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
Pediatric Neurology – Elsevier
Published: Mar 1, 2018
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