Malingering and factitious disorder (Münchausen-syndrome) can be mitochondrial

Abstract

Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum, muscle, bone marrow, kidneys, and the endocrine glands. Myopathy showed up as myalgia, easy fatigability, ptosis, and abnormal muscle biopsy. Endocrine involvement manifested as short stature and thyroid dysfunction. Involvement of the kidneys manifested as mild Fanconi syndrome. Bone marrow affection resulted in iron-deficient, chronic anemia with elevated transferrin. Cerebral manifestations included epilepsy with rare epileptic and frequent psychogenic seizures, and malingering and factitious disorder (Münchausen-syndrome). Cerebral magnetic resonance imaging was normal. Since malingering-disorder dominated the phenotype, the patient was in the majority of the cases not taken seriously, resulting in 175 hospital admissions over 20 years, repeated expensive diagnostic work-ups and huge amount of avoidable interventions. MIDs also manifest as malingering personality disorder (Münchausen-syndrome) but normal cerebral imaging. Management of such patients could be difficult for institutions not familiar with MIDs and facilitated and improved if these patients are taken seriously and treated at departments particularly dedicated to handle MIDs.