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PEDIATRICS Vol. 112 No. 2 August 2003, pp. 332-340

The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

Hannerieke M. P. van den Hout*, Wim Hop, Otto P. van Diggelen§, Jan A. M. Smeitink||, G. Peter A. Smit#, Bwee-Tien T. Poll-The**, Henk D. Bakker{ddagger}{ddagger}, M. Christa B. Loonen{ddagger}, Johannis B. C. de Klerk*, Arnold J. J. Reuser§ and Ans T. van der Ploeg*

* Divison of Metabolic Diseases and Genetics, Department of Pediatrics
{ddagger} Department of Child Neurology, Erasmus Medical Center/Sophia Children’s Hospital, Rotterdam, the Netherlands
§ Department of Clinical Genetics
Department of Epidemiology and Biostatistics, Erasmus University, Rotterdam, the Netherlands
|| Department of Metabolic Diseases, University Medical Center, Nijmegen, the Netherlands
# Department of Metabolic Diseases, Beatrix Clinic, University Hospital Groningen, Groningen, the Netherlands
** Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Hospital Utrecht/Department of Child Neurology Emma Children’s Hospital, Academic Medical Center, Amsterdam, the Netherlands
{ddagger}{ddagger} Department of Metabolic Diseases, Emma Children’s Hospital, Academic Medical Center, Amsterdam, the Netherlands

Objective. Infantile Pompe’s disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies.

Methods. A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected.

Results. The course of Pompe’s disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe’s disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid {alpha}-glucosidase activity is severely deficient.

Conclusions. Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe’s disease. Mutation analysis and measurement of the {alpha}-glucosidase activity should be part of the enrollment program.

Key Words: Pompe’s disease • {alpha}-glucosidase • acid maltase • enzyme replacement • glycogen storage disease type II

Abbreviations: ASAT, aspartate aminotransferase • ALAT, alanine aminotransferase • CK, creatine kinase • LDH, lactate dehydrogenase • CK-MB, creatine kinase-myocardial band isoenzyme • LVPWd, left ventricular posterior wall was measured at the diastole • CRIM, cross-reactive immunologic material • EKG, electrocardiogram • MRI, magnetic resonance imaging

Received for publication Apr 18, 2002; Accepted Dec 23, 2002.




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