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[Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)]
1Innere Medizin II (Allgemeine Klinische und Psychosomatische Medizin), Universität Heidelberg.
History And Admission Findings:
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.
Investigations:
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.
Treatment And Course:
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.