J Gen Intern Med. 2009 May;24(5):683-6. doi: 10.1007/s11606-009-0923-y. Epub 2009 Feb 28.

Visual hallucinations in a patient with adult onset acid maltase deficiency disorder.

Patil R1, Depriest JL.

• 1Department of Internal Medicine, Temple University/Conemaugh Valley Memorial Medical Center, 1086 Franklin Street, Johnstown, PA 15905, USA. drriteshpatil@yahoo.co.in

Abstract

A 66-year-old male presented with visual hallucinations. He had chronically elevated serum creatine kinase (CK) levels without muscle weakness. His hospital course was complicated by hypercapnic respiratory failure requiring mechanical ventilation. His hallucinations completely subsided on mechanical ventilation. Elevated CK levels prompted a muscle biopsy, which showed myopathy consistent with acid maltase deficiency disorder (AMDD). This is the first reported case of adult onset AMDD presenting with psychiatric symptoms. Our objective in reporting this case is to encourage early recognition of neuromuscular respiratory failure in AMDD and to reinforce that respiratory failure may develop without associated extremity muscle weakness.

PMID:

19252955