[Unusual course of alpha-mannosidosis with symptoms of paranoid-hallucinatory psychosis]

Abstract

We report the case of a 27-year-old female with recurrent paranoid-hallucinatory episodes who was initially diagnosed as suffering from schizophrenic psychosis. After 10 years of treatment under this diagnosis, alpha-mannosidosis was identified to be the underlying cause of her psychiatric symptoms. alpha-Mannosidosis is a rare autosomal recessive lysosomal storage disorder associated with decreased activity of the enzyme mannosidase. In the present case, diagnosis was made late in the illness after failure of a response to antipsychotic treatment and with the patient additionally showing progressive cognitive decline. Only after extensive investigation was the diagnosis made by showing decreased alpha-mannosidase enzyme activity in serum and blood leukocytes. This case demonstrates that an unusual clinical course or striking symptom patterns, especially in association with somatic comorbidity, in psychotic patients should lead to diagnostic consideration of inherited metabolic disease.