[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].
BACKGROUND
Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with different clinical symptomatology and treated with enzyme replacement therapy (ERT) with positive evolution.


METHODS
Case 1: three-month old male, with weakness and rejecting meals; mild hepatomegaly, discrete macroglossia and muscular hypotony; and increased muscular enzymes. Case 2: five-month old male, with delayed motor development, severe neurosensory deafness, and respiratory disorder of difficult evolution; muscular hypotony; and mild increase in creatine kinase. Case 3: 22-year old male, with progressive dyspnea, with history of increased creatine kinase and transaminases, and hypercholesterolemia. He suffered from severe respiratory failure requiring endotraqueal intubation Muscular biopsy showed glycogen storage suggestive of Pompe disease. In the three cases, the EMG showed a characteristic pattern with pseudomyotonic discharges and the deficiency in GAA was confirmed in lymphocytes. One single mutation was observed in one case and two in the other two cases. Every patient received ERT showing a favorable evolution; with disappearance of cardiac disorders in case 1, improvement in motor development in both infants and no longer need for mechanical ventilation in case 3.


CONCLUSIONS
Pompe disease has a wide variability in clinical expression. ERT achieves a good response, especially in infant forms of the disease. The survival of treated patients with these Pompe disease forms will allow knowing further the course of the disease.
Hospital Universitario Puerta del Mar, 11009 Cadiz, Espana.
Myriam
M
Ley-Martos
María J
MJ
Salado-Reyes
Raúl
R
Espinosa-Rosso
Jesús
J
Solera-García
Luis
L
Jiménez-Jiménez
D017668:Age of Onset; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology; D004200:Diseases in Twins; D056947:Enzyme Replacement Therapy; D018740:Genetic Heterogeneity; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency / Q000235:genetics / Q000627:therapeutic use*; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D010641:Phenotype; D012120:Respiration Disorders / Q000209:etiology; D014429:Twins, Dizygotic; D055815:Young Adult
D005087:Glucan 1,4-alpha-Glucosidase