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CDG Type Ia and Congenital Cytomegalovirus Infection: Two Coexisting Conditions

Child Neurology Department, Medical University of Silesia, Katowice, Poland

Dariusz Adamek, MD, PhD

Department of Neuropathology, Institute of Neurology, Medical College, Jagiellonian University, Krakow, Poland

Justyna Paprocka, MD, PhD

Child Neurology Department, Medical University of Silesia, Katowice, Poland, justyna.paprocka{at}interia.pl

Maciej Adamowicz, PhD

Laboratory Diagnostics Department, The Children's Memorial Health Institute, Warsaw, Poland

Elbieta Marsza, MD, PhD

Child Neurology Department, Medical University of Silesia, Katowice, Poland

Ron A. Wevers, PhD

Laboratory of Pediatrics and Neurology, Randboud University Nijmegen Medical Centre, Nijmegen, Netherlands

Congenital disorders of glycosylation are a heterogeneous group of disorders with multisystemic involvement. The most common form is phosphomannomutase deficiency or congenital disorders of glycosylation type Ia with an autosomal recessive inheritance and incidence estimated at 1/20000— 1/50000 live born. Congenital disorders of glycosylation Ia can manifest as severe multisystemic disease of infancy or milder disorder with only neurological problems including ataxia, hypotonia, and psychomotor retardation. The brain pathological findings in congenital disorders of glycosylation type Ia patients corroborate with cerebellar dysfunction. Usually the most affected part is the anterior lobe of the vermis. Microscopic analysis demonstrates the prominent Purkinje cell loss and subtotal loss of the external and internal granule cell layers. The authors present clinical and pathological picture of a 4-month-old girl with congenital disorders of glycosylation type Ia, additionally complicated by congenital cytomegalovirus infection. The diagnosis was confirmed by low phosphomannomutase activity in patient's fibroblasts and mutations on both alleles of phosphomannomutase 2 gene.

Key Words: congenital disorders of glycosylation • type Ia • autopsy • cytomegalovirus infection

Journal of Child Neurology, Vol. 24, No. 1, 13-18 (2009)
DOI: 10.1177/0883073808321041


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