Neuronal Intranuclear Inclusion Disease

Longitudinal Case Report of Motor and Nonmotor Symptoms

Jennifer Vermilion, Mahlon Johnson, Jayasri Srinivasan, Jonathan W. Mink

Research output: Contribution to journalArticle

Abstract

Neuronal intranuclear inclusion disease is a rare, neurodegenerative disorder with onset in childhood. We report a single case natural history over 10 years and present a review of juvenile parkinsonism and neuronal intranuclear inclusion disease. Our patient was initially seen at the University of Rochester at age 12 years after 4 years of progressive dysarthria, dysphagia, and clumsiness. His neurologic examination was notable for parkinsonism. He had excellent initial response to levodopa, but subsequently developed dopa-induced motor fluctuations, dyskinesias, psychosis, and dystonia. Later in the course, he developed multiple nonmotor symptoms and ultimately died from respiratory failure. Neuropathology demonstrated large eosinophilic nuclear inclusions and small ubiquitin-related modifier 1 (SUMO-1) immunoreactivity, confirming the diagnosis of neuronal intranuclear inclusion disease. This diagnosis should be considered in a patient presenting with juvenile parkinsonism. Clues to the diagnosis include early-onset dopa-induced dyskinesias, gastrointestinal dysfunction, and oculogyric crises.

Original languageEnglish (US)
JournalJournal of child neurology
DOIs
StatePublished - Jan 1 2019

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Parkinsonian Disorders
Dihydroxyphenylalanine
Dyskinesias
Intranuclear Inclusion Bodies
Dysarthria
Dystonia
Neurologic Examination
Levodopa
Deglutition Disorders
Ubiquitin
Natural History
Respiratory Insufficiency
Neurodegenerative Diseases
Psychotic Disorders
Neuronal intranuclear inclusion disease

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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Neuronal Intranuclear Inclusion Disease : Longitudinal Case Report of Motor and Nonmotor Symptoms. / Vermilion, Jennifer; Johnson, Mahlon; Srinivasan, Jayasri; Mink, Jonathan W.

In: Journal of child neurology, 01.01.2019.

Research output: Contribution to journalArticle

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