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Glycogen Storage Disease the Systemic Examination Was Non-Contri- Butory

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Glycogen Storage Disease the Systemic Examination Was Non-Contri- Butory LETTERS TO THE EDITOR Glycogen Storage Disease the systemic examination was non-contri- butory. Investigations showed a normal hemo- gram, platelet count and ADP aggregation test. Liver function tests revealed total bili- A.K. Sarkar rubin 0.4 mg/dl, total protein of 7.1 g/dl A.K. Ghosh with albumin 4.8 g/dl, alkaline phosphates K. Biswas 70 IU/L, SGOT 75 IU/L, SGPT 65 IU/L B.S. Roy and prothrombin time 13 sec against the K. Sarkar control time of 12.5 sec. Random blood sugar was 62 mg/dl, serum triglycerides 92 mg/dl, cholesterol 140 mg/dl, lactic acid 12.8 mg/dl and uric acid 2.6 mg/dl. Fasting blood sugar was 60 mg/dl and following IV glucagon, its values were 80 mg/dl, 90 mg/ dl, 78 mg/dl and 70 mg/dl when examined after + h, 1 + h and 2 h. After meals, blood The glycogen storage diseases (GSD) or glucose was 65 mg/dl and 2 h after glucagon glycogenoses are a heterogenous group of administration it rose to 105 mg/dl. inborn errors of carbohydrate metabolism that lead to abnormal concentrations or ECG and X-ray chest revealed no abnor- structure of glycogen. Several well defined mality. Ultrasonography of the abdomen disorders of glycogen metabolism, have showed grossly enlarged liver with uniform been described based on the identified echotexture. Spleen and kidneys were of enzymatic defects or sometimes the distin- normal size and shape. Liver biopsy showed ctive features(l). We wish to report our marked enlargement of hepatocytes with experience with one such case of Type-IX obliteration of the sinusoids. Special stains GSD. revealed hepatocytes containing large amount of diastase sensitive PAS positive material, A 3-year-old boy of non-consanguinous i.e., glycogen (Fig. 1). parents was brought with progressive dis- Gradual abdominal protuberance from tension of abdomen since 2 years of age. early childhood and huge hepatomegaly There was no history of jaundice, convul- pointed to a metabolic disorder. Tt needs to sion or similar disorder in the family. Clinical be emphasized that most cases of GSD are examination revealed an alert, well-nour- characterized by huge hepatomegaly with- ished child with distended abdomen. The out splenomegaly unless portal hyperten- liver was enlarged 12 cm below the right sion supervenes due to cirrhosis(2). There costal margin, firm in consistency with well have been only isolated case reports of GSD defined margin and smooth surface. Spleen from India(2,4) but the disorder should be and kidneys were not palpable. The rest of borne in mind especially where there is family history of a similar disorder or where paren- From the Departments of Pediatrics and Patho- logy, Institute of Post Graduate Medical tal consanguinity exists. Among the GSD, Education and Research and S.S.K.M. Type-I is the commonest and a number of Hospital, Calcutta. cases have been reported from India(2). 234 Due to lack of facilities for enzymatic been observed in the present case favors the studies it is rather difficult to precisely cate- possibility of Type IS GSD as opposed to gorize our patient but an effort has been Type VI where glucose tolerance curve made to classify the case on the basis of remains fiat. As the patient in question did clinical and biochemical features particu- not exhibit any neurological features in the larly glucagon stimulation test. Marked form of ataxia, nystagmus, 'dancing eyes', hepatomegaly without splenomegaly com- hypertonia or spasticity; Type VIII GSD monly occur in Types I, III, VI, VIII, IX, was not taken into consideration. In type X X and XI GSD. Absence of hypoglycemia, GSD apart from persistent hepatomegaly hyperlipidemia, lactic acidosis bleeding, possible muscle weakness, only reported, diathesis, renal enlargement and presence of there is no rise in blood glucose after IV normal platelet adhesiveness may be the glucagon. Type XI is characterized by rickets important pointers against diagnosis of Type and growth failure secondary to renal Fanconi I GSD. Moreover, normal hyperglycemic syndrome. Judging the above mentioned reaction following IV glucagon both after features, a diagnosis of Type IX GSD was overnight fasting and 2 hours after a meal made. Further characterization to sub goes conclusively against this condition. types IX a, b, c, requires specific enzyme Increase of blood glucose concentration when assay of leukocytes, cultured skin fibrob- glucagon is administered after fasting, normal lasts or liver. The patients with Type IX cholesterol and triglyceride levels exclude GSD run a benign course and hepatomegaly Type III GSD. Presence of normal hyper- gradually recedes as the children grow glycemic response to IV glucagon as has older(l). 235 LETTERS TO THE EDITOR REFERENCES RG. Glycogen storage disease. Indian Pediatr 1983, 20: 208-213. 1. Hug G. Inborn Errors of Metabolism: Defects 3. Sarkar AK, Ghosh T, Chowdhury T, Saha in Metabolism of Carbohydrates. In: Nel G, Sanda R. Glycogen storage disease (Type son Text Book of Pediatrics, 13th edn. Eds. III). Indian Pediatr 1991, 28: 1058-1061. Behrman RE, Vaughan VC, Nelson WE, Phi'adelphia, W.B. Saunders Co, 1987, pp 4. Kalta V, Arya LS, Nayak NC. Glycogen 277-357. storage disease (Type IV): A familial cir- rhosis diagnosed by electron microscopy. 2. Singh M, Fazal MI, Tana I, Arya LS, Goel Indian Pediatr 1980, 17: 625-627. 236 .
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