Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.
Am J Med Genet
; 86(2): 187-93, 1999 Sep 10.
Article
in En
| MEDLINE
| ID: mdl-10449659
ABSTRACT
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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hydrops Fetalis
/
Glycogen Storage Disease Type IV
/
Muscular Diseases
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Am J Med Genet
Year:
1999
Document type:
Article
Affiliation country:
Reino Unido