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Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease
Vorasuk Shotelersuk1, Shanop Shuangshoti, Pairoj Chotivitayatarakorn
1Department of Pediatrics Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Insights
Two Thai children with Pompe disease, a genetic glycogen metabolism disorder, presented with severe hypotonia and organomegaly. Early diagnosis is crucial for genetic counseling and prenatal diagnosis in Thailand.
Area of Science:
- Medical Genetics
- Biochemistry
- Pediatrics
Background:
- Pompe disease is a rare genetic disorder caused by a deficiency in lysosomal acid alpha-glucosidase.
- This deficiency leads to glycogen accumulation in various tissues, including the heart, liver, and brain.
- The disease follows an autosomal recessive inheritance pattern.
Observation:
- Two unrelated Thai children presented with hypotonia, cardiomegaly, and hepatomegaly in infancy.
- Diagnostic imaging revealed enlarged hearts with characteristic EKG abnormalities.
- Electron microscopy of skin biopsies showed membrane-bound glycogen deposits.
Findings:
- Clinical and pathological findings were consistent with Pompe disease.
- Autopsy confirmed widespread glycogen accumulation, leading to cardiorespiratory failure and death in both children.
- The identified cases highlight the presence of Pompe disease in the Thai pediatric population.
Implications:
- There is a critical need for accessible diagnostic testing for Pompe disease in Thailand.
- Establishing biochemical or mutation analysis services is essential for accurate diagnosis.
- Implementing diagnostic services will enable genetic counseling and prenatal diagnosis for affected families.
Abstract:
The authors report on a Thai boy who first presented at age 7 months and an unrelated Thai girl in her neonatal period with hypotonia, cardiomegaly and hepatomegaly. Their chest roentgenograms showed markedly enlarged hearts, EKGs showed abnormally shortened PR intervals with gigantic QRS complexes, and electron microscopic studies of their skin samples showed glycogen accumulations surrounded by membranes. The boy died at age 22 months and the girl at age 9 months due mainly to cardiorespiratory failure. Autopsy of the girl showed marked accumulation of glycogen in the liver, heart and numerous additional tissues including her brain. The clinical, pathological, and electron microscopic findings of these two children are consistent with the diagnosis of Pompe disease. Pompe disease is an autosomal recessive disorder of glycogen metabolism resulting from deficiencies in activity of the lysosomal acid alpha-glucosidase. Definite diagnosis of the disease can be made from a biochemical test or a mutation analysis. To the authors' knowledge, no service laboratories in Thailand offer the tests. Because Thai children have occasionally been reported to be affected by Pompe disease, an attempt to establish a definite diagnostic test for Pompe disease in Thailand should be encouraged. With a definite diagnosis, the proper genetic counseling and prenatal diagnosis could be offered to the families.