[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case].
Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching enzyme 1). Two compound heterozygous mutations in the gene were identified. The differential diagnosis should include Lafora disease as well as polyglucosan body disease. Since there is no effective therapy for glycogenosis type IV to date, prenatal diagnosis is mandatory.
Gemeinschaftspraxis für Pathologie, Ellerried 7, 19061, Schwerin, Deutschland. mail@patho-sn.de
D
D
Rothacker
A
A
Winterroth
M
M
Buller
M
M
Vogel
H
H
Zhou
G
G
Kistner
G
G
Gillessen-Kaesbach
J
J
Kohlhase
D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics; D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001724:Birth Weight; D007446:Chromosome Inversion / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D005320:Fetal Macrosomia / Q000473:pathology; D006580:Genetic Carrier Screening; D005936:Glucans / Q000032:analysis; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D022781:Hepatocytes / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D050497:Stillbirth / Q000235:genetics
D005936:Glucans; D015061:1,4-alpha-Glucan Branching Enzyme