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Familial Horizontal Gaze Palsy With Progressive Scoliosis
Pediatric Neurology xxx (2016) 1e2
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Familial Horizontal Gaze Palsy With Progressive Scoliosis Mohammad Rohani MD a, Mostafa Almasi MD a, *, Mostafa Soltan Sanjari MD b a b
Faculty of Medicine, Department of Neurology, Iran University of Medical Sciences, Tehran, Iran Faculty of Medicine, Department of Ophthalmology, Iran University of Medical Sciences, Tehran, Iran
This 17-year-old girl was admitted to our hospital for scoliosis surgery. On neurological examination, there was prominent bilateral horizontal gaze palsy with normal vertical eye movements, convergence, pupillary reflexes, and facial expression (Figs 1 and 2). Brain magnetic resonance imaging showed atrophy of medulla and pons with a butterfly shaped medulla and tented pons. The whole spine x-ray revealed severe scoliosis (Fig 3). The clinical data including history, physical examination, and imaging findings were typical for familial horizontal gaze palsy with progressive scoliosis. The corrective surgery for scoliosis was conducted but the patient was unfortunately lost to follow-up and genetic studies could not be performed. Familial horizontal gaze palsy with progressive scoliosis characterizes a rare autosomal recessive disorder. It maps to chromosome 11q23-25 and the involved gene is ROBO3. This gene encodes an axon-guidance protein, which is responsible for midline crossing of neurons in medulla.1,2 In addition to hypoplasia of abducens nucleus, the corticospinal and posterior column-medial lemniscus pathways fail to cross the midline at the level of the medulla.3 Failure of crossing of spinal cord commissural axons may be the cause of progressive scoliosis.4 Horizontal gaze palsy typically begins from birth followed by progressive scoliosis in early childhood. On neuroimaging, there is medullary and pontine atrophy with a deep anterior and posterior notch and hypoplasia of facial colliculi.1
References 1. Jen J, Coulin CJ, Bosley TM, et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002;59:432-435. There is no sponsorship or funding for this article.
* Communications should be addressed to: Almasi; Neurology Ward; Rasool Akram Hospital; Niayesh Street; Sattar-khan Street; Tehran, Iran. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2016 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.021
FIGURE 1. The picture shows paralysis of the gaze to the left and right sides (B and C, respectively) and normal upward and downward gaze (A and D, respectively). (The color version of this figure is available in the online edition.)
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M. Rohani et al. / Pediatric Neurology xxx (2016) 1e2
FIGURE 2. The picture shows paralysis of horizontal gaze to the left side. The video related to this figure can be found at http://dx.doi.org/10.1016/j. pediatrneurol.2016.08.021. (The color version of this figure is available in the online edition.)
2. Butcher J. Mutations in ROBO3 cause HGPPS. Lancet Neurol. 2004;3: 328. 3. Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004;304:1509-1513. 4. Sabatier C, Plump AS, Le Ma, et al. The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons. Cell. 2004; 117:157-169.
FIGURE 3. Anteroposterior view of x-ray shows severe scoliosis.
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Familial Horizontal Gaze Palsy With Progressive Scoliosis Mohammad Rohani MD a, Mostafa Almasi MD a, *, Mostafa Soltan Sanjari MD b a b
Faculty of Medicine, Department of Neurology, Iran University of Medical Sciences, Tehran, Iran Faculty of Medicine, Department of Ophthalmology, Iran University of Medical Sciences, Tehran, Iran
This 17-year-old girl was admitted to our hospital for scoliosis surgery. On neurological examination, there was prominent bilateral horizontal gaze palsy with normal vertical eye movements, convergence, pupillary reflexes, and facial expression (Figs 1 and 2). Brain magnetic resonance imaging showed atrophy of medulla and pons with a butterfly shaped medulla and tented pons. The whole spine x-ray revealed severe scoliosis (Fig 3). The clinical data including history, physical examination, and imaging findings were typical for familial horizontal gaze palsy with progressive scoliosis. The corrective surgery for scoliosis was conducted but the patient was unfortunately lost to follow-up and genetic studies could not be performed. Familial horizontal gaze palsy with progressive scoliosis characterizes a rare autosomal recessive disorder. It maps to chromosome 11q23-25 and the involved gene is ROBO3. This gene encodes an axon-guidance protein, which is responsible for midline crossing of neurons in medulla.1,2 In addition to hypoplasia of abducens nucleus, the corticospinal and posterior column-medial lemniscus pathways fail to cross the midline at the level of the medulla.3 Failure of crossing of spinal cord commissural axons may be the cause of progressive scoliosis.4 Horizontal gaze palsy typically begins from birth followed by progressive scoliosis in early childhood. On neuroimaging, there is medullary and pontine atrophy with a deep anterior and posterior notch and hypoplasia of facial colliculi.1
References 1. Jen J, Coulin CJ, Bosley TM, et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002;59:432-435. There is no sponsorship or funding for this article.
* Communications should be addressed to: Almasi; Neurology Ward; Rasool Akram Hospital; Niayesh Street; Sattar-khan Street; Tehran, Iran. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2016 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.021
FIGURE 1. The picture shows paralysis of the gaze to the left and right sides (B and C, respectively) and normal upward and downward gaze (A and D, respectively). (The color version of this figure is available in the online edition.)
2
M. Rohani et al. / Pediatric Neurology xxx (2016) 1e2
FIGURE 2. The picture shows paralysis of horizontal gaze to the left side. The video related to this figure can be found at http://dx.doi.org/10.1016/j. pediatrneurol.2016.08.021. (The color version of this figure is available in the online edition.)
2. Butcher J. Mutations in ROBO3 cause HGPPS. Lancet Neurol. 2004;3: 328. 3. Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004;304:1509-1513. 4. Sabatier C, Plump AS, Le Ma, et al. The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons. Cell. 2004; 117:157-169.
FIGURE 3. Anteroposterior view of x-ray shows severe scoliosis.