BACKGROUND Miller fisher syndrome(MFS)is a variant of Guillain-Barrésyndrome,an acute immune-mediated peripheral neuropathy that is often secondary to viral infections.Anti-ganglioside antibodies play crucial rol...BACKGROUND Miller fisher syndrome(MFS)is a variant of Guillain-Barrésyndrome,an acute immune-mediated peripheral neuropathy that is often secondary to viral infections.Anti-ganglioside antibodies play crucial roles in the development of MFS.The positive rate of ganglioside antibodies is exceptionally high in MFS patients,particularly for anti-GQ1b antibodies.However,the presence of other ganglioside antibodies does not exclude MFS.CASE SUMMARY We present a 56-year-old female patient who suddenly developed right blepharoptosis and progressively worsening vision in both eyes.There were flu symptoms prior to onset,and a coronavirus disease 2019 test was positive.On physical examination,the patient exhibited bilateral extraocular muscle paralysis,weakened reflexes in both limbs,and impaired coordination.The cerebrospinal fluid examination results showed no obvious abnormalities.Bilateral peroneal nerve F-waves were not extracted.Serum anti-GD1b IgG and anti-GT1a IgG antibodies were positive.The patient received intravenous methylprednisolone(1000 mg/day),with the dosage gradually decreased.Additionally,intravenous high-dose immunoglobulin treatment was administered for 5 days(0.4 g/kg/day)from day 2 to day 6 of hospitalization.The patient’s symptoms improved after treatment with immunoglobulins and hormones.CONCLUSION Positive ganglioside antibodies may be used as supporting evidence for the diagnosis;however,the diagnosis of MFS is more reliant on clinical symptoms.展开更多
BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS...BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.展开更多
BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme tha...BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme that catalyzes the production ofγ-aminobutyric acid(GABA),a major inhibitory neurotransmitter of the central nervous system.SPS is an autoimmune disease triggered by antiglutamic acid decarboxylase antibody(anti-GAD Ab).Clinically,anti-GAD Ab is associated with SPS,type 1 diabetes mellitus(T1DM),and other autoimmune diseases.AIM To investigate the link of autoimmune endocrine disorders with anti-GAD Ab in SPS subjects.METHODS This retrospective study was approved by the Institutional Review Board of Chang Gung Memorial Hospital,Taiwan.We collected the patients with SPS from January 2001 to June 2018.By reviewing 14 patients from medical records,we analyzed the clinical findings with coexisting autoimmune diseases,particularly diabetes mellitus and thyroid disease,which are associated with anti-GAD antibody titers or other immunological test results(anti-thyroid peroxidase and anti-nuclear antibodies).We also evaluated malignancies,major complications,and reported treatment to improve symptoms.Anti-GAD antibodies were measured using radioimmunoassay and enzyme-linked immunosorbent assay(ELISA).The cut-off values of these tests are<1 U/mL and<5 U/mL,respectively.RESULTS The median age of all patients was 39.3(range,28.0-54.0)years with a median follow-up period of 6.0(2.7-13.3)years.Five(35.7%)patients were female;twelve(85.7%)were diagnosed with classic SPS and two(14.3%)with SLS.The median age of onset of symptoms was 35.0(26.0-56.0)years with a median follow-up duration of 9.0(2.1-14.9)years in the classic SPS group;the SLS group had a median age of onset of 46.7 years and a shorter follow-up duration of 4.3 years.Among nine classic SPS patients who underwent the anti-GAD Ab test,three were anti-GAD Ab seropositive and each of these three patients also had T1DM,latent autoimmune diabetes in adults,and autoimmune thyroid disease,respectively.In contrast,other rare autoimmune diseases co-existed in six anti-GAD Ab seronegative SPS patients.None of the SLS patients had additional autoimmune diseases.CONCLUSION While typical clinical symptoms are crucial for the diagnosis of SPS,the presence of anti-GAD autoantibody may consolidate the diagnosis and predict the association with other autoimmune diseases.展开更多
Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria a...Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria are the presence of antiphospholipid antibodies(lupus anticoagulant,anticardiolipin antibodies and anti-β2-glycoprotein-1).The presence of at least 1 clinical and 1 laboratory criterion allows definitive diagnosis of APS.Primary APS is diagnosed in patients without features of connective tissue disease;secondary APS is diagnosed in patients with clinical signs of autoimmune disease.A high frequency of catastrophic APS as well as a high tendency to evolve from primary APS to secondary syndrome during the course of lupus and lupus-like disease is a feature of pediatric APS.The most characteristic clinical presentation of APS in the pediatric population is venous thrombosis,mainly in the lower limbs,and arterial thrombosis causing ischemic brain stroke.Currently,no diagnostic criteria for pediatric APS exist,which probably results in an underestimation of the problem.Similarly,no therapeutic procedures for APS specific for children have yet been established.In the present literature review,we discussed data concerning APS in children and its role in cerebrovascular diseases,including pediatric arterial ischemic stroke,migraine and cerebral venous thrombosis.展开更多
We report a 50-year-old woman who developed localized proximal muscle weakness, in addition to transient elevation of antibodies to GM-1 ganglioside, without multifocal conduction block. She was treated with intraveno...We report a 50-year-old woman who developed localized proximal muscle weakness, in addition to transient elevation of antibodies to GM-1 ganglioside, without multifocal conduction block. She was treated with intravenous immunoglobulin (IVIg) and steroid pulse therapy, which were effective for over 10 years. Her clinical course and laboratory tests were consistent with lower motor neuron syndrome (LMNS) with localized proximal muscle weakness. We suggest that some patients diagnosed as LMNS may remain responsive to IVIg or steroid pulse therapy for a long time.展开更多
文摘BACKGROUND Miller fisher syndrome(MFS)is a variant of Guillain-Barrésyndrome,an acute immune-mediated peripheral neuropathy that is often secondary to viral infections.Anti-ganglioside antibodies play crucial roles in the development of MFS.The positive rate of ganglioside antibodies is exceptionally high in MFS patients,particularly for anti-GQ1b antibodies.However,the presence of other ganglioside antibodies does not exclude MFS.CASE SUMMARY We present a 56-year-old female patient who suddenly developed right blepharoptosis and progressively worsening vision in both eyes.There were flu symptoms prior to onset,and a coronavirus disease 2019 test was positive.On physical examination,the patient exhibited bilateral extraocular muscle paralysis,weakened reflexes in both limbs,and impaired coordination.The cerebrospinal fluid examination results showed no obvious abnormalities.Bilateral peroneal nerve F-waves were not extracted.Serum anti-GD1b IgG and anti-GT1a IgG antibodies were positive.The patient received intravenous methylprednisolone(1000 mg/day),with the dosage gradually decreased.Additionally,intravenous high-dose immunoglobulin treatment was administered for 5 days(0.4 g/kg/day)from day 2 to day 6 of hospitalization.The patient’s symptoms improved after treatment with immunoglobulins and hormones.CONCLUSION Positive ganglioside antibodies may be used as supporting evidence for the diagnosis;however,the diagnosis of MFS is more reliant on clinical symptoms.
基金Supported by the Natural Science Foundation of Jiangxi Province,No.20202BAB206002 and No.20224BAB216084.
文摘BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.
文摘BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme that catalyzes the production ofγ-aminobutyric acid(GABA),a major inhibitory neurotransmitter of the central nervous system.SPS is an autoimmune disease triggered by antiglutamic acid decarboxylase antibody(anti-GAD Ab).Clinically,anti-GAD Ab is associated with SPS,type 1 diabetes mellitus(T1DM),and other autoimmune diseases.AIM To investigate the link of autoimmune endocrine disorders with anti-GAD Ab in SPS subjects.METHODS This retrospective study was approved by the Institutional Review Board of Chang Gung Memorial Hospital,Taiwan.We collected the patients with SPS from January 2001 to June 2018.By reviewing 14 patients from medical records,we analyzed the clinical findings with coexisting autoimmune diseases,particularly diabetes mellitus and thyroid disease,which are associated with anti-GAD antibody titers or other immunological test results(anti-thyroid peroxidase and anti-nuclear antibodies).We also evaluated malignancies,major complications,and reported treatment to improve symptoms.Anti-GAD antibodies were measured using radioimmunoassay and enzyme-linked immunosorbent assay(ELISA).The cut-off values of these tests are<1 U/mL and<5 U/mL,respectively.RESULTS The median age of all patients was 39.3(range,28.0-54.0)years with a median follow-up period of 6.0(2.7-13.3)years.Five(35.7%)patients were female;twelve(85.7%)were diagnosed with classic SPS and two(14.3%)with SLS.The median age of onset of symptoms was 35.0(26.0-56.0)years with a median follow-up duration of 9.0(2.1-14.9)years in the classic SPS group;the SLS group had a median age of onset of 46.7 years and a shorter follow-up duration of 4.3 years.Among nine classic SPS patients who underwent the anti-GAD Ab test,three were anti-GAD Ab seropositive and each of these three patients also had T1DM,latent autoimmune diabetes in adults,and autoimmune thyroid disease,respectively.In contrast,other rare autoimmune diseases co-existed in six anti-GAD Ab seronegative SPS patients.None of the SLS patients had additional autoimmune diseases.CONCLUSION While typical clinical symptoms are crucial for the diagnosis of SPS,the presence of anti-GAD autoantibody may consolidate the diagnosis and predict the association with other autoimmune diseases.
文摘Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria are the presence of antiphospholipid antibodies(lupus anticoagulant,anticardiolipin antibodies and anti-β2-glycoprotein-1).The presence of at least 1 clinical and 1 laboratory criterion allows definitive diagnosis of APS.Primary APS is diagnosed in patients without features of connective tissue disease;secondary APS is diagnosed in patients with clinical signs of autoimmune disease.A high frequency of catastrophic APS as well as a high tendency to evolve from primary APS to secondary syndrome during the course of lupus and lupus-like disease is a feature of pediatric APS.The most characteristic clinical presentation of APS in the pediatric population is venous thrombosis,mainly in the lower limbs,and arterial thrombosis causing ischemic brain stroke.Currently,no diagnostic criteria for pediatric APS exist,which probably results in an underestimation of the problem.Similarly,no therapeutic procedures for APS specific for children have yet been established.In the present literature review,we discussed data concerning APS in children and its role in cerebrovascular diseases,including pediatric arterial ischemic stroke,migraine and cerebral venous thrombosis.
文摘We report a 50-year-old woman who developed localized proximal muscle weakness, in addition to transient elevation of antibodies to GM-1 ganglioside, without multifocal conduction block. She was treated with intravenous immunoglobulin (IVIg) and steroid pulse therapy, which were effective for over 10 years. Her clinical course and laboratory tests were consistent with lower motor neuron syndrome (LMNS) with localized proximal muscle weakness. We suggest that some patients diagnosed as LMNS may remain responsive to IVIg or steroid pulse therapy for a long time.
