POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome is a rare multisystem disorder associated with osteosclerotic myeloma. It is characterized by peripheral polyneuropathy, presence of monoclonal plasma cell proliferative disorder, and one or more of the following features – sclerotic bone lesions, Castleman disease, elevated levels of vascular endothelial growth factor, organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, and thrombocytosis. Extramedullary plasmacytoma (EMP) is a rare plasma cell neoplasm that arises in isolated tissues without bone marrow involvement or systemic characteristics of multiple myeloma. Herein, we report a male patient who was previously diagnosed with EMP and later developed POEMS.
Chloroquine and hydroxychloroquine (HCQ) are commonly used antimalarial agents as the treatment for a wide range of autoimmune disorders including dermatological, rheumatoid, and connective tissue diseases. These amphiphilic drugs can cause toxic myopathy in in patients which are commonly characterized as reversible proximal muscle weakness, dysphagia and dyspnea. Herein, we report a case of a patient on HCQ, who suffered from toxic myopathy presenting as proximal muscle weakness and dysarthria, which was fully recovered after the cessation.
Background Nitrous oxide (N2O) is used in surgery and dentistry for its anesthetic and analgesic effects. However, neurological and psychiatric manifestations of N2O abuse have been increasingly reported among Korean adults. The aim of this study was to demonstrate laboratory findings of N2O abuse in Korean patients.
Methods Patients diagnosed with N2O-induced neuropathy or myelopathy from August 2018 to December 2019 were enrolled. Their clinical presentations and laboratory and imaging findings were analyzed.
Results Sensory changes and limb weakness were present in nine of the enrolled patients. The laboratory findings revealed that seven patients had high homocysteine levels and five had high methylmalonic acid levels in their blood. Nerve conductions studies indicated that axonal neuropathy was present in four cases and longer F-wave and Hoffman’s-reflex latencies were present in two cases. Signal changes in cervical spine imaging occurred in five patients, while two had normal results.
Conclusions Chronic N2O abuse can cause neurological damage or psychiatric problems. Because N2O is illegal for recreational use in Korea, patients tend to hide their history of use. Even though the spinal imaging results were normal, clinicians should consider the possibility of N2O use, and further electrophysiological tests should be applied for precise evaluations.
Citations
Citations to this article as recorded by
The prevalence, risks, and detection of driving under the influence of nitrous oxide Frederick R. J. Vinckenbosch, Dinesh Durán Jiménez, Hendrik Helmerhorst, Albert Dahan, Leon Aarts, Floris Bikker, Eef Theunissen, Johannes G. Ramaekers WIREs Forensic Science.2024;[Epub] CrossRef
Nitrous‐oxide‐induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies L. T. Hassing, F. Y. Jiang, R. Zutt, S. Arends European Journal of Neurology.2024;[Epub] CrossRef
Severe Isolated Peripheral Polyneuropathy without Myelopathy after Nitrous Oxide Abuse: A Case Report Seung-Min Baek, Seungbok Lee, Yu-Mi Kim, Eun-Sil Kim Journal of Electrodiagnosis and Neuromuscular Dise.2022; 24(2): 50. CrossRef
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR.
Results Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients.
Conclusions Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.
Background s: Amyotrophic lateral sclerosis(ALS) is the neurodegenerative disease characterized by the progressive motor neurons degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) refers to ALS patients who occur before 25 years and typically had slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods We retrospectively investigated clinical characteristics of JALS patients, who met revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort from January 2002 to November 2018. To evaluate genetic background in JALS, we screened SOD1 mutation in all JALS patients using PCR.
Results Among 7 JALS patients, mean age was 22.1 years(± 2.19 years) and 4 patients were male. Most patients spent lesser than 12 months to diagnose, but one patient took 96 months for initial diagnosis. Assessing cognitive function, there was no patient with dementia. Progression rate of JALS during follow-up were usually slow (median[IQR], 0.31[0.11-0.52]) except patient with SOD1 mutation(3.40) and CLEC4C mutation(1.12). One patient revealed a family history of ALS with SOD1 mutation but we also detected SOD1 mutation among sporadic JALS patients.
Conclusion Although JALS patients with genetic mutations(SOD1-p.Asn87Ser, CLEC4C-p.Lys210*) showed faster progression than other JALS, 1 patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare, however it might be caused by low or incomplete penetrance of the genes or by small numbers of JALS patients. To investigate the other genetic causes of JALS without SOD1 mutation, a further study including detailed genetic analysis will be needed.
First
Prev
