Bilateral vertical gaze palsy in unilateral mesodiencephalic junction lesion: A case series

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March-April 2013 / Vol 61 / Issue 2

Neurology India • Volume 61 • Issue 2 • March-April 2013 • Pages ??-???

Letters to Editor

MRI findings in ChAc include striatal atrophy (involving the caudate more than the pallidum) and putaminal atrophy.[5] To our knowledge, this is the first report of mineral deposition in a confirmed case of ChAc and the first confirmed case of chorea‑acanthocytosis from India. Recently, Lee et al., reported a paramagnetic substance in susceptibility‑weighted MRI in a case clinically assumed to represent ChAc.[6] Another report by Gautam et al., described radiological findings akin to the ‘eye‑of‑the‑tiger’ sign in a patient presenting with tremors, rigidity, chorea, and one episode of seizure along with peripheral acanthocytosis. Genetic testing was not done for PKAN or for ChAc in this patient.[7] The MRI finding of mineral deposition in our patient raises the question of whether these two phenotypically related but genetically distinct disorders do indeed have a common pathogenic basis. We hypothesize that mutations in VPS13 could lead to enzymatic defects resulting in brain mineral accumulation in these patients, which may prove to be the final common pathway responsible for clinical manifestations in both these neuroacanthocytosis syndromes. Although a plain CT is sufficient to document caudate atrophy, we suggest that susceptibility‑weighted MRI should be done to systematically document mineral deposition in all patients of ChAc to shed light on pathogenesis of this rare disorder. We also recommend that all patients of suspected PKAN with atypical features who have evidence of pallidal mineral deposition on neuroimaging but test negative for PANK2 mutation should be screened for the deficiency of chorein protein in erythrocytes.

Bhavna Kaul, Vinay Goyal, Garima Shukla, Achal Srivastava, Ajay Garg1, Benedikt Bader2, Adrian Danek2, Susan Hayflick3, Madhuri Behari Departments of Neurology, 1Neuroradiology, All India Institute of Medical Sciences, New Delhi, India, 2Neurology Clinic and Polyclinic, Ludwig-Maximilians-University, Munich, Germany, 3 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA E‑mail: [email protected]

References 1. Rampoldi L, Dobson‑Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, et al. A conserved sorting‑associated protein is mutant in chorea‑acanthocytosis. Nat Genet 2001;28:119‑20. 2. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden‑Spatz syndrome. Nat Genet 2001;28:345‑9. 3. Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, et al. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase‑associated neurodegeneration. Ann N Y Acad Sci 2004;1012:282‑98. 4. Chang CL, Lin CM. Eye‑of‑the‑Tiger sign is not pathognomonic of pantothenate kinase‑associated neurodegeneration in adult cases. Brain Behav 2011;1:55‑6. 5. Huppertz HJ, Kroll‑Seger J, Danek A, Weber B, Dorn T, Kassubek J. Automatic striatal volumetry allows for identification of patients with chorea‑acanthocytosis at single subject level. J Neural Tramsm 2008;115:1393‑400. 170

6. Lee JH, Lee SM, Baik SK. Demonstration of striatopallidal iron deposition in chorea‑acanthocytosis by susceptibility‑weighted imaging. J Neurol 2011;258:321‑2. 7. Gautam G, Hashmi M, Pandey A. Neuroacanthocytosis: A rare movement disorder with magnetic resonance imaging. J Neurosci Rural Pract 2011;2:111‑2. Access this article online Quick Response Code:

Website: www.neurologyindia.com PMID: *** DOI: 10.4103/0028-3886.111129

Received: 05‑12‑2012 Review completed: 03‑01‑2013 Accepted: 10‑03‑2013

Bilateral vertical gaze palsy in unilateral mesodiencephalic junction lesion: A case series Sir, Conjugate bilateral vertical gaze palsy (VGP) is a clinical feature of lesions involving the mesodiencephalic junction (MDJ), where anatomical structures for vertical gaze control are located.[1] VGP occurring after unilateral mesodiencephalic lesions has been rarely described.[1‑5] We report three additional patients with strokes at the right MDJ sparing the posterior commissure (PC), and resulting in conjugate bilateral VGP. This case series confirms that a conjugate bilateral combined up‑ and down‑gaze VGP may also occur following a unilateral lesion of MDJ sparing the PC. Clinical features and neuroimaging findings of the patients are reported in the Table 1. The three patients described here presented with acute onset of vertical diplopia and were found to have bilateral conjugate VGP involving both up‑ and down‑gaze. The neural structures and pathways underlying vertical gaze control are yet not fully understood but seem to be largely located in MDJ, rostral mid‑brain reticular formation and pretectal area. They include the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF), the interstitial nucleus of Cajal (INC), the nucleus of Darkschewitsch, and the PC with its nuclei. The riMLF, the INC, and the PC are neural structures of the rostral mid‑brain reticular formation thought to play a relevant role for the control of vertical gaze [Figures 7 and 8]. The riMLF is a wing‑shape nucleus, lying dorsomedial to the red nucleus and rostral to the oculomotor nuclei. It contains the neural generators Neurology India | Mar-Apr 2013 | Vol 61 | Issue 2

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Table 1: Reporting data on patients

Case

Age, gender

Past medical history

Clinical picture on admission

Diagnostic evaluations

Clinical picture at follow‑up

1

60, M

Hypertension; ischemic cardiopathy

Decreased left nasolabial fold with left arm monoparesis and a combined up‑and downgaze VGP palsy involving both voluntary saccades and visually‑guided movements, but sparing the oculocephalic responses. Complains of vertical diplopia, which worsened when looking up or down. Horizontal eye movements (including voluntary saccadic movements) and convergence completely normal

One day after the admission the left‑sided weakness resolved completely, VGP was still present at discharge

2

43, M

Non‑contributory

3

69, M

Hyperlipidemia; hepatic cirrhosis

Neurological examination normal, except for bilateral conjugate upward and downward VGP on voluntary and smooth pursuit movements, with full upward and downward gaze on vertical oculocephalic maneuvers. Horizontal eye movements (including voluntary saccadic movements) and convergence not impaired Bilateral conjugate combined up‑and downgaze VGP palsy involving voluntary saccades and visually‑guided movements, but sparing the oculocephalic responses. Horizontal eye movements (including voluntary saccadic movements) and convergence not impaired

MRI: Recent right medial thalamic ischemic lesion extending to rostral mid‑brain [Figures 1-3] ECG: Normal Laboratory: hyperlipidemia TTE: Normal DS: Mild atheromatous lesions with no significant internal carotid artery stenosis Holter ECG and TTE no evidence of arrhythmias heart or potential cardioembolic pathology MRI: Recent right medial thalamic ischemic lesion extending to rostral mid‑brain [Figures 4 and 5] Laboratory: Normal DS: Normal Transcranial Doppler sonography: Right‑to‑left intracardiac shunt at rest. TTE and TEE: Patent foramen ovale and atrial septal aneurysm CT: Localized hemorrhagic lesion involving rostral mid‑brain [Figure 6]

One week later, the bilateral conjugate upwards and downwards VGP clinically unchanged

One week later, the bilateral conjugate upwards and downwards VGP clinically unchanged

TTE - Trans‑thoracic echocardiography, TEE - Transesophageal echocardiography, DS - Color doppler sonography of the supraaortic vessels, VGP - Vertical gaze palsy, MRI - Magnetic resonance imaging, ECG - Electrocardiogram, CT - Head Computed Tomography

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Figure 1: Brain magnetic resonance imaging, axial FLAIR: Patient 1. Right medial thalamic ischemic lesion (a) extending to rostral mid‑brain; (b) and involving right riMLF and the INC but sparing the PC Figure 3: Brain magnetic resonance imaging, coronal FLAIR: Patient 1. Right medial thalamic ischemic lesion extending to rostral mid‑brain

Figure 2: Picture of patient 2 showing a right trochlear nerve involvement associated with VGP

Neurology India | Mar-Apr 2013 | Vol 61 | Issue 2

for bilateral vertical saccades. Excitatory burst neurons within this nucleus send collaterals to motoneurons supplying yoked muscle pairs of the two eyes. Axon collaterals responsible for upward saccades reach bilaterally the elevator muscles  (superior rectus and inferior oblique), crossing within the oculomotor nucleus, whereas collaterals for downward saccades project only to the ipsilateral inferior rectus and superior oblique 171

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Figure 4: Brain magnetic resonance imaging, axial T2‑weighted images: Patient 2. Right medial thalamic ischemic lesion (a) extending to rostral mid‑brain; (b and c), involving right riMLF and the INC but sparing the PC Figure 5: Brain magnetic resonance imaging, coronal FLAIR and sagittal T1: Patient 2: Right medial thalamic ischemic lesion extending to rostral mid‑brain

Figure 6: Axial CT head scan. Patient 3. Localized small hemorrhagic lesion involving rostral mid‑brain, in the region containing right riMLF and the INC, but sparing the PC

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Figure 7: (a) Brain MRI, axial T2‑weighted images. Normal subject. Transverse section of mid‑brain at level of superior colliculi; (b) Transverse section of mid‑brain at level of superior colliculi (schematic). From (c) Brain MRI, axial T2‑weighted images. Normal subject. Transverse section of mid‑brain at level of mesodiencephalic junction; (d) Brain MRI, axial T2‑weighted images. Normal subject. Transverse section of mid‑brain at diencephalic level. White arrow: Medial longitudinal fasciculus. Black arrow: Nucleus of the oculomotor. Short white arrow: Posterior commissure

Figure 8: Scheme for upward eye movements (left) and downward eye movements (right) in the brainstem. Reproduced from Leigh RJ, Zee DS. The neurology of eye movements, 3rd ed. New York: Oxford University Press, 1999, with permission

which act as depressor muscles.[1,5] The INC, the neural integrator for vertical, and torsional gaze lie close and caudal to the riMLF. It is responsible for the vertical smooth pursuit and vertical vestibular ocular reflexes. Neurons contained in this nucleus contribute to hold the eyes in eccentric gaze after a vertical saccade and in the eye‑head coordination in the roll plane.[1,5] The PC contains the projections from INC to the controlateral 172

oculomotor nuclei and the opposite INC. Furthermore, it contains axons responsible for upgaze originating from the nucleus of the PC and projecting to the riMLF, and to the INC.[1,5] The final pathways are the motor neurons of the III and IV cranial nerves. The oculomotor nucleus is placed under the superior colliculus beyond which it extends for a short distance into the gray substance in the floor of the III ventricle while the trochlear nucleus is level with the upper part of the inferior colliculus. Although approximate given by the suboptimal resolution of MRI and CT imaging, in these patients it is possible to perform a correlation between clinical features, brain injuries (as shown by imaging tests), and anatomical pathways. Our three patients are consistent with previous published reports[2‑5] and definitively illustrate that VGP may be induced by unilateral lesions, which involve not only the ipsilateral riMLF but also the contralateral riMLF fibers after their decussation. It can be assumed that in our Neurology India | Mar-Apr 2013 | Vol 61 | Issue 2

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patients, a unilateral lesion of right riMLF interrupted the crossing fibers from the left riMLF as they traverse the right mid‑brain tegmentum, so inducing an anatomically unilateral, but functionally bilateral lesion.

Francesco Brigo1,2, Piergiorgio Lochner2, Giampaolo Tomelleri3, Giuseppe Moretto3, Raffaele Nardone2,4, Roop Gursahani5 Department of Neurology, Neuropsychological, Morphological and Movement Sciences, Section of Clinical Neurology, University of Verona, 2 Department of Neurology, Franz Tappeiner Hospital, Meran, 3 SSO Stroke Unit, UO di Neurologia, DAI di Neuroscienze e Istituto di Neurochirurgia, Azienda Ospedaliera Universitaria Integrata di Verona, Italy, 5Parmanand Deepchand Hinduja National Hospital, Mumbai, India, 4Department of Neurology, Christian Doppler Clinic, Paracelsus Medical University, Salzburg, Austria E‑mail: [email protected] 1

References 1. Bhidayasiri R, Plant GT, Leigh RJ. A hypothetical scheme for the brainstem control of vertical gaze. Neurology 2000;54:1985‑93. 2. Bogousslavsky J, Miklossy J, Regli F, Janzer R. Vertical gaze palsy and selective unilateral infarction of the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF). J Neurol Neurosurg Psychiatry 1990;53:67‑71. 3. Hommel M, Bogousslavsky J. The spectrum of vertical gaze palsy following unilateral brainstem stroke. Neurology 1991;41:1229‑34. 4. Alemdar M, Kamaci S Budak F. Unilateral mid‑brain infarction causing upward and downward gaze palsy. J Neuroophthalmol 2006;26:173‑6. 5. Pothalil D, Gille M. Conjugate downward and upward vertical gaze palsy due to unilateral rostral mid‑brain infarction. J Neurol 2012;259:779‑82. Access this article online Quick Response Code:

Website: www.neurologyindia.com PMID: ***

Sir, Sickle cell disease (SCD) is reported to be an important cause of stroke. However, in sickle cell disease cerebral sinus venous thrombosis (CSVT) is uncommon. Only a few cases have been reported in literature[1‑8] None of the reports include isolated cortical vein thrombosis. We present a case of a young man with sickle cell disease, who presented with cortical vein thrombosis and underwent decompressive craniotomy. An 18‑year‑old young man was referred to our service with a seven‑hour history of progressive dysphasia and right‑sided hemiparesis. The previous day the patient had mild alcohol intake. He had prior diagnosis of homozygous sickle cell disease with recurrent crisis of sickling. He was neither on hydroxyurea nor had multiple transfusions. Initial hemoglobin and hematocrit were 10.7 g/dl and 22.8%, respectively. Thrombophilia studies were negative. The initial brain computerized tomography (CT) scan showed hemorrhagic infarction in the left temporal lobe [Figure 1]. Digital subtraction angiography  (DSA) showed the artery shift caused by the mass effect of the hematoma, and an avascular area within the typical topography of the Labbé’s complex  [Figure  2]. Twelve hours later the patient showed progressive drowsiness and a precocious decompressive craniotomy was proposed, as the literature suggested survival benefit and improved outcomes with precocious decompressive craniotomy in patients with progressive neurological impairment, under risk of herniation. Intraoperatively, there was an evident thrombosis in the Labbé’s vein  [Figure  3]. Surgery was uneventful and a gentle puncture of the hematoma was performed to alleviate the mass effect. The patient had good postoperative evolution. He

DOI: 10.4103/0028-3886.111131

Received: 07‑12‑2012 Review completed: 07‑12‑2012 Accepted: 10‑03‑2013

Isolated cortical vein thrombosis in a patient with sickle cell disease: Treatment with decompressive craniotomy and anticoagulation and literature review Neurology India | Mar-Apr 2013 | Vol 61 | Issue 2

Figure 1: CT shows venous infarction with hemorrhage transformation within the temporal lobe

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