Nina Long1, Niki Maki2, Danielle Feng3, Kimberly Pargeon1
1Harbor-UCLA Medical Center, 2Harbor UCLA, 3Harbor UCLA Medical Center
Objective:
Neuronal ceroid lipofusinoses (NCLs) are a class of rare, fatal, inherited disorders due to genetic mutations that affect lysosomal function. Most forms begin in childhood. Adult-onset variants are even rarer and less documented. There have been few cases following the clinical progression and challenges of properly diagnosing these specific patient populations.
Background:
This case highlights VM, a 33 year old female, who presented with epilepsy, psychiatric symptoms, and progressive functional and cognitive decline. Seizures began 5 years ago, presenting as intermittent facial twitching, progressing to generalized tonic clonic within one year. Concurrently, VM was displaying aggressive behavior and delusional thoughts. There was concern for autoimmune/limbic encephalitis but panels were negative and she had no response to immunotherapy. Additional diagnostic studies included extended and continuous EEGs, brain MRIs which were untelling. Admission for long term EEG monitoring suggested psychogenic nonepileptic seizures. She developed myoclonus later on which suggested a different diagnosis. There was delay with obtaining genetic testing but a comprehensive genetic screening was consistent with Kufs Disease Type A due to a mutation on CLN6 gene. VM’s clinical course continued to decline with subsequent hospital admissions and her seizures were resistant to multiple medications. Her psychiatric symptoms were also resistant to multiple treatments. Given the genetic results and rapid progression of her disease, the decision was made to pursue hospice and the patient passed away after one year.
Design/Methods:
Not applicable
Conclusions:
Kufs disease Type A, caused by a mutation in CLN6 gene, has an adult onset, usually showing signs in early adulthood including epilepsy, progressive loss of coordination and cognitive decline. VM's clinical presentation was suggestive of this rare condition but was also complicated by neurological manifestations throughout her clinical course.