Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report

Psychiatric symptoms can occur early in the course of neurodegenerative metabolic conditions like Kufs' disease. This report is an illustration of a case where the diagnosis was considered primarily psychiatric till MRI (magnetic resonance imaging) of the brain was found abnormal.

A case of adult neuronal ceroid lipofuscinosis (NCL) or Kufs' disease in a 24 year old white female who presented with phobic symptoms, behavioral changes, thought disorder and depressed mood prior to the onset of seizures is reported. She was referred to psychiatry for further treatment. We report the various features of the case including the peculiar finding in the MRI of the head.

The MRI finding was unique in that it revealed extensive cortical gray matter lesions. This finding led to further investigations. Kufs' disease was diagnosed following a brain biopsy. The MRI finding is noteworthy because it is not typical of previously published cases. The patient was treated with tegretol mainly to control seizures. The overall prognosis seemed poor since patient showed break through seizures in two months.

Clinicians should consider neurological or medical conditions and pursue further investigations in psychiatric patients when they concurrently or later develop subtle neurologic symptoms, idiopathic seizures or cognitive deficits.