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56. Ultrasound (US) features of Charcot-Marie-Tooth disease type 1 (HMSN TYPE I)
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Abstracts / Clinical Neurophysiology 128 (2017) e415–e437
sessions (5.4 + 4.5) of sham rTMS with H-coil as symptomatic treatment for FD. Global Clinical Impression of Improvement (CGI-I) was collected from the treating physician and correlated with clinicaldemographical data using Spearman test. A coexisting neurological disease was diagnosed in 4 patients, while 8 had a psychiatric disorder; 8 patients presented with either sensitive or motor deficits, 7 had hyperkinetic movement disorders and 3 a mixture of both. Twelve patients improved following treatment (CGI-I 2.9 + 1.0) with only 1 patient with psychogenic tremor showing a mild and transitory feeling of postural instability. A greater CGI-I was found for shorter disease duration (r 0.871, p < 0.001). Sham rTMS with H-coil appears to be safe and can improve symptoms in FD. doi:10.1016/j.clinph.2017.09.060
54. Primary cutis verticis gyrata associated to chronic migraine treated with ultrasound guided onabotulinum injections. A case report—L. Di Lorenzo Luigi, F. Di Stani Fabrizio (Benevento, Italy, Roma, Italy) Cutis verticis gyrata (CVG), also known as ‘‘bulldog” scalp syndrome was originally described in 1837 by Jean-Louis-Marc Alibert. CVG is a descriptive term for a condition of the scalp manifesting as convoluted folds and furrows formed from thickened skin of the scalp resembling cerebriform pattern. In 1953 Polan and Butterworth classified CVG into two forms: primary and secondary. The primary form can be divided in essential and non-essential, where the essential form do not present other abnormality (while primary nonessential can be associated with other pathologies or a combination of this. In the primary essential form, the etiology is not known, and, though most of the cases seem sporadic, autosomal recessive and autosomal dominant inheritance with variable expression have been described. In the primary nonessential form, the pathogenesis (beside the genetic determination) may have an endocrinologic basis. In the secondary form, the etiology depends on the underlying process (eg,inflammatory, neoplastic). Our patient was a 25 year old caucasian male who presented for three years scalp skin redundancy, with deep cerebriform folds and wrinkles, located in frontoparietal regions He denied comorbidities. He referred fronto temporal headache often unilateral with casual trigeminal diffusion, described as chronic and burning pain with allodinia. For those he performed a 3T MRI of head with a 3D reconstraction of scalp that excluded abnormality of the brain lobes and essentially revealed thickened dermis and a slight increase in the volume of subcutaneous fat and irregularly distributed cutaneous folds characteristic of CVG. Because neurologist considered patient with CM and inadequate response or intolerance to previous two prophylactic treatments he was treated with pericranial injections of about 150 UI of BoNT-A with the proposal to repeat treatment every 3–4 months and the purpose to increase dose up to 200 U in case of no response. After 3 months unfortunately patient achieved minimal reduction of pain of about 20–30% in headache frequency and intensity and during the 3 months follow-up period. The first weeks after BonT-A treatment he reduced NSAIDs and analgesics consumption but unfortunately after first stage he preferred to avoid further botulinum injections due to mini invasive procedure on scalp. Primary essential cutis verticis gyrata firstly because is a cosmetic problem, but also because eventual pain symptoms and psychological repercussions are very important issues. In this case both pain relief and reduction of folds width could be beneficials and therefore we encouraged the patient to treat both CM and CVG with BonT-A Injections. doi:10.1016/j.clinph.2017.09.061
55. Assessing the risk of restless legs syndrome in small fiber peripheral neuropathy—F. Rinaldi, S. Damioli, M. Pasolini, G. De Maria, A. Padovani, M. Filosto (Brescia, Italy) The pathophysiology of restless legs syndrome (RLS) isn’t completely understood. Small Fiber Neuropathy (SFN) patients may have RLS-like sensory symptoms. The aim of this study was to assess the prevalence and clinical features of RLS in patients with SFN, compared with Large Fibres Neuropathy (LFN) patients and healthy controls. All patients underwent nerve-conduction studies and electromyography, and a skin biopsy to confirm SFN. RLS was diagnosed according to international criteria. We compared: frequency of RLS, age of onset, severity as measured by IRLS, insomnia and diabetes comorbidity. We included 39 SFN patients, 37 LFN patients and 40 matched controls. Peripheral nerve-conduction velocities were normal in SFN patients and controls. SFN patients had a 25.60% prevalence of RLS, compared to 10.80% in LFN and 7.50% in controls. Age of onset was 42.91 years, versus 62.67 in LFN and 58.50 in controls. Mean IRLS was 15.6 versus 19.5 in LFN and 18.6 in controls. The occurrence of insomnia was similar between SFN and LFN (43.58% and 43.24%), but higher than in controls (20%). Biopsy-proven SFN patients had a higher risk for an early-onset RLS. They show a less severe RLS, but it can frequently cause insomnia. doi:10.1016/j.clinph.2017.09.062
56. Ultrasound (US) features of Charcot-Marie-Tooth disease type 1 (HMSN TYPE I)—F. Sartucci, T. Bocci, A. Di Rollo, C. Del Gamba, M. Bartolotta, D. Barloscio, L. Parenti, M. Santin (Pisa, Italy) Hereditary Motor and Sensory Neuropathies (HMSN) often present a set of challenges on the electrophysiological diagnosis. Even if genetic tests are now available for most of the subtypes, electromyography (EMG) still plays an irreplaceable role in diagnosis. Despite classic division into demyelinating and axonal, many forms of Charcot-Marie-Tooth (CMT) are not easy to diagnose, and ultrasound (US) can make this distinction a bit easier. The presence of an underlying neuropathy can complicate diagnosis of overlapping entrapment syndromes. We investigated 8 patients with HMSN type I (CMT Type I) (5 M and 3 F, mean age 51 ± 8 aa). As control values, we used those of our laboratory, obtained in healthy volunteers, matched for age and sex with patients. We used Telemed Echo-wave II or Esaote MyLab Gamma device; in particular, it was rated cross section area (CSA) observing the main nerve trunks on their entire evaluable length. The average size of nerve was increased in upper limbs and changes were diffuse, while in entrapment neuropathy were focal; also, vague nerve was increased. Moreover, US of nerve trunks provide insight on neuropathy type. Though the literature data concerning US are still limited, is therefore desirable, in the future, a US routine use as a screening tool to help EMG, genetic testing and evaluation of overlapping entrapment syndromes in cases of suspected hereditary neuropathies. doi:10.1016/j.clinph.2017.09.063
Abstracts / Clinical Neurophysiology 128 (2017) e415–e437
sessions (5.4 + 4.5) of sham rTMS with H-coil as symptomatic treatment for FD. Global Clinical Impression of Improvement (CGI-I) was collected from the treating physician and correlated with clinicaldemographical data using Spearman test. A coexisting neurological disease was diagnosed in 4 patients, while 8 had a psychiatric disorder; 8 patients presented with either sensitive or motor deficits, 7 had hyperkinetic movement disorders and 3 a mixture of both. Twelve patients improved following treatment (CGI-I 2.9 + 1.0) with only 1 patient with psychogenic tremor showing a mild and transitory feeling of postural instability. A greater CGI-I was found for shorter disease duration (r 0.871, p < 0.001). Sham rTMS with H-coil appears to be safe and can improve symptoms in FD. doi:10.1016/j.clinph.2017.09.060
54. Primary cutis verticis gyrata associated to chronic migraine treated with ultrasound guided onabotulinum injections. A case report—L. Di Lorenzo Luigi, F. Di Stani Fabrizio (Benevento, Italy, Roma, Italy) Cutis verticis gyrata (CVG), also known as ‘‘bulldog” scalp syndrome was originally described in 1837 by Jean-Louis-Marc Alibert. CVG is a descriptive term for a condition of the scalp manifesting as convoluted folds and furrows formed from thickened skin of the scalp resembling cerebriform pattern. In 1953 Polan and Butterworth classified CVG into two forms: primary and secondary. The primary form can be divided in essential and non-essential, where the essential form do not present other abnormality (while primary nonessential can be associated with other pathologies or a combination of this. In the primary essential form, the etiology is not known, and, though most of the cases seem sporadic, autosomal recessive and autosomal dominant inheritance with variable expression have been described. In the primary nonessential form, the pathogenesis (beside the genetic determination) may have an endocrinologic basis. In the secondary form, the etiology depends on the underlying process (eg,inflammatory, neoplastic). Our patient was a 25 year old caucasian male who presented for three years scalp skin redundancy, with deep cerebriform folds and wrinkles, located in frontoparietal regions He denied comorbidities. He referred fronto temporal headache often unilateral with casual trigeminal diffusion, described as chronic and burning pain with allodinia. For those he performed a 3T MRI of head with a 3D reconstraction of scalp that excluded abnormality of the brain lobes and essentially revealed thickened dermis and a slight increase in the volume of subcutaneous fat and irregularly distributed cutaneous folds characteristic of CVG. Because neurologist considered patient with CM and inadequate response or intolerance to previous two prophylactic treatments he was treated with pericranial injections of about 150 UI of BoNT-A with the proposal to repeat treatment every 3–4 months and the purpose to increase dose up to 200 U in case of no response. After 3 months unfortunately patient achieved minimal reduction of pain of about 20–30% in headache frequency and intensity and during the 3 months follow-up period. The first weeks after BonT-A treatment he reduced NSAIDs and analgesics consumption but unfortunately after first stage he preferred to avoid further botulinum injections due to mini invasive procedure on scalp. Primary essential cutis verticis gyrata firstly because is a cosmetic problem, but also because eventual pain symptoms and psychological repercussions are very important issues. In this case both pain relief and reduction of folds width could be beneficials and therefore we encouraged the patient to treat both CM and CVG with BonT-A Injections. doi:10.1016/j.clinph.2017.09.061
55. Assessing the risk of restless legs syndrome in small fiber peripheral neuropathy—F. Rinaldi, S. Damioli, M. Pasolini, G. De Maria, A. Padovani, M. Filosto (Brescia, Italy) The pathophysiology of restless legs syndrome (RLS) isn’t completely understood. Small Fiber Neuropathy (SFN) patients may have RLS-like sensory symptoms. The aim of this study was to assess the prevalence and clinical features of RLS in patients with SFN, compared with Large Fibres Neuropathy (LFN) patients and healthy controls. All patients underwent nerve-conduction studies and electromyography, and a skin biopsy to confirm SFN. RLS was diagnosed according to international criteria. We compared: frequency of RLS, age of onset, severity as measured by IRLS, insomnia and diabetes comorbidity. We included 39 SFN patients, 37 LFN patients and 40 matched controls. Peripheral nerve-conduction velocities were normal in SFN patients and controls. SFN patients had a 25.60% prevalence of RLS, compared to 10.80% in LFN and 7.50% in controls. Age of onset was 42.91 years, versus 62.67 in LFN and 58.50 in controls. Mean IRLS was 15.6 versus 19.5 in LFN and 18.6 in controls. The occurrence of insomnia was similar between SFN and LFN (43.58% and 43.24%), but higher than in controls (20%). Biopsy-proven SFN patients had a higher risk for an early-onset RLS. They show a less severe RLS, but it can frequently cause insomnia. doi:10.1016/j.clinph.2017.09.062
56. Ultrasound (US) features of Charcot-Marie-Tooth disease type 1 (HMSN TYPE I)—F. Sartucci, T. Bocci, A. Di Rollo, C. Del Gamba, M. Bartolotta, D. Barloscio, L. Parenti, M. Santin (Pisa, Italy) Hereditary Motor and Sensory Neuropathies (HMSN) often present a set of challenges on the electrophysiological diagnosis. Even if genetic tests are now available for most of the subtypes, electromyography (EMG) still plays an irreplaceable role in diagnosis. Despite classic division into demyelinating and axonal, many forms of Charcot-Marie-Tooth (CMT) are not easy to diagnose, and ultrasound (US) can make this distinction a bit easier. The presence of an underlying neuropathy can complicate diagnosis of overlapping entrapment syndromes. We investigated 8 patients with HMSN type I (CMT Type I) (5 M and 3 F, mean age 51 ± 8 aa). As control values, we used those of our laboratory, obtained in healthy volunteers, matched for age and sex with patients. We used Telemed Echo-wave II or Esaote MyLab Gamma device; in particular, it was rated cross section area (CSA) observing the main nerve trunks on their entire evaluable length. The average size of nerve was increased in upper limbs and changes were diffuse, while in entrapment neuropathy were focal; also, vague nerve was increased. Moreover, US of nerve trunks provide insight on neuropathy type. Though the literature data concerning US are still limited, is therefore desirable, in the future, a US routine use as a screening tool to help EMG, genetic testing and evaluation of overlapping entrapment syndromes in cases of suspected hereditary neuropathies. doi:10.1016/j.clinph.2017.09.063