Question

A 6month infant has hepatosplenomegaly, failure to thrive, musclc weakncss, hypotonia, decreased deep tendon reflex. Lab result.normal blood glucose. Liver biopsy:(+) initial stage of cirrhosis due to accumulation of an abnormal glycogen that has few branchpoints. Clinical picture and labs are consistent with which type of glycogen storage discasc (GSD)? explain the reason also

Answer 1

Answer - Progressive hepatic type (GSD IV).

The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate that is failure to thrive and develop an enlarged liver called as hepatomegaly. Children with this type develop a form of liver disease called cirrhosis. High blood pressure in the vein that supplies blood to the liver and an abnormal buildup of fluid in the abdominal cavity can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.

While in case of the non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness i.e myopathy. Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.

The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy.