050.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. AU - Dieks,Jana-Katharina, AU - Baumer,Alessandra, AU - Wilichowski,Ekkehard, AU - Rauch,Anita, AU - Sigler,Matthias, Y1 - 2014/06/29/ PY - 2014/05/21/received PY - 2014/06/19/accepted PY - 2014/06/17/revised PY - 2014/6/29/entrez PY - 2014/6/29/pubmed PY - 2015/6/3/medline SP - 1253 EP - 6 JF - European journal of pediatrics JO - Eur. J. Pediatr. VL - 173 IS - 9 N2 - UNLABELLED: To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. CONCLUSION: In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/24973050/Microcephalic_osteodysplastic_primordial_dwarfism_type_II__MOPD_II__with_multiple_vascular_complications_misdiagnosed_as_Dubowitz_syndrome_ L2 - https://dx.doi.org/10.1007/s00431-014-2368-5 DB - PRIME DP - Unbound Medicine ER -