Neuropsychiatric and behavioural manifestation in a rare lysosomal storage disorder (Fabry's Disease): A case study

Abstract

Introduction

Case presentation of a young woman Ms. SH, with neuropsychiatric presentation in a rare Lysosomal Storage Disorder (Fabry's disease).

Case report

A 19-year-old female with Fabry's disease (FD) presented initially with symptoms of obsessions of dirt and contamination and compulsions of washing and also with overvalued persecutory ideas of being followed. Since the age of 14, she had suffered from various psychiatric symptoms increasing in frequency and intensity. Routine examinations including cognitive testing, electroencephalography and structural magnetic resonance imaging revealed no pathological findings. During the course of a year, her OC symptoms improved significantly with the use of Fluoxetine 40 mg mane. However, she then became more depressed and psychotic (despite continuing on Fluoxetine). Addition of Risperidone (gradually increased to 2 mg nocte) led to attenuation of her symptoms and she recovered completely over a course of another 6 months.

Discussion

Mental and behavioural symptoms in Fabry Disease symptoms usually begin during late childhood or adolescence but may not become apparent until the second or third decade of life. Early symptoms include episodes of severe burning pain in the hands and feet and skin lesions. The psychiatric manifestations can be varied, e.g. the index patient, initially presented with what appeared like an Obsessive Compulsive disorder but later as a depressive illness (Muller et al,. 2006) with psychotic symptoms.

Conclusions

To showcase mental and behavioural symptoms associated with a rare disorder like Fabry's disorder and treatment options may be helpful.

Disclosure of interest

The author has not supplied his declaration of competing interest.