Lambert–Eaton Myasthenic syndrome in a child with an autoimmune phenotype

Hoffman, William H.; Helman, Sandra W.; Sekul, Elizabeth A.; Carroll, James E.; Vega, R.

doi:10.1002/ajmg.a.20022

Cited by 22 publications

(13 citation statements)

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“…An association between GD and IgAD was previously suggested in various case reports (32)(33)(34)(35), and a small screening study showed that IgAD is overrepresented among GD patients (36) (Table 1), although this could not be confirmed by other groups (37)(38)(39).…”

Section: Igad and Graves Diseasementioning

confidence: 79%

Selective IgA Deficiency in Autoimmune Diseases

Wang

Shen

Vyse

et al. 2011

Mol Med

175

118

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Section: Igad and Graves Diseasementioning

confidence: 79%

Selective IgA Deficiency in Autoimmune Diseases

Wang

Shen

Vyse

et al. 2011

Mol Med

175

118

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“…LEMS is even rarer in children, and only 11 pediatric cases have been reported in the literature (table). [2][3][4][5][6][7][8][9][10] Neoplasm was associated with 4 of these cases. 4,6 We present the case of a 3-year-old boy with LEMS, supported by the clinical presentation, characteristic findings on EMG, and elevated serum P/Q-type voltage-gated calcium channel antibodies.…”

mentioning

confidence: 99%

“…Of the 11 cases reported, however, 4 of these had positive voltage-gated calcium channel antibodies. 2,5,7 Thus, the value of testing for P/Q-type voltage-gated calcium channel antibodies in children with suspected LEMS is unclear but may be helpful in circumstances where the diagnosis is unclear.…”

mentioning

confidence: 99%

“…In addition, screening for autoimmune disorders is reasonable given the adult literature on nontumor LEMS and a pediatric case report of LEMS in the setting of autoimmune disease. 5 LEMS is an immune-mediated syndrome that rarely affects children. Diagnosis of LEMS in children should be based on the characteristic clinical presentation and on electrodiagnostic studies.…”

mentioning

confidence: 99%

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Child Neurology: Diagnosis of Lambert-Eaton myasthenic syndrome in children

Morgan-Followell

Reyes

2013

Neurology

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Objective: To report a case of Lambert-Eaton myasthenic syndrome (LEMS) in a child and review the existing literature of LEMS in children. Methods:We report a pediatric case of LEMS with the classic clinical triad of proximal weakness, autonomic dysfunction, and areflexia; the characteristic increment in compound motor action potential on high-frequency repetitive nerve stimulation; and positive serum P/Q-type voltagegated calcium channel antibodies. Only 11 pediatric cases of LEMS have been reported in the literature.Results: The patient's presentation with LEMS led to the diagnosis of occult neuroblastoma.Based on review of the existing pediatric literature, no consistent clinical or electrodiagnostic criteria exist to diagnose LEMS in children.Conclusions: There exists a need for consistent clinical criteria and electrodiagnostic testing for prompt diagnosis of LEMS in children. Prompt identification of LEMS will alert the physician to search for malignancy or another immune-mediated process. Paraneoplastic syndromes are immune-mediated phenomena that occur in a location remote to the primary neoplasm. The incidence of these syndromes is rare in adult cancers. The incidence is unknown in the pediatric population.Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of neuromuscular transmission. The classic clinical presentation is proximal weakness, areflexia, and autonomic dysfunction. Antibodies to the P/Q-type voltage-gated calcium channel are present in 85%-90% of adult patients with LEMS.1 These antibodies interfere with quantal acetylcholine release from the presynaptic terminal of the neuromuscular junction and functional loss of voltage-gated calcium channels. Thus, less calcium enters the presynaptic terminal with the action potential, resulting in decreased release of acetylcholine. Nerve conduction studies characteristically show low compound motor action potential (CMAP) amplitudes.1 Facilitation, or an incremental increase in the amplitude of the CMAP, is seen upon high-frequency repetitive stimulation or following exercise testing. This is a finding highly specific for LEMS. 1 LEMS is a rare disorder in adults, most often seen as a paraneoplastic process with small-cell lung cancer. LEMS is even rarer in children, and only 11 pediatric cases have been reported in the literature (table). 2-10 Neoplasm was associated with 4 of these cases. 4,6 We present the case of a 3-year-old boy with LEMS, supported by the clinical presentation, characteristic findings on EMG, and elevated serum P/Q-type voltage-gated calcium channel antibodies.Case report. A previously healthy 3-year-old boy was admitted for evaluation of proximal weakness and ptosis, and for treatment of severe constipation that developed over a 4-to 5-month period. CSF was normal. MRI of the brain was unremarkable. The child's ptosis and extremity weakness improved without treatment over several days and he was discharged home. He returned approximately 1 week later with quadriparesis, worsened ptosis, and areflex...

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“…Autoimmune polyglandular syndromes (APS) are a group of rare disorders defined by autoimmune activity against endocrine and nonendocrine organs. APS type IIIC includes autoimmune thyroiditis (AIT), vitiligo and/or alopecia, and/or other autoimmune disease such as chronic spontaneous urticaria (CSU) . CSU is a mast cell‐driven disease characterized by recurrent wheals and/or angioedema lasting for at least 6 weeks .…”

Section: Characteristic Features Of Autoimmune Polyglandular Syndromementioning

confidence: 99%