Deficiency

ID/CC

HPI PE

Labs

Imaging Gross Pathology

Micro Pathology

Treatment Discussion

A 2-month-old child is brought to the pediatrician because of failure to gain weight, increasing weakness, insufficient strength to breast feed, and lethargy.

He is the second-born son of a healthy white couple; his mother's pregnancy and delivery were uneventful.

Mild cyanosis; shallow respirations; increase in size of tongue (= MACROGLOSSLA.); moderate hepatomegaly; significant generalized muscular flaccidity.

CBC: normal. Lytes: normal. Glucose, BUN, creatinine normal. ECG: short P-R; wide QRS; left axis deviation.

CXR: extreme cardiomegaty and congestive heart failure.

Significant increase in size and weight of heart (up to five times normal); to lesser extent, hepatomegaly.

Extensive intracytoplasmic and lysosomal deposition of glycogen on myocardial fibers as well as in striated muscle fibers, kidney, and liver.

Poor prognosis; associated with early death from cardiopulmonary failure.

A type II glycogen storage disease (generalized), this fatal disorder is caused by an autosomal-recessive deficiency in the lysosomal enzyme (only glycogenosis with lysosomal involvement) alpha-1,4-glucosidase (= ACID MALTASE), with resulting accumulation of glycogen in the heart, muscle, kidney, and liver. p. 150

ID/CC

PE Labs

Imaging Gross Pathology Micro Pathology Treatment Discussion

A 5-year-old girl is referred to a hematologist for an evaluation of chronic anemia that has been unresponsive to nutritional supplementation.

Both parents are clinically normal and are first cousins who arc Amish. The patient has no history of passage of dark-colored urine or recurrent infections.

Low weight and height for age; pallor; mild jaundice; spleen barely palpable; liver not enlarged.

CBC/PBS: anemia; markedly increased reticulocyte count;

peripheral blood reveals macro-ovalocytosis with a few echinocytes; no sicklc cells or spherocytes seen. UA: urinary hemosiderin present. Reduced serum haptoglobin; diminished activity of pyruvate kinase in RBCs on spectrophotometry.

Exchange transfusions. Splenectomy.

Pyruvate kinase deficiency is inherited as an autosomal-recessive trait and usually produces mild symptoms (hemolytic anemia); 2,3-diphosphoglycerate accumulates, shifting the hemoglobin-oxygen dissociation curve to the right (due to reduccd affinity of RBCs for oxygen).

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