Transcript Congenital Horizontal Gaze Palsy Progressive Scoliosis

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Congenital Horizontal Gaze Palsy,
Progressive Scoliosis
Brain MRI in a 13 year old girl with HGPPS revealed:
1. A hypoplastic pons in which the posterior two-thirds were split
into two halves by a midsagittal cleft extending ventrally from
the fourth ventricular floor, generating a split pons sign on axial
images.
2. The facial colliculi were absent, and the fourth ventricular floor
was tent shaped.
3. The medulla was also hypoplastic and showed a butterfly
configuration.
4. The inferior olivary nuclei were prominent with respect to the
pyramids, and the prominence of the gracile and cuneate
nuclei on the posterior aspect of the medulla was absent.
Figure 1. MR images obtained in a 13-year-old girl with early-onset thoracolumbar
scoliosis.
A. Sagittal T1-weighted image (500/12(TR/TE)) of the brain shows depression of
the floor of the fourth ventricle (arrowhead). The pons and medulla oblongata have
a reduced volume.
Figure 1B. Axial T2-weighted image (4500/120) at the level of the medulla
oblongata shows rectangular configuration of the medulla. The floor of the
fourth ventricle is tent shaped (arrows), with missing prominence of the
cuneate and gracile nuclei. The inferior olivary nuclei (IO) are prominent with
respect to the pyramids (P).
Figure 1C. Axial T2-weighted image (4500/120) at the level of the pons shows
absence of the facial colliculi, with tent shaped configuration of the floor of the
fourth ventricle (arrows). A deep midsagittal cleft extends ventrally from the
fourth ventricular floor, producing the split pons sign (arrowhead).
Figure 2. MRI of the spine showing prominent scoliosis
Courtesy Andrea Rossi, M.D.
Department of Pediatric Neuroradiology, Genoa Italy
Congenital Horizontal Gaze Palsy with
Progressive Scoliosis (HGPPS)
Mutation ROBO 3 Gene/Chromosome 11q23-q25
Congenital Cranial Disinnervation Syndrome
Eye Movements
Horizontal Gaze Palsy
Horizontal Vestibular Ocular Reflex Absent
Esotropia
Preservation of Convergence
Normal Vertical Gaze
Head Saccades
Etiology
HGPPS is one of several genetic disorders of eye and lid control
that are believed to result from cranial nuclear maldevelopment.
Among these entities, the most closely related to HGPPS are:
1. Duane retraction syndrome and
2. Mobius syndrome.
Maldevelopment of the abducens nucleus plays a crucial role in
the pathogenesis of both these entities, as well as of HGPPS.
Congenital Cranial Disinnervation Syndrome
Features:
Present at birth
Usually non-progressive
Have an autosomal inheritance pattern, that may occur
sporadically
May result from primary disinnervation, i.e. failed or
misguided development of neurons or from aberrant
innervation during development (i.e. secondary
disinnervation).
References
Bosley TM, Salih MA, Jen JC, et al. Neurologic features of horizontal gaze
palsy and progressive scoliosis with mutations in ROBO3. Neurology.
2005;64:1196-1203.
Engle EC, Leigh RJ. Genes, brainstem, development and eye movements.
Neruology 2002;59:304-305.
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.
Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt
hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun
4;304(5676):1509-1513.
Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati P. MR imaging of
brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.
AM J Neuroradiol. 2004;25:1046-1048.
Acknowledgement
Figure 1A-C are published with permission.
Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati
P. MR imaging of brain-stem hypoplasia in horizontal
gaze palsy with progressive scoliosis. AM J Neuroradiol.
2004;25:1046-1048.
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