Acid maltase deficieny (glycogen storage disease type II [Pompe's disease]) as a differential diagnosis of anorexia nervosa

History and admission findings. A 29-year-old woman had since early childho od 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 admitte d to a psychosomatic clinic. A few days before the date she developed respi ratory failure which required mechanical ventilation for a month, Physical examination revealed markedly reduced musculature. Investigations: Muscle biopsy and fibroblast culture indicated acid maltase deficiency (glycogen storage disease typ II [Pompe's disease]). Lung funct ions were markedly reduced, blood gas analysis revealing global respiratory insufficiency. Treatment and course: Intermittent patient-controlled ventilation (at night by intermittent positive pressure ventilation) clearly improved both her g eneral condition and blood gases. Conclusions:Acid maltase deficiency should be included as a possible cause in the differential diagnosis of anorexia nervosa. This diagnosis should st rictly follow the criteria listed in ICD-10 (International Classification o f Diseases), but also after exclusion of other causes.