Efficacy of intravenous immunoglobulin for treatment of Lambert–Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: A case report

2015 ◽  
Vol 25 (1) ◽  
pp. 70-72 ◽  
Author(s):  
Akinori Okada ◽  
Haruki Koike ◽  
Tomohiko Nakamura ◽  
Masakatu Motomura ◽  
Gen Sobue
Author(s):  
Andreas Totzeck ◽  
Petra Mummel ◽  
Oliver Kastrup ◽  
Tim Hagenacker

Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative. All patients initially responded to pyridostigmine with a non-response in the course of the disease. While one patient recovered well after treatment with intravenous immunoglobulins, 3,4-diaminopyridine, steroids and later on immunosuppression with mycophenolate mofetil, a second died after restriction of treatment due to unfavorable cancer diagnosis, the third patient declined treatment. Although new antibodies causing neuromuscular disorders were discovered, clinical distinction has not yet been made. Our patients showed features of pre- and postsynaptic myasthenic syndrome as well as severe dropped-head syndrome and bulbar and axial muscle weakness, but only anti-N-type voltage-gated calcium channel antibodies were positive. When administered, one patient benefited from 3,4-diaminopyridine. We suggest that this overlap-syndrome should be considered especially in patients with assumed seronegative myasthenia gravis and lack of improvement under standard therapy.


Cephalalgia ◽  
2020 ◽  
Vol 40 (9) ◽  
pp. 1003-1007
Author(s):  
Poneh Adib-Samii ◽  
Simon Little ◽  
Angela Vincent ◽  
Niranjanan Nirmalananthan

Background Headache and Neurological Deficits with cerebrospinal fluid (CSF) Lymphocytosis (HaNDL) is an increasingly recognised syndrome but the aetiology remains unclear. HaNDL has striking clinical features similar to Familial Hemiplegic Migraine (FHM), commonly related to gene mutations encoding the P/Q-type voltage-gated calcium channel (VGCC). Case report We report a case of HaNDL associated with high P/Q-type voltage-gated calcium channel antibodies. Extensive investigations excluded alternative diagnoses and CSF lymphocytosis resolved within 3 months. The case was complicated by raised intracranial pressure resulting in an enlarged blind spot, papilloedema and bilateral lateral rectus palsies. Conclusion This novel association of P/Q-type voltage-gated calcium channel antibodies with HaNDL has implications for the pathology of HaNDL and spectrum of voltage-gated calcium channel-antibody disorders. We compare the clinical features of FHM and HaNDL and the potential pathological role of these antibodies. This case also highlights that raised intracranial pressure is a common feature of HaNDL, rarely resulting in serious complications.


2019 ◽  
Vol 34 (9) ◽  
pp. 499-505 ◽  
Author(s):  
Jeffrey Kornitzer ◽  
Firas Taha ◽  
Eric Segal

Objective: We present the diagnostic and clinical course of the first multicenter case series of pediatric patients with autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies. Methods: Data from 2 university hospitals were retrospectively reviewed and records of 3 patients with autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies were evaluated. Results: The 3 pediatric patients (all female) had symptoms that spanned the clinical spectrum. All 3, however, had regression of expressive language and agitation. Neuroimaging in all 3 patients was normal; electroencephalographic (EEG) findings varied among the 3 patients. Positive titers against the N-type voltage-gated calcium channel antibody were found in their cerebrospinal fluid. Following administration of intravenous immunoglobulin, all 3 had improvement in their core presenting symptoms. Conclusion: Autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies in the pediatric population presents with a wide clinical spectrum, although expressive language delay and agitation seem to be common symptoms. Treatment with intravenous immunoglobulin improves core symptoms.


2018 ◽  
Vol 89 (6) ◽  
pp. A39.3-A40
Author(s):  
Antony Winkel ◽  
Katrina Reardon ◽  
Leslie Roberts

IntroductionLambert Eaton myasthenic syndrome (LEMS) is a neuromuscular junction transmission disorder that is associated with malignancy (most often small cell lung cancer) and antibodies to the voltage gated calcium channel. Rarely, it can occur as a non-paraneoplastic phenomenon. The diagnosis can be difficult, and reduced motor amplitudes on nerve conduction studies can be misattributed to neurogenic or myopathic processes unless the referring physician or neurophysiologist considers LEMS in the differential diagnosis. Two cases of non-paraneoplastic LEMS were identified from testing performed in the Neurophysiology laboratory of St Vincent’s Hospital Melbourne in 2017. The histories, examination findings, investigations, extensive neurophysiological testing and response to treatment are presented.CasesThe two patients identified were aged 18 and 34 years at diagnosis. Both had a history of slowly progressive proximal weakness preferentially affecting the lower limbs over several years, with associated autonomic symptoms. The younger patient had become wheelchair dependent at age 17. Detailed neurophysiological testing demonstrated a pre-synaptic defect of neuromuscular junction transmission. The younger patient showed myopathic features on needle EMG. Voltage gated calcium channel antibodies were positive in both cases. Treatment with intravenous immunoglobulin, 3, 4-diaminopyridine, pyridostigmine, and azathioprine was associated with a definite improvement in strength and function in both patients. The patient with myopathic EMG features has residual moderate weakness but is now ambulant. Extensive screening for malignancies (including whole-body PET) has been negative, but surveillance will be continued for up to 5 years.ConclusionNon-paraneoplastic LEMS is a rare, but treatable, condition that warrants consideration, particularly when neurophysiological testing reveals reduced motor amplitudes. Successful diagnosis requires a threshold of suspicion in the neurophysiologist or referring neurologist.


2018 ◽  
Vol 265 (9) ◽  
pp. 2114-2119 ◽  
Author(s):  
Rodica Di Lorenzo ◽  
Karin Mente ◽  
Jianbo Li ◽  
Luay Shayya ◽  
Alexander Rae-Grant ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document