Ataxia With Hypodontia: A Unique Leukodystrophy

Ataxia With Hypodontia: A Unique Leukodystrophy Pediatric Neurology 80 (2018) 94–95 Contents lists available at ScienceDirect Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu Visual Diagnosis a b, Amanda D. Currie BS , Swati A. Karmarkar MD * College of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee Department of Neurology, LeBonheur Children’s Hospital, Memphis, Tennessee This six-year-old girl presented with poor coordination, balance, and learning difficulties. She met her early devel- opmental milestones except for delayed walking at 21 months. On examination, she was missing primary maxil- lary incisors, which never developed (Fig 1). Neurological examination was notable for hyperactivity, decreased at- tention, dysarthria, vertical gaze palsy, mild dysmetria, and wide-based ataxic gait (Fig 2). Because of partial absence of primary teeth and the observed truncal and appendicular ataxia, hypomyelination, hypodontia, and hypogonadotrophic hypogonadism (4H syndrome) was suspected. Magnetic resonance imaging showed diffuse bilateral white matter abnormality with moderate cerebellar vermian atrophy. Genetic testing for POLR III mutations revealed com- pound heterozygosity in POLR3B, confirming the diagnosis of 4H syndrome. This patient is prepubertal and has not yet manifested clinical or laboratory signs of hypogonadism but is being followed by an endocrinologist. Discussion 4H syndrome is a rare, progressive leukodystrophy as- FIGURE 1. Physical findings of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Neurology Elsevier

Ataxia With Hypodontia: A Unique Leukodystrophy

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Publisher
Elsevier
Copyright
Copyright © 2017 Elsevier Inc.
ISSN
0887-8994
D.O.I.
10.1016/j.pediatrneurol.2017.06.013
Publisher site
See Article on Publisher Site

Abstract

Pediatric Neurology 80 (2018) 94–95 Contents lists available at ScienceDirect Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu Visual Diagnosis a b, Amanda D. Currie BS , Swati A. Karmarkar MD * College of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee Department of Neurology, LeBonheur Children’s Hospital, Memphis, Tennessee This six-year-old girl presented with poor coordination, balance, and learning difficulties. She met her early devel- opmental milestones except for delayed walking at 21 months. On examination, she was missing primary maxil- lary incisors, which never developed (Fig 1). Neurological examination was notable for hyperactivity, decreased at- tention, dysarthria, vertical gaze palsy, mild dysmetria, and wide-based ataxic gait (Fig 2). Because of partial absence of primary teeth and the observed truncal and appendicular ataxia, hypomyelination, hypodontia, and hypogonadotrophic hypogonadism (4H syndrome) was suspected. Magnetic resonance imaging showed diffuse bilateral white matter abnormality with moderate cerebellar vermian atrophy. Genetic testing for POLR III mutations revealed com- pound heterozygosity in POLR3B, confirming the diagnosis of 4H syndrome. This patient is prepubertal and has not yet manifested clinical or laboratory signs of hypogonadism but is being followed by an endocrinologist. Discussion 4H syndrome is a rare, progressive leukodystrophy as- FIGURE 1. Physical findings of

Journal

Pediatric NeurologyElsevier

Published: Mar 1, 2018

References

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