MR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis

We report the case of a child with horizontal gaze palsy, pendular nystagmus, and discrete thoracolumbar scoliosis. MR imaging of the brain depicted pons hypoplasia with an absence of the facial colliculi, hypoplasia, butterfly configuration of the medulla, and the presence of a deep midline pontine cleft (split pons sign). These MR imaging findings suggest familial horizontal gaze palsy with progressive kyphoscoliosis, a rare congenital disorder. To the best of our knowledge, MR imaging findings of only 4 similar cases, with or without progressive idiopathic scoliosis, have been reported. We discuss the pathogenesis substratum of this entity. Early recognition of this rare entity is important if supportive therapeutic measures in progressive scoliosis are to be applied.     

A case of horizontal gaze palsy with progressive scoliosis

Horizontal gaze palsy with progressive scoliosis is a rare entity with few cases in the literature. Despite the fact the patient will not present with typical symptoms of this syndrome, clinical suspicion should be raised particularly in terms of imaging findings. Imaging findings are characteristic to flag the possibility of this syndrome. Keeping in mind such congenital abnormalities on magnetic resonance imaging particularly for radiologists might help in the management process. Multidisciplinary teams play a crucial role in terms of communication to find the clinical, radiological and genetic studies to reach the diagnosis.Keywords: Horizontal gaze palsy with progressive scoliosis, ROBO3 gene, Magnetic resonance imaging     

Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

Introduction Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disease due to a mutation in the ROBO3 gene. This rare disease is of particular interest because the absence, or at least reduction, of crossing of the ascending lemniscal and descending corticospinal tracts in the medulla predicts abnormal ipsilateral sensory and motor systems. Methods We evaluated the use of functional magnetic resonance imaging (fMRI) for the first time in this disease and compared it to diffusion tensor imaging (DTI) tractography and neurophysiological findings in the same patient with genetically confirmed ROBO3 mutation. Results As expected, motor fMRI, somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP) were dominantly ipsilateral to the stimulation side. DTI tractography revealed ipsilateral ascending and descending connectivity in the brainstem yet normal interhemispheric connections in the corpus callosum. Auditory fMRI revealed bilateral auditory activation to monaural left-sided auditory stimulation. No significant cortical activation was observed after monaural right-sided stimulation, a hearing defect having been excluded. Prosaccades fMRI showed no activations in the eye-movement network. Conclusion Motor fMRI confirmed the established findings of DTI and neurophysiology in the same patient. In suspected HGPPS, any technique appears appropriate for further investigation. Auditory fMRI suggests that a monaural auditory system with bilateral auditory activations might be a physiological advantage as compared to a binaural yet only unilateral auditory system, in analogy to anisometropic amblyopia. Moving-head fMRI studies in the future might show whether the compensatory head movements instead of normal eye movements activate the eye-movement network.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

先天性水平注视麻痹伴脑干发育不良一例

患者男,6岁,双眼轻度斜视、眼球运动不灵活6年.患者自发病以来,无恶心、呕吐,无大小便失禁,智力正常.体检:视力正常,双眼向内侧轻度斜视,双眼可上转及下转,不能水平转动,无眼球震颤;神志清楚,语言流利,无面瘫、舌瘫,四肢肌力、肌张力正常,病理征阴性,胸腰段脊柱轻度侧弯.     

MR imaging in progressive supranuclear palsy and Shy-Drager syndrome

Previous reports have suggested that putaminal hypointensity in T2-weighted images at high field strength (1.5 T) magnetic resonance (MR) is a common finding in atypical parkinsonian syndromes, including progressive supranuclear palsy (PSP) and Shy-Drager syndrome (SDS). We have reviewed nine patients with PSP and five with SDS, selected on strict clinical criteria. Only in one PSP patient was abnormal signal intensity (putaminal hypointensity more marked than pallidal) found. However, hypointensity was often marked in the substantia nigra and occasionally in the superior colliculi. Focal midbrain atrophy, involving particularly the upper part of the quadrigeminal plate, was obvious in five cases. In general there was no uniformity of findings and MR appears unable to consistently support the clinical diagnosis of PSP. In SDS patients the findings were more uniform, with hypointensity in the putamen, superior or equal to that of the pallidum. At low or intermediate field strength, there was absence of magnetic susceptibility effect in the putamen, which appeared hyperintense. This was probably because of increased water content due to gliosis and/or cell loss. The constancy of the MR findings in our SDS series suggests a supportive diagnostic role for MR imaging.     

Childhood scoliosis: MR imaging

The spinal cords of 28 scoliosis patients between the ages of 1 month and 17 years were examined with magnetic resonance (MR) imaging. Complete visualization was obtained in all cases. In 15 patients (53%) neuropathologic abnormalities demonstrated by MR imaging significantly affected their clinical course, including tethered cords (n = 7), syringomyelia (n = 5), Arnold-Chiari I malformation (n = 4), spinal cord tumors (n = 2), Arnold-Chiari II malformation (n = 3), and diastematomyelia (n = 1). The advantages of MR imaging in the evaluation of the scoliotic spine in children include a high sensitivity for the occult conditions associated with scoliosis, good anatomic demonstration of the cord, and absence of bone artifacts. MR imaging is recommended as a primary imaging modality in scoliosis, following conventional radiography.     

MR imaging in progressive multifocal leukoencephalopathy

The MR imaging appearance of progressive multifocal leukoencephalopathy is described in four cases that were confirmed by brain biopsy. Characteristic aspects are long T1 and long T2 lesions limited to white matter. At first the lesions are round or oval, then confluent and large. There is no mass effect. The involvement is most often asymmetric and distant from the periventricular region. The differential diagnosis includes other diseases affecting white matter: demyelination, infarction, infection, and tumors.