Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for FREE ACCESS to this landmark database

Click here to sign up for SAGE Journal Email Alerts today!
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Kulikova-Schupak, R.
Right arrow Articles by Patterson, M. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kulikova-Schupak, R.
Right arrow Articles by Patterson, M. C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Rectal Biopsy in the Diagnosis of Neuronal Intranuclear Hyaline Inclusion Disease

Romana Kulikova-Schupak, MD

Division of Pediatric Neurology, Columbia University New York, New York

Kelly G. Knupp, MD

Division of Pediatric Neurology, Columbia University New York, New York

Juan M. Pascual, MD, PhD

Division of Pediatric Neurology, Columbia University New York, New York

Steven S. Chin, MD, PhD

Department of Neuropathology, Columbia University New York, New York

Ram Kairam, MD

Department of Pediatrics, Bronx-Lebanon Hospital Center Bronx, New York

Marc C. Patterson, MD

Division of Pediatric Neurology Columbia University New York, New York, mcp73{at}columbia.edu.

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. (J Child Neurol 2004; 19:59—62).

Journal of Child Neurology, Vol. 19, No. 1, 59-62 (2004)
DOI: 10.1177/08830738040190010707
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 NeurologyHome page
J. Sone, N. Hishikawa, H. Koike, N. Hattori, M. Hirayama, M. Nagamatsu, M. Yamamoto, F. Tanaka, M. Yoshida, Y. Hashizume, et al.
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy
Neurology, November 22, 2005; 65(10): 1538 - 1543.
[Abstract] [Full Text] [PDF]