Heterozygous Niemann-Pick disease type C presenting with tremor

Abstract

Tremor is defined as rhythmic oscillation of a body part. The differential diagnosis of tremor is extensive; however, when there is a family history of tremor, the diagnosis most likely will be essential tremor. We describe a woman who sought treatment for tremor, had a family history of tremor, and was found to have a unique diagnosis. A 75-year-old woman was referred to the neurology department with a 10-year history of tremor, initially a side-to-side head tremor. Five years after onset, her tremor had progressed, involving her right hand and 1 year later, the left. The tremor in her upper extremities predominantly occurred at rest; however, she also stated that occasionally she would experience a tremor in her hands while holding a cup of coffee or a deck of cards. She carried a diagnosis of Parkinson disease, but her tremor did not improve with 1,000 mg of l-dopa/carbidopa therapy, which …