- Email: [email protected]
P90-F Painful pupil-involving oculomotor palsy as a manifestation of Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Abstracts / Clinical Neurophysiology 130 (2019) e21–e116
Conclusions: In a case of severe congenital myopathy without cardiac involvement, it is essential to consider the global clinical context. Although very rare, mutations in the fetal skeletal transcript of TTN should be excluded. doi:10.1016/j.clinph.2019.04.536
P88-F Electromyographic findings in our cohort of patients with congenital muscular dystrophies and congenital myopathies— Margarida Gratacòs-Viñola a,*, Núria Raguer a, Elena Lainez a, José L. Seoane a, Angel Garcia-Montañez b, David Gómez-Andrés c,d, Francina Munell c,d (a Clinical Neurophysiology Department, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, b Pediatric Neuroradiology Unit, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, c Child Neurology Section, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, d VHIR Pediatric Neurology, Hospital Universitari Vall d’Hebrón, Barcelona, Spain) ⇑
Corresponding author.
Introduction: Congenital myopathies (CM) followed by Congenital muscular dystrophies (CMDs) are the most common muscular cause of floppy infant syndrome. It is well known that EMG pattern in both groups is similar, but it is recently described a characteristic association between peripheral neuropathy and some congenital muscular dystrophies. The objective of this presentation is to describe the EMG findings in our cohort. Material and methods: We reviewed retrospectively charts and EMG studies of patients with genetically confirmed Cand CM followed in our Hospital in order to evaluate the pattern of EMG involvement. Results: All patients showed proximal myopathic changes at EMG. Only one patient with DMC had spontaneous activity at rest (LAMA2). Three patients shared a mixed pattern: First patient with col VI myopathy showed a distal motor axonal neuropathy (similar to distal motoneuron disease), the second one with col VI myopathy displayed minor motor conduction abnormalities but with loss of motor unit at distal muscles and a third patient with LAMA2 Cexhibited isolated sensory motor desmyelinating findings. Conclusions: In our cohort only 37% of Cpatients show association of neuropathy and myopathy at EMG. In patients with floppy infant syndrome we suggest to perform nerve conduction studies and needle EMG at proximal and distal muscles to evaluate the association between myopathy and motor neuropathy to achieve a correct electrodiagnosis. It will be interesting to perform longitudinal studies to know if neuropathy is a finding that develops during the follow up and if it depends on the type of genetic abnormality. doi:10.1016/j.clinph.2019.04.537
P89-F Neurophysiological findings in 11 cases of dropped head syndrome—Gonzalo Díaz Cano *, Soraya De La Fuente Batista, Marta Oses Lara, Óscar Garnés C. Estruch, José Manuel Corredera Rodríguez, Nelson Cuéllar, Ivana Zamarbide (University Hospital Fundacion Jimenez Diaz, Madrid, Spain) ⇑
Corresponding author.
Background: Dropped head syndrome (DHS) is a rare disorder characterized by weakness of the cervical paraspinal muscles with inability to extend the neck. It can be a part of several generalized
e93
neuromuscular processes or secondary to local conditions. Also, a restricted myopathy, ‘‘isolated neck extensor myopathy” (INEM), has been described. Material and methods: 11 cases of DHS were referred to our Neurophysiology department in the period 2015–2018 for evaluation, with suspected neuromuscular etiology. ENG/EMG, repetitive nerve stimulation, sfEMG or all of them were performed according to the clinical suspicion and findings. Results: In 4 patients, neurophysiological studies were compatible with neuromuscular junction disorder (one of them with overlapping myopathic features): findings showed clearly positive repetitive nerve stimulation in facial and spinal nerves. sfEMG mean consecutive difference (MCD) was above 80 ls, with some blocking, in these cases. In 6 patients, EMG proved myopathic changes: mild spontaneous activity in all of them (positive waves, mainly), and short, small motor unit action potentials in 5. Of particular interest, in the myopathic group, sfEMG showed increased jitter in few pairs of fiber, but normal mean jitter and without blocking. In 2 cases, the evaluation could not be concluded. The final diagnosis in 4 cases was myasthenia gravis, and myopathy in 7 (inflammatory myopathy or isolated neck extensor myopathy). All patients improved with specific treatment. Conclusions: In our series, miastenia gravis and myopathy (INEM or inflammatory) were the main etiologies. Neurophysiological studies revealed distinctive features in both groups, with high diagnostic yield. doi:10.1016/j.clinph.2019.04.538
P90-F Painful pupil-involving oculomotor palsy as a manifestation of Chronic Inflammatory Demyelinating Polyradiculoneuropathy—Daniela Garcez a,*, Leonor Rebordão b, Ângela Abreu b, Simão Cruz b, Catarina Matos c, Filomena Batista c, Tiago Patinhas c, Ana Valverde b, José Campillo b (a Department of Neurology, Instituto Português de Oncologia de Lisboa, Lisboa, Portugal, b Department of Neurology, Hospital Fernando Fonseca, Amadora, Portugal, c Department of Physical Medicine and Rehabilitation, Hospital Fernando Fonseca, Amadora, Portugal) ⇑
Corresponding author.
Background: Opthalmoplegia is a rare complication of CIDP and usually occurs in the setting of a longstanding disease. Moreover, very few cases describe an autonomic involvement. Material and methods: Case report. Results and conclusions: A 25-year-old man with no relevant past medical history was admitted to the hospital due to limb weakness and numbness which evolved over two months. He denied recent infectious illness. Neurological examination revealed a flaccid, symmetric and distal-predominant tetraparesis, areflexia and vibration sense impairment of the lower limbs. Nerve conduction studies showed demyelinating changes fulfilling 2010 EFNS/PNS criteria for the definite diagnosis of CIDP. CSF had increased protein content and no paraprotein or ganglioside antibodies were found. As unaided ambulation was initially preserved, immunotherapy was not immediately started. However, over the following days, he developed dyplopia with right ocular pain. A partial third right palsy with a fixed mydriasis was found and IV immunoglobulin was then initiated. A few days after starting immunotherapy dyplopia resolved and tetraparesis also improved. We report an unusual case of CIDP with an early unilateral, painful, third nerve palsy with pupil involvement. doi:10.1016/j.clinph.2019.04.539
Conclusions: In a case of severe congenital myopathy without cardiac involvement, it is essential to consider the global clinical context. Although very rare, mutations in the fetal skeletal transcript of TTN should be excluded. doi:10.1016/j.clinph.2019.04.536
P88-F Electromyographic findings in our cohort of patients with congenital muscular dystrophies and congenital myopathies— Margarida Gratacòs-Viñola a,*, Núria Raguer a, Elena Lainez a, José L. Seoane a, Angel Garcia-Montañez b, David Gómez-Andrés c,d, Francina Munell c,d (a Clinical Neurophysiology Department, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, b Pediatric Neuroradiology Unit, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, c Child Neurology Section, Hospital Universitari Vall d’Hebrón, Barcelona, Spain, d VHIR Pediatric Neurology, Hospital Universitari Vall d’Hebrón, Barcelona, Spain) ⇑
Corresponding author.
Introduction: Congenital myopathies (CM) followed by Congenital muscular dystrophies (CMDs) are the most common muscular cause of floppy infant syndrome. It is well known that EMG pattern in both groups is similar, but it is recently described a characteristic association between peripheral neuropathy and some congenital muscular dystrophies. The objective of this presentation is to describe the EMG findings in our cohort. Material and methods: We reviewed retrospectively charts and EMG studies of patients with genetically confirmed Cand CM followed in our Hospital in order to evaluate the pattern of EMG involvement. Results: All patients showed proximal myopathic changes at EMG. Only one patient with DMC had spontaneous activity at rest (LAMA2). Three patients shared a mixed pattern: First patient with col VI myopathy showed a distal motor axonal neuropathy (similar to distal motoneuron disease), the second one with col VI myopathy displayed minor motor conduction abnormalities but with loss of motor unit at distal muscles and a third patient with LAMA2 Cexhibited isolated sensory motor desmyelinating findings. Conclusions: In our cohort only 37% of Cpatients show association of neuropathy and myopathy at EMG. In patients with floppy infant syndrome we suggest to perform nerve conduction studies and needle EMG at proximal and distal muscles to evaluate the association between myopathy and motor neuropathy to achieve a correct electrodiagnosis. It will be interesting to perform longitudinal studies to know if neuropathy is a finding that develops during the follow up and if it depends on the type of genetic abnormality. doi:10.1016/j.clinph.2019.04.537
P89-F Neurophysiological findings in 11 cases of dropped head syndrome—Gonzalo Díaz Cano *, Soraya De La Fuente Batista, Marta Oses Lara, Óscar Garnés C. Estruch, José Manuel Corredera Rodríguez, Nelson Cuéllar, Ivana Zamarbide (University Hospital Fundacion Jimenez Diaz, Madrid, Spain) ⇑
Corresponding author.
Background: Dropped head syndrome (DHS) is a rare disorder characterized by weakness of the cervical paraspinal muscles with inability to extend the neck. It can be a part of several generalized
e93
neuromuscular processes or secondary to local conditions. Also, a restricted myopathy, ‘‘isolated neck extensor myopathy” (INEM), has been described. Material and methods: 11 cases of DHS were referred to our Neurophysiology department in the period 2015–2018 for evaluation, with suspected neuromuscular etiology. ENG/EMG, repetitive nerve stimulation, sfEMG or all of them were performed according to the clinical suspicion and findings. Results: In 4 patients, neurophysiological studies were compatible with neuromuscular junction disorder (one of them with overlapping myopathic features): findings showed clearly positive repetitive nerve stimulation in facial and spinal nerves. sfEMG mean consecutive difference (MCD) was above 80 ls, with some blocking, in these cases. In 6 patients, EMG proved myopathic changes: mild spontaneous activity in all of them (positive waves, mainly), and short, small motor unit action potentials in 5. Of particular interest, in the myopathic group, sfEMG showed increased jitter in few pairs of fiber, but normal mean jitter and without blocking. In 2 cases, the evaluation could not be concluded. The final diagnosis in 4 cases was myasthenia gravis, and myopathy in 7 (inflammatory myopathy or isolated neck extensor myopathy). All patients improved with specific treatment. Conclusions: In our series, miastenia gravis and myopathy (INEM or inflammatory) were the main etiologies. Neurophysiological studies revealed distinctive features in both groups, with high diagnostic yield. doi:10.1016/j.clinph.2019.04.538
P90-F Painful pupil-involving oculomotor palsy as a manifestation of Chronic Inflammatory Demyelinating Polyradiculoneuropathy—Daniela Garcez a,*, Leonor Rebordão b, Ângela Abreu b, Simão Cruz b, Catarina Matos c, Filomena Batista c, Tiago Patinhas c, Ana Valverde b, José Campillo b (a Department of Neurology, Instituto Português de Oncologia de Lisboa, Lisboa, Portugal, b Department of Neurology, Hospital Fernando Fonseca, Amadora, Portugal, c Department of Physical Medicine and Rehabilitation, Hospital Fernando Fonseca, Amadora, Portugal) ⇑
Corresponding author.
Background: Opthalmoplegia is a rare complication of CIDP and usually occurs in the setting of a longstanding disease. Moreover, very few cases describe an autonomic involvement. Material and methods: Case report. Results and conclusions: A 25-year-old man with no relevant past medical history was admitted to the hospital due to limb weakness and numbness which evolved over two months. He denied recent infectious illness. Neurological examination revealed a flaccid, symmetric and distal-predominant tetraparesis, areflexia and vibration sense impairment of the lower limbs. Nerve conduction studies showed demyelinating changes fulfilling 2010 EFNS/PNS criteria for the definite diagnosis of CIDP. CSF had increased protein content and no paraprotein or ganglioside antibodies were found. As unaided ambulation was initially preserved, immunotherapy was not immediately started. However, over the following days, he developed dyplopia with right ocular pain. A partial third right palsy with a fixed mydriasis was found and IV immunoglobulin was then initiated. A few days after starting immunotherapy dyplopia resolved and tetraparesis also improved. We report an unusual case of CIDP with an early unilateral, painful, third nerve palsy with pupil involvement. doi:10.1016/j.clinph.2019.04.539