Acta Neurol Belg DOI 10.1007/s13760-014-0325-8
LETTER TO THE EDITOR
Neuromyelitis optica associated with painful paroxysmal dystonia: case report and literature review Rodica Ba˘las¸ a • Zoltan Bajko´ • Anca Mot¸ a˘t¸ a˘ianu Anca Maier • Smaranda Maier
•
Received: 11 April 2014 / Accepted: 15 June 2014 Ó Belgian Neurological Society 2014
Keywords Neuromyelitis optica Tonic spasms Paroxysmal dystonia Devic’s syndrome
Introduction Neuromyelitis optica (NMO) is a chronic inflammatory disease of the central nervous system that preferentially affects the optic nerves and spinal cord, and is characterised by the presence of autoantibody to aquaporin-4 (AQP4) [1–4]. Movement disorders have been described in demyelinating diseases, mainly in multiple sclerosis (MS). The presence of these complications in NMO is documented only in case presentations and small case series. The most frequent movement disorders in demyelinating diseases are paroxysmal dystonias (PD), also called tonic spasms (TS) [4]. The original description by Matthews WB was of ‘‘tonic seizures’’ [5]. Our objective is to present a case of NMO associated with paroxysmal painful dystonia and to review the literature.
R. Ba˘las¸ a Z. Bajko´ A. Mot¸ a˘¸t a˘ianu S. Maier Department of Neurology, University of Medicine and Pharmacy, Taˆrgu Mures¸ , Romania R. Ba˘las¸ a Z. Bajko´ (&) A. Mot¸ a˘¸t a˘ianu S. Maier Neurology Clinic I, Mures¸ County Clinical Emergency Hospital, Gh. Marinescu 50, 540136 Taˆrgu Mures¸ , Mures¸ County, Romania e-mail: [email protected] A. Maier Department of Cardiology, Mures¸ County Clinical Emergency Hospital, Taˆrgu Mures¸ , Romania
Case report We report a case of a 36-year-old female patient who presented in April 2013 with cervical pain and triparesis (lower limbs and right upper limb). Brain and cervical MRI was performed. Brain MRI was normal and cervical MRI revealed an extensive T2 and fluid-attenuated inversion recovery hyperintense lesion at the level of C1–C4 of the spinal cord, suggestive of acute myelitis (Fig. 1). She was treated with intravenous (IV) methylprednisolone (1 g daily for 5 days, followed by slow prednisone taper during 6 weeks) with mild improvement of the motor deficit. In September 2013, she developed right-sided optic neuritis. The neurological examination revealed amaurosis of the right eye, triparesis, grade 4 motor deficit (lower limbs and right upper limb), with exaggerated deep tendon reflexes and extensor plantar response bilaterally, decreased rough touch, pain, and temperature sensation on the right side, vibratory sensation loss in the right lower limb, urinary urgency and incomplete urinary retention, and central pain in both upper limbs. EDSS score was six. Repeated brain and cervical MRI was similar to the first set of images. Laboratory studies revealed serum AQP4 antibodies, anticardiolipin immunoglobulin G (IgG), and hypothyroidia. Complete blood count, erythrocyte sedimentation rate, and serum chemistry were normal. Her visual loss slightly improved under IV methylprednisolone pulse therapy (1 g daily for 5 days). The pain was controlled with gabapentin (300 mg TID). We concluded that the patient met the Wingerchuk et al. [1] criteria for NMO. Azathioprine treatment was initiated (2 mg/kg divided into two daily doses). In January 2014, she presented painful paroxysmal dystonic movements in the upper limbs, consisting of posturing with tonic flexion and supination of the forearm,
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Acta Neurol Belg
Fig. 1 MRI examination, T2 weighted images: extensive T2 hyperintensity at the level of C1–C4 of the spinal cord
adduction of the upper arm, and extension of the fingers. The attacks were more severe in the right upper extremity, lasting 10–20 min, with a frequency of 10 attacks/day. She showed marked improvement in the painful dystonia after carbamazepine (3 9 200 mg/day) and cessation of gabapentin therapy.
Discussion The presented case is a classical case of NMO with a relapsing course, complicated by PD. The first manifestation of the disease was transverse myelitis. The second clinical attack occurred 5 months later and consisted of optic neuritis. Paroxysmal dystonia, also described as TS, is most frequently observed in patients with MS [4]. It consists of recurrent, brief episodes of sustained increased muscle tone and abnormal posturing in one or more limbs. The duration of the spasms is between a few seconds to minutes, with a variable frequency (2–15 times/day) [6]. The differential diagnosis includes epileptic seizures, psychogenic attacks, carpopedal spasm, paroxysmal kinesigenic choreoathetosis, and paroxysmal dystonic choreoathetosis [7]. The paroxysmal dystonia is rarely described in diseases other than MS, and there are only a few papers in the literature about its association with NMO [6]. In our patient, PD appeared 8 month after the first clinical manifestation and after the initiation of gabapentin therapy. Usmani et al. [6], in their case series of 57 NMO patients, reported a prevalence of 14 %. PD appeared at a mean of
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24.6 months after diagnosis of NMO. The pathophysiology of PD in demyelinating disorders is unknown; however, a possible mechanism described in the literature is the loss of inhibitory motor neurons within the central grey matter of the spinal cord [8, 9]. In our patient, PD resolved after initiation of carbamazepine therapy and cessation of gabapentin. Sugeno et al. [10] published a case of an NMO patient who developed choreoathetosis and painful PD after taking gabapentin. The precise neurophysiological mechanism for this association is unclear. The authors suggested that the modification of GABA receptor activity and cervical grey matter lesion had a role in the development of choreoathetosis. According to the literature the most frequent medications used are carbamazepine, benzodiazepines, phenytoin, and barbiturates [4, 6]. Leventoglu et al. [7] reported a case with a favourable response to levetiracetam. In conclusion, we present a classical case of NMO with a rarely described but disabling complication (PD). Recognition of this condition is important because it can be effectively controlled with appropriate medical therapy. Conflict of interest
Not declared.
References 1. Wingerchuk DM, Lennon VA, Pittock SJ et al (2006) Revised diagnostic criteria for neuromyelitis optica. Neurology 66:1485–1489 2. Wingerchuk DM, Lennon VA, Lucchinetti CF et al (2007) The spectrum of neuromyelitis optica. Lancet Neurol 6:805–815
Acta Neurol Belg 3. Bienia B, Balabanov R (2013) Immunotherapy of neuromyelitis optica. Autoimmune Dis 2013:741490 4. Schmidt FR, Costa FH, Silv FMLC et al (2012) Paroxysmal dystonia and neuromyelitis optica. Arq Neuropsiquiatr 70:271–273 5. Matthews WB (1958) Tonic seizures in disseminated sclerosis. Brain 81(2):193–206 6. Usmani N, Bedi G, Lam BL, Sheremata WA (2012) Association between paroxysmal tonic spasms and neuromyelitis optica. Arch Neurol 69:121–124 7. Leventog˘lu A, Karadag˘ D, Onal ZM (2011) A case of Devic’s syndrome presenting with tonic spasm: response to levetiracetam treatment. Balkan Med J 28:99–101
8. Qian P, Lancia S, Alvarez E, Klawiter EC, Cross AH, Naismith RT (2012) Association of neuromyelitis optica with severe and intractable pain. Arch Neurol 69:1482–1487 9. Trompetto C, Avanzino L, Bove M, Buccolieri A, Uccelli A, Abbruzzese G (2008) Investigation of paroxysmal dystonia in a patient with multiple sclerosis: a transcranial magnetic stimulation study. Clin Neurophysiol 119:63–70 10. Sugeno N, Izumi R, Kato K, Nakashima I, Takeda A, Aoki M (2013) Choreoathetosis in a patient with neuromyelitis optica spectrum disorder. Neurol Clin Neurosci 1:154–156
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LETTER TO THE EDITOR
Neuromyelitis optica associated with painful paroxysmal dystonia: case report and literature review Rodica Ba˘las¸ a • Zoltan Bajko´ • Anca Mot¸ a˘t¸ a˘ianu Anca Maier • Smaranda Maier
•
Received: 11 April 2014 / Accepted: 15 June 2014 Ó Belgian Neurological Society 2014
Keywords Neuromyelitis optica Tonic spasms Paroxysmal dystonia Devic’s syndrome
Introduction Neuromyelitis optica (NMO) is a chronic inflammatory disease of the central nervous system that preferentially affects the optic nerves and spinal cord, and is characterised by the presence of autoantibody to aquaporin-4 (AQP4) [1–4]. Movement disorders have been described in demyelinating diseases, mainly in multiple sclerosis (MS). The presence of these complications in NMO is documented only in case presentations and small case series. The most frequent movement disorders in demyelinating diseases are paroxysmal dystonias (PD), also called tonic spasms (TS) [4]. The original description by Matthews WB was of ‘‘tonic seizures’’ [5]. Our objective is to present a case of NMO associated with paroxysmal painful dystonia and to review the literature.
R. Ba˘las¸ a Z. Bajko´ A. Mot¸ a˘¸t a˘ianu S. Maier Department of Neurology, University of Medicine and Pharmacy, Taˆrgu Mures¸ , Romania R. Ba˘las¸ a Z. Bajko´ (&) A. Mot¸ a˘¸t a˘ianu S. Maier Neurology Clinic I, Mures¸ County Clinical Emergency Hospital, Gh. Marinescu 50, 540136 Taˆrgu Mures¸ , Mures¸ County, Romania e-mail: [email protected] A. Maier Department of Cardiology, Mures¸ County Clinical Emergency Hospital, Taˆrgu Mures¸ , Romania
Case report We report a case of a 36-year-old female patient who presented in April 2013 with cervical pain and triparesis (lower limbs and right upper limb). Brain and cervical MRI was performed. Brain MRI was normal and cervical MRI revealed an extensive T2 and fluid-attenuated inversion recovery hyperintense lesion at the level of C1–C4 of the spinal cord, suggestive of acute myelitis (Fig. 1). She was treated with intravenous (IV) methylprednisolone (1 g daily for 5 days, followed by slow prednisone taper during 6 weeks) with mild improvement of the motor deficit. In September 2013, she developed right-sided optic neuritis. The neurological examination revealed amaurosis of the right eye, triparesis, grade 4 motor deficit (lower limbs and right upper limb), with exaggerated deep tendon reflexes and extensor plantar response bilaterally, decreased rough touch, pain, and temperature sensation on the right side, vibratory sensation loss in the right lower limb, urinary urgency and incomplete urinary retention, and central pain in both upper limbs. EDSS score was six. Repeated brain and cervical MRI was similar to the first set of images. Laboratory studies revealed serum AQP4 antibodies, anticardiolipin immunoglobulin G (IgG), and hypothyroidia. Complete blood count, erythrocyte sedimentation rate, and serum chemistry were normal. Her visual loss slightly improved under IV methylprednisolone pulse therapy (1 g daily for 5 days). The pain was controlled with gabapentin (300 mg TID). We concluded that the patient met the Wingerchuk et al. [1] criteria for NMO. Azathioprine treatment was initiated (2 mg/kg divided into two daily doses). In January 2014, she presented painful paroxysmal dystonic movements in the upper limbs, consisting of posturing with tonic flexion and supination of the forearm,
123
Acta Neurol Belg
Fig. 1 MRI examination, T2 weighted images: extensive T2 hyperintensity at the level of C1–C4 of the spinal cord
adduction of the upper arm, and extension of the fingers. The attacks were more severe in the right upper extremity, lasting 10–20 min, with a frequency of 10 attacks/day. She showed marked improvement in the painful dystonia after carbamazepine (3 9 200 mg/day) and cessation of gabapentin therapy.
Discussion The presented case is a classical case of NMO with a relapsing course, complicated by PD. The first manifestation of the disease was transverse myelitis. The second clinical attack occurred 5 months later and consisted of optic neuritis. Paroxysmal dystonia, also described as TS, is most frequently observed in patients with MS [4]. It consists of recurrent, brief episodes of sustained increased muscle tone and abnormal posturing in one or more limbs. The duration of the spasms is between a few seconds to minutes, with a variable frequency (2–15 times/day) [6]. The differential diagnosis includes epileptic seizures, psychogenic attacks, carpopedal spasm, paroxysmal kinesigenic choreoathetosis, and paroxysmal dystonic choreoathetosis [7]. The paroxysmal dystonia is rarely described in diseases other than MS, and there are only a few papers in the literature about its association with NMO [6]. In our patient, PD appeared 8 month after the first clinical manifestation and after the initiation of gabapentin therapy. Usmani et al. [6], in their case series of 57 NMO patients, reported a prevalence of 14 %. PD appeared at a mean of
123
24.6 months after diagnosis of NMO. The pathophysiology of PD in demyelinating disorders is unknown; however, a possible mechanism described in the literature is the loss of inhibitory motor neurons within the central grey matter of the spinal cord [8, 9]. In our patient, PD resolved after initiation of carbamazepine therapy and cessation of gabapentin. Sugeno et al. [10] published a case of an NMO patient who developed choreoathetosis and painful PD after taking gabapentin. The precise neurophysiological mechanism for this association is unclear. The authors suggested that the modification of GABA receptor activity and cervical grey matter lesion had a role in the development of choreoathetosis. According to the literature the most frequent medications used are carbamazepine, benzodiazepines, phenytoin, and barbiturates [4, 6]. Leventoglu et al. [7] reported a case with a favourable response to levetiracetam. In conclusion, we present a classical case of NMO with a rarely described but disabling complication (PD). Recognition of this condition is important because it can be effectively controlled with appropriate medical therapy. Conflict of interest
Not declared.
References 1. Wingerchuk DM, Lennon VA, Pittock SJ et al (2006) Revised diagnostic criteria for neuromyelitis optica. Neurology 66:1485–1489 2. Wingerchuk DM, Lennon VA, Lucchinetti CF et al (2007) The spectrum of neuromyelitis optica. Lancet Neurol 6:805–815
Acta Neurol Belg 3. Bienia B, Balabanov R (2013) Immunotherapy of neuromyelitis optica. Autoimmune Dis 2013:741490 4. Schmidt FR, Costa FH, Silv FMLC et al (2012) Paroxysmal dystonia and neuromyelitis optica. Arq Neuropsiquiatr 70:271–273 5. Matthews WB (1958) Tonic seizures in disseminated sclerosis. Brain 81(2):193–206 6. Usmani N, Bedi G, Lam BL, Sheremata WA (2012) Association between paroxysmal tonic spasms and neuromyelitis optica. Arch Neurol 69:121–124 7. Leventog˘lu A, Karadag˘ D, Onal ZM (2011) A case of Devic’s syndrome presenting with tonic spasm: response to levetiracetam treatment. Balkan Med J 28:99–101
8. Qian P, Lancia S, Alvarez E, Klawiter EC, Cross AH, Naismith RT (2012) Association of neuromyelitis optica with severe and intractable pain. Arch Neurol 69:1482–1487 9. Trompetto C, Avanzino L, Bove M, Buccolieri A, Uccelli A, Abbruzzese G (2008) Investigation of paroxysmal dystonia in a patient with multiple sclerosis: a transcranial magnetic stimulation study. Clin Neurophysiol 119:63–70 10. Sugeno N, Izumi R, Kato K, Nakashima I, Takeda A, Aoki M (2013) Choreoathetosis in a patient with neuromyelitis optica spectrum disorder. Neurol Clin Neurosci 1:154–156
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