Case Of Glycogen Storage Disease Research Articles

Glycogen-storage disease. Report of a case with generalized glycogenosis and review of the literature.

A case of glycogen-storage disease (Coritype II), with accumulation of glycogen in the myocardium, skeletal muscle, smooth muscle, liver, kidney, central nervous system, and autonomic ganglia is presented. Glycogen storage in the autonomic ganglia of the intestinal tract (Plexus-myentericus-Auerbach), which gave rise clinically to Hirschsprung's disease, could explain the feeding problems and constipation often observed in these cases. The classification into four different types of Cori and Andersen appears to be the most satisfactory one at the present time. These types are different disease entities with the same expression of abnormality, the deposition of glycogen; but the pathogenesis and the clinical and pathologic findings are strikingly different. Glycogen storage of the heart is probably more common than the review of the literature indicates. Many of these cases are missed, mainly types III and IV, because the possibility is not considered and the patient is inadequately studied in life and during necropsy.

Glycogen storage disease of the heart: First case in Japan ∗

A case of glycogen storage disease of the heart is reported. This is believed to be the first such case in Japan. An unusual feature is the age at death (two years, seven months).

Glycogen Storage Disease of the Myocardium

1.A case of glycogen storage disease of the myocardium is presented with additional evidence of hepatic, renal and bladder involvement. The clinieal course and autopsy findings are described.2.The glycogen storage diseases are now recognized as being manifestations of abnormal metabolism of glycogen. There are particular chemical variations in structure as well as disturbances in enzymatic function which aid in the recognition of the particular clinical variant.3.To date five clinical variants are recognized, each having specific clinical and laboratory features.

GLYCOGEN DISEASE OF SKELETAL MUSCLE

Two cases of glycogen storage disease primarily affecting the skeletal muscle are presented. The patients were not related to each other, but both are from consanguineous families. In both cases a tentative clinical diagnosis was confirmed by skeletal muscle biopsy. Histologic studies of the skeletal muscle reveal a picture similar to that found in glycogen disease of the myocardium. Individual fibers show severe vacuolization with massive deposits of glycogen within the vacuoles. Large quantities of a basophilic material (presumably identical with that found in myocardial glycogenosis) are also found within the vacuoles. This material is characterized as an acid mucopolysaccharide; its histochemical and tinctorial properties are described. A method is given for avoiding the apparent discrepancy which may occur between the histochemical and biochemical estimations of glycogen content of skeletal muscle. The destruction of skeletal muscle is so severe and so extensive that the clinical signs of neurological involvement present in both our cases can be quite adequately and entirely accounted for by the local muscular damage. Previously reported cases of glycogen disease of skeletal muscle are reviewed. It was found that Werdnig-Hoffmann's progressive muscular atrophy could be distinguished from glycogen disease of skeletal muscle by the early appearance of pseudo-bulbar symptoms (especially dysphagia) in the latter disease. The relationship between the myocardial and the skeletal muscle forms of glycogen disease is discussed. Although clinically the 2 conditions may appear as 2 distinct entities, quantitative laboratory methods show considerable overlap in the 2 conditions. Skeletal muscle biopsy is indicated in every instance of progressive muscular weakness in order not to miss a possible case of glycogen storage disease primarily affecting skeletal muscle. The high glycogen content estimated biochemically and the histological picture described above are pathognomonic for this disease.

GLYCOGEN STORAGE DISEASE OF THE LIVER

1. Three cases of glycogen storage disease occurring in the early neonatal period are presented. Two of these were in siblings, 1 of whom died at the age of 1 day. 2. Tachypnea and enlargement of the liver were the prominent manifestations of the illness. The similarity between this syndrome and other syndromes points up the need for instituting suitable clinical and pathologic diagnostic procedures in the early neonatal period. 3. Determinations of glycogen and glucose-6-phosphatase in the liver in 2 of these patients are presented. 4. Quantitatively standardized glucagon tolerance curves are presented in 2 of these patients and compared with those obtained in normal infants. The character of the response suggests its value as a diagnostic test in this condition. 5. Electroencephalographic tracings during periods with marked hypoglycemia and during periods with normal values for blood sugar were found to be essentially normal. It is suggested that some unusual mechanism for the maintenance of cerebral metabolism during hypoglycemia may be present.

Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease).

SINCE von Gierke 1 reported his two cases of glycogen storage disease in 1929, fewer than 100 cases have been reported thus far in the medical literature. Because of the rarity of the condition and the fact that we could not find any case reports in the dermatologic literature, this case of eruptive xanthoma and hyperlipemia in glycogen storage disease is deemed worthy of publication. REPORT OF A CASE V. K., a 4-month-old white girl, was born after a full term pregnancy and a normal delivery. Her birth weight was 2,975 gm. (6 lb., 9 oz.). During her neonatal period, the infant had diarrhea and frequent vomiting until these were stopped by change of formula. The infant then appeared to thrive up to 2 months of age. It was then noticed that she had a constantly distended abdomen and frequent stools. About two weeks prior to the admission of

DISORDERS OF GLYCOGEN METABOLISM

Five cases have been presented with evidence of disordered glycogen metabolism. Two cases of glycogen storage disease of the liver are included which were confirmed by biopsy, together with clinical and laboratory evidence. Treatment of one of the cases with adrenocorticotropic hormone resulted in a disappearance of hypoglycemia and acetonuria during the period of therapy. Two cases of glycogen storage disease of the heart are reported together with clinical histories and necropsy reports. An ECG which was recorded on one of the patients is included. A case of galactosemia is reported together with extensive laboratory evidence of marked galactose intolerance. The criteria for the diagnosis of these entities are reviewed and the symptomatology, physical findings, treatment, prognosis and pathologic manifestations are discussed.

GLYCOGEN STORAGE DISEASE OF THE HEART

Two cases of glycogen storage disease of the heart occurring in siblings are reported. The first patient died at the Babies Hospital in 1922 and the diagnosis was established at autopsy. The second patient was admitted in 1948 and died after 33 days in the hospital. The family history reveals that the mother of the two patients had eight other children, of whom two are suspected of having succumbed to the same condition. Detailed clinical, chemical and pathologic studies were carried out on the second patient. Numerous chemical determinations were performed both before and after death. The pathologic changes were characteristic of those previously described in cases of glycogen storage disease of the heart. Despite the name of the disease, the abnormal glycogen accumulation and the consequent altered cellular structure were not limited to the heart, but were found in many other organs and tissues of the body. The chemical data revealed an apparently normal sequence of events in the mechanisms for carbohydrate metabolism that could be investigated. It was therefore hypothesized that the metabolic error lay in an excessive rate of accumulation of glycogen in the tissues. It was suggested that this might be consequent to the formation of a polysaccharide closely allied to glycogen, but differing from it in its chemical structure, or to inability of these patients to transform carbohydrate to fat.

Observations on the treatment of a case of glycogen storage disease

A typical case of the hepatic type of von Gierke's disease in a 2-year-old boy is reported. Symptoms associated with hypoglycemia were a prominent part of the condition. He was put on a high protein and low carbohydrate diet with very dramatic relief of these symptoms. Laboratory evidence supports the clinical impression that improvement was due to the more sustained blood sugar levels and less rapid fall to hypoglycemic values when placed on such a diet. It is probable that the fundamental disease process was little altered by such therapy. A typical case of the hepatic type of von Gierke's disease in a 2-year-old boy is reported. Symptoms associated with hypoglycemia were a prominent part of the condition. He was put on a high protein and low carbohydrate diet with very dramatic relief of these symptoms. Laboratory evidence supports the clinical impression that improvement was due to the more sustained blood sugar levels and less rapid fall to hypoglycemic values when placed on such a diet. It is probable that the fundamental disease process was little altered by such therapy.

SO-CALLED CONGENITAL IDIOPATHIC HYPERTROPHY OF THE HEART

A survey of the literature reveals that under the heading congenital idiopathic hypertropy of the numerous pathologic conditions are included. In some of the cases the cause for the hypertrophy is known and therefore the cardiac enlargement should not be identified as idiopathic. To this group in particular belong the cases of glycogen storage disease, 1 cases of enlargement of the heart associated with hypertension 2 and cases of enlargement accompanying severe anemia. 3 In a much larger number of cases, while the etiologic factors are not absolutely established, cardiovascular abnormalities and/or pathologic changes are reported which could have some causal relation to the cardiac hypertrophy. This group comprises cases in which there are anomalies of the great vessels, 4 abnormalities of the origin and distribution of the coronary arteries, 5 rhabdomyomas, 6 myocardial degeneration and pericardial, endocardial and perivascular fibrosis. 7 (Footnotes continued on next page) It is