A clinical case with PMM2-CDG and Dandy-Walker malformation
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Дата
2010-10
Автори
Stancheva, M.
Kremenski, I.
Apostolova, M.
Jaeken, J.
van Schaftingen, E.
Matthijs, G.
Ivanova, N.
Bojinova, V.
Radeva, B.
Perenovska, P.
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ISSN на списанието
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Издател
Централна медицинска библиотека, МУ София / Central Medical Library - MU Sofia
Резюме
The authors report a 6-year-old boy with PMM2-CDG who presented with mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar and epileptic syndrome, inverted nipples, inguinal hernia, cryptorchidism, pectus carinatum. The MRI in the early childhood period showed Dandy-Walker malformation. The diagnosis was revealed with IEF of serum transferrin and confi rmed with capillary zone electrophoresis. In cultured skin fi broblasts, the patient exhibited deficient phosphomannomutase (0.9 mU/mg protein). The sequence analysis showed compound heterozygosity for the common R141H/V231M mutations.
Описание
Address for correspondence:
Dr. Malina Stancheva, Department of Pediatrics,;
Medical University of Sofia,
1, Sv. G. Sofiiski, 1431, Sofia, Bulgaria
tel.: +3592 9230 640 ****
e-mail: malinastancheva@yahoo.com
Ключови думи
PMM2-CDG, Dandy-Walker malformation
Цитирания
M. Stancheva, I. Kremenski, M. Apostolova , J. Jaeken, E. van Schaftingen, G. Matthijs, N. Ivanova, V. Bojinova, B. Radeva, P. Perenovska, K. Vladimirova, R. Vajarova and D. Todorova. A clinical case with PMM2-CDG and Dandy-Walker malformation - Acta Medica Bulgarica, 37, 2010, № 2, 80-84.