[Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)].
METHODS
A 29-year-old woman had since early childhood been smaller and thinner than her contemporaries. Her weight was now 36.5 kg, height 158 cm. Anorexia nervosa being suspected she was to be admitted to a psychosomatic clinic. A few days before the date she developed respiratory failure which required mechanical ventilation for a month. Physical examination revealed markedly reduced musculature.


METHODS
Muscle biopsy and fibroblast culture indicated acid maltase deficiency (glycogen storage disease Type II [Pompe's disease]). Lung functions were markedly reduced, blood gas analysis revealing global respiratory insufficiency.


METHODS
Intermittent patient-controlled ventilation (at night by intermittent positive pressure ventilation) clearly improved both her general condition and blood gases.


CONCLUSIONS
Acid maltase deficiency should be included as a possible cause of the differential diagnosis of anorexia nervosa. This diagnosis should strictly follow the criteria listed in ICD-10 (International Classification of Diseases), but also after exclusion of other causes.
Fischer
P
P
Innere Medizin II (Allgemeine Klinische und Psychosomatische Medizin), Universität Heidelberg.
Eich
W
W
Haass
M
M
Herzog
W
W
D000328:Adult; D000856:Anorexia Nervosa / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D001706:Biopsy; D002908:Chronic Disease; D003937:Diagnosis, Differential; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007385:Intermittent Positive-Pressure Ventilation; D009132:Muscles / Q000473:pathology; D011602:Psychophysiologic Disorders / Q000175:diagnosis; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000628:therapy