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Original Paper

Elevated Head Circumference-to-Height Ratio Is an Early and Frequent Feature in Children with Neurofibromatosis Type 1

Karvonen M.a, b · Saari A.a · Hannila M.-L.a · Lönnqvist T.c · Dunkel L.d · Sankilampi U.b

Author affiliations

aDepartment of Pediatrics, School of Medicine, University of Eastern Finland and bDepartment of Pediatrics, Kuopio University Hospital, Kuopio, and cDepartment of Paediatric Neurology, Helsinki University Central Hospital and Helsinki University, Helsinki, Finland; dCentre for Endocrinology, William Harvey Research Institute, Barts and the London, Queen Mary University of London, London, UK

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Horm Res Paediatr 2013;79:97-102

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 21, 2012
Accepted: January 14, 2013
Published online: February 27, 2013
Issue release date: March 2013

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP

Abstract

Background/Aims: Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1. Methods: Retrospective analysis of growth and health data of 80 NF1 patients aged 0-7 years was performed. The incidence and diagnostic accuracy of elevated HCHR for NF1 was analyzed using receiver operating characteristic curves. Results: The median age when the first elevated (≥2.0 SDS) HCHR value was detected was 0.3 years (range 0.0-5.3). At the median age of diagnosis (3.6 years), 53.8% of NF1 children exhibited elevated HCHR. The diagnostic accuracy of HCHR alone was 0.78 (95% CI 0.72-0.84), but in comparison with the seven National Institutes of Health diagnostic criteria for NF1, elevated HCHR was the second most prevalent feature. Conclusion: Elevated HCHR is an early and frequent feature in NF1 children. Taking HCHR into account would facilitate the early detection of NF1.

© 2013 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 21, 2012
Accepted: January 14, 2013
Published online: February 27, 2013
Issue release date: March 2013

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP


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