Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.
We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated massive accumulation of diastase-resistant periodic acid-Schiff-positive material in the skeletal muscle cells and epidermal keratinocytes of all 3 fetuses. Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type IV with onset in the early second trimester.
Cox
P M
PM
Division of Investigative Science, Imperial College School of Medicine, London, United Kingdom. pcox@rpms.ac.uk
Brueton
L A
LA
Murphy
K W
KW
Worthington
V C
VC
Bjelogrlic
P
P
Lazda
E J
EJ
Sabire
N J
NJ
Sewry
C A
CA
D015061:1,4-alpha-Glucan Branching Enzyme / Q000378:metabolism; D000328:Adult; D017668:Age of Onset; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D014644:Genetic Variation; D005865:Gestational Age; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D011247:Pregnancy
D015061:1,4-alpha-Glucan Branching Enzyme