[Glycogenosis type II with early onset: peculiar features in a case report].
A case report of glycogenosis II with early infantile onset (type a) is presented and discussed. Some unusual features were observed. Pathological signs, involving the urinary tract, developed during the first days of life. Early instrumental evidence of myocardial disease and early onset of accompanying clinical signs were also seen. A further argument is proposed about guidelines for differential diagnosis of disease which can cause hypertrophic cardiomyopathy in infantile age.
Soavi
N
N
Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Roma.
Casadio
L
L
Prandstraller
D
D
Scorza
P
P
Picchio
F M
FM
D017668:Age of Onset; D006332:Cardiomegaly / Q000000981:diagnostic imaging / Q000209:etiology; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology; D003937:Diagnosis, Differential; D004562:Electrocardiography; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D014463:Ultrasonography
Glicogenosi tipo II ad esordio precoce: aspetti peculiari di un caso clinico.