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Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder

Vacuolated myopathy: Biopsy of the patient’s deltoid muscle on a hematoxylin-eosin stain showing intracytoplasmic vacuoles.

Based on an article in JGIM in 2009 by Patel and DePriest.

A 66-year-old male presented with visual hallucinations. He had chronically elevated serum creatine kinase (CK) levels without muscle weakness. The patient had a two-year history of depression marked by decreased appetite, inability to concentrate and memory problems. He was diagnosed as having depression with psychotic features and was admitted to the inpatient psychiatry service for further evaluation. To evaluate the elevated CK levels a nerve conduction test / electromyography was done. This showed evidence of myopathy. On the fourth morning the patient was found to be acutely unresponsive, even to painful stimuli. He had shallow respirations at a rate of 14/min. Arterial blood gases (ABG) obtained showed a PCO2 of 116. He was intubated and sent to the intensive care unit (ICU) to be placed on mechanical ventilation. Four days after ICU admission the deltoid muscle and the sural nerve were biopsied and were sent for histopathological analysis. ‘vacuolated myopathy - probable acid maltase deficiency disorder’ (low acid maltase levels, 0.57 micromol/min/gram1.74-9.98, confirming the diagnosis of primary acid maltase deficiency.  The patient received enzyme replacement therapy, and has shown clinical improvement. Since he has been on mechanical ventilation the patient’s visual hallucinations have completely resolved.

The answer to the question posed in the poll is mentioned in the original article by Patel and DePriest is available here