Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease

Romana Kulikova-Schupak, Kelly G. Knupp, Juan M. Pascual, Steven S. Chin, Ram Kairam, Marc C. Patterson

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Neuronal intranuclear hyaline inclusion disease is a neurodegenerative disorder of childhood characterized by eosinophilic intranuclear inclusions and neuronal loss throughout the nervous system. Although most cases have been diagnosed postmortem, rectal biopsy may be diagnostic during life. We identified two patients: an 11-year-old boy (P1) with new-onset bulbar weakness and parkinsonism and a 15-year-old boy (P2) with severe cognitive and motor deterioration of uncertain etiology who presented at 4 years of age with a gait disturbance and motor slowing. Both patients had a history of behavioral problems marked by frequent temper tantrums. Both had nondiagnostic magnetic resonance imaging of the head and metabolic work-ups. Rectal biopsy was diagnostic 1 year (P1) and 11 years (P2) after the initial evaluation. Rectal biopsies should be considered in children presenting with otherwise unexplained multisystem degeneration, particularly in the presence of both upper and lower motoneuron signs accompanied by behavioral problems.

Original languageEnglish (US)
Pages (from-to)59-62
Number of pages4
JournalJournal of Child Neurology
Volume19
Issue number1
StatePublished - Jan 2004
Externally publishedYes

Fingerprint

Hyalin
Biopsy
Intranuclear Inclusion Bodies
Parkinsonian Disorders
Motor Neurons
Gait
Neurodegenerative Diseases
Nervous System
Head
Magnetic Resonance Imaging
Neuronal intranuclear inclusion disease
Problem Behavior

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Kulikova-Schupak, R., Knupp, K. G., Pascual, J. M., Chin, S. S., Kairam, R., & Patterson, M. C. (2004). Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. Journal of Child Neurology, 19(1), 59-62.

Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. / Kulikova-Schupak, Romana; Knupp, Kelly G.; Pascual, Juan M.; Chin, Steven S.; Kairam, Ram; Patterson, Marc C.

In: Journal of Child Neurology, Vol. 19, No. 1, 01.2004, p. 59-62.

Research output: Contribution to journalArticle

Kulikova-Schupak, R, Knupp, KG, Pascual, JM, Chin, SS, Kairam, R & Patterson, MC 2004, 'Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease', Journal of Child Neurology, vol. 19, no. 1, pp. 59-62.
Kulikova-Schupak R, Knupp KG, Pascual JM, Chin SS, Kairam R, Patterson MC. Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. Journal of Child Neurology. 2004 Jan;19(1):59-62.
Kulikova-Schupak, Romana ; Knupp, Kelly G. ; Pascual, Juan M. ; Chin, Steven S. ; Kairam, Ram ; Patterson, Marc C. / Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. In: Journal of Child Neurology. 2004 ; Vol. 19, No. 1. pp. 59-62.
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