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Glycogenosis
Author(s) -
KARLSTROÜM Dr. FRITZ
Publication year - 1938
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1938.tb03671.x
Subject(s) - medicine , etiology , pathological , glycogen , differential diagnosis , autopsy , disease , pathogenesis , glycogen storage disease , pathology , pediatrics
SUMMARY Description of a case of glycogenosis in a boy barely one year old. The signs characteristic of this disease, especially enlargement of the liver and disturbance of carbohydrate metabolism, were present to a striking degree. In addition to the usual examinations in cases of glycogenosis liver puncture was done and provided valuable information. The patient in question died and was autopsied, and the gross and microscopic findings were typical of glycogenosis. Chemical analysis of a number of organs showed that they were rich in glycogen 16 hours after death. On account of the lack of normal standards, it is, however, impossible to be certain whether the glycogen content was pathologically elevated. The microscopic and chemical findings together do, however, strongly suggest that such was the case. A further case is described with tremendous enlargement of the liver in an infant of about 6 months. Aside from the large liver, nothing pathological could be found. It is suspected that this patient also suffered from glycogenosis, and that most of the symptoms had not yet come to light on account of the age. The earlier cases of glycogenosis in the literature are reviewed and a summary is given of the symptoms, course, differential diagnosis, pathogenesis and etiology.