Like mother, like daughter: A case report of multiple family members affected by Pompe disease

Pompe disease is a rare, lysosomal storage disease resulting from reduced levels of alpha glucosidase (GAA) enzyme. The disease is divided into two subtypes: infantile onset and late onset. Infantile onset Pompe disease typically presents with cardiomyopathy and hyptonia in the early neonatal period progressing to death by age 2 for those untreated. Late onset disease has a more generalized presentation with respiratory decline, muscle wasting and weakness, without cardiomyopathy, beginning in the proximal muscles, occurring typically after the first 12 months of life. The symptoms are variable and seem to correlate with the amount of residual GAA activity. The condition is inherited in an autosomal recessive fashion. Due to this recessive inheritance, it is uncommon to see multiple generations in one family with the condition. Recessive disease can sometimes present as a pseudo-dominant condition in populations where carriers are common due to founder effect, such as Gaucher disease in the Ashkenazi Jewish population. They also occur more frequently where consanguinity occurs. We present a case with two generations of a family affected by Pompe disease with multiple family members in each generation affected, all females. In addition, there is possibly another, as yet unidentified, genetic disorder in the family. Our case highlights the importance of screening other family members for rare genetic diseases despite the lower probability of disease based on mode of inheritance.