-transparent.png){kind=logo}
We report on the autopsy study of a premature boy with multiple joint contractures who died soon after birth of severe lung hypoplasia. Muscle histology showed PAS-positive vacuoles, and electronmicroscopy revealed massive subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical analysis of fresh-frozen muscle tissue disclosed increased glycogen content and a complete lack of phosphofructokinase (PFK) activity. The brain showed focal cerebral and diffuse cerebellar white matter gliosis, and patchy loss of internal granular and Purkinje cells in the cerebellar cortex. The spinal cord was normal. This report describes the first case of PFK deficiency, presenting as a lethal fetal akinesia sequence.
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 2013,
Nederlands tijdschrift voor geneeskunde,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
June 1974,
Ugeskrift for laeger,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
February 2010,
Minerva pediatrica,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 1988,
American journal of medical genetics,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 1991,
Pediatric pathology,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
December 1983,
Pediatrics,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 2006,
Medicinski arhiv,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
September 1991,
American journal of medical genetics,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 1978,
Monographs in human genetics,
P Moerman, and
M Lammens, and
J P Fryns, and
F Lemmens, and
J M Lauweryns
January 1990,
Genetic counseling (Geneva, Switzerland),
