BACKGROUND Human immunodeficiency virus(HIV)-associated dementia(HAD)is a subcortical form of dementia characterized by memory deficits and psychomotor slowing.However,HAD often presents with symptoms similar to those...BACKGROUND Human immunodeficiency virus(HIV)-associated dementia(HAD)is a subcortical form of dementia characterized by memory deficits and psychomotor slowing.However,HAD often presents with symptoms similar to those of Creutzfeldt-Jakob disease(CJD),particularly in patients with acquired immune deficiency syndrome(AIDS).CASE SUMMARY We report the case of a 54-year-old male who exhibited cognitive dysfunction and secondary behavioral changes following HIV infection and suspected prion exposure.The patient was diagnosed with HIV during hospitalization and his cerebrospinal fluid tested positive for 14-3-3 proteins.His electroencephalogram showed a borderline-abnormal periodic triphasic wave pattern.Contrast-enhanced magnetic resonance imaging revealed moderate encephalatrophy and demyelination.Initially,symptomatic treatment and administration of amantadine were pursued for presumed CJD,but the patient’s condition continued to deteriorate.By contrast,the patient’s condition improved following anti-HIV therapy.This individual is also the only patient with this prognosis to have survived over 4 years.Thus,the diagnosis was revised to HAD.CONCLUSION In the diagnostic process of rapidly progressive dementia,it is crucial to rule out as many potential causes as possible and to consider an autopsy to diminish diagnostic uncertainty.The 14-3-3 protein should not be regarded as the definitive marker for CJD.Comprehensive laboratory screening for infectious diseases is essential to enhance diagnostic precision,especially in AIDS patients with potential CJD.Ultimately,a trial of diagnostic treatment may be considered when additional testing is not feasible.展开更多
BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused ...BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.展开更多
BACKGROUND Anti-melanoma differentiation-associated gene 5 antibody-positive(anti-MDA5 Ab+)dermatomyositis complicated with rapidly progressive interstitial lung disease(anti-MDA5 Ab+DM-RP-ILD)has an unclear underlyin...BACKGROUND Anti-melanoma differentiation-associated gene 5 antibody-positive(anti-MDA5 Ab+)dermatomyositis complicated with rapidly progressive interstitial lung disease(anti-MDA5 Ab+DM-RP-ILD)has an unclear underlying mechanism with no recommended unified treatment plan.Herein,one of the cases that we report(Case 2)was successfully treated with tocilizumab despite having lung infection.CASE SUMMARY Case 1 was a 30-year-old woman who was admitted due to recurrent rash for 5 mo,fever and cough for 1 mo,and chest tightness for 3 d.She was diagnosed with non-myopathic dermatomyositis(anti-MDA5 Ab+)and interstitial pneumonia,and was treated with the combination of hormone therapy and cyclophosphamide followed by oral tacrolimus.Case 2 was a 31-year-old man admitted due to systemic rash accompanied by muscle weakness of limbs for more than 1 mo,and chest tightness and dry cough for 4 d.He was diagnosed with dermatomyositis(anti-MDA5 Ab+)and acute interstitial pneumonia with Pneumocystis jirovecii and Aspergillus fumigatus infections and was treated with hormone therapy(without cyclophosphamide)and the combination of tocilizumab and tacrolimus.The condition of both patients eventually improved and they were discharged and showed clinically stable condition at the latest follow-up.CONCLUSION Tocilizumab could be a salvage treatment for patients with anti-MDA5 Ab+DMRP-ILD who are refractory to intensive immunosuppression.展开更多
文摘BACKGROUND Human immunodeficiency virus(HIV)-associated dementia(HAD)is a subcortical form of dementia characterized by memory deficits and psychomotor slowing.However,HAD often presents with symptoms similar to those of Creutzfeldt-Jakob disease(CJD),particularly in patients with acquired immune deficiency syndrome(AIDS).CASE SUMMARY We report the case of a 54-year-old male who exhibited cognitive dysfunction and secondary behavioral changes following HIV infection and suspected prion exposure.The patient was diagnosed with HIV during hospitalization and his cerebrospinal fluid tested positive for 14-3-3 proteins.His electroencephalogram showed a borderline-abnormal periodic triphasic wave pattern.Contrast-enhanced magnetic resonance imaging revealed moderate encephalatrophy and demyelination.Initially,symptomatic treatment and administration of amantadine were pursued for presumed CJD,but the patient’s condition continued to deteriorate.By contrast,the patient’s condition improved following anti-HIV therapy.This individual is also the only patient with this prognosis to have survived over 4 years.Thus,the diagnosis was revised to HAD.CONCLUSION In the diagnostic process of rapidly progressive dementia,it is crucial to rule out as many potential causes as possible and to consider an autopsy to diminish diagnostic uncertainty.The 14-3-3 protein should not be regarded as the definitive marker for CJD.Comprehensive laboratory screening for infectious diseases is essential to enhance diagnostic precision,especially in AIDS patients with potential CJD.Ultimately,a trial of diagnostic treatment may be considered when additional testing is not feasible.
基金Supported by The Department of Science and Technology of Guizhou Province,No.[2020]1Y299National Natural Science Foundation of China,No.82060123+2 种基金National Health Commission of Guizhou Province,No.gzwjk2019-1-082Doctor Start Fund of Affiliated Hospital of Guizhou Medical University,No.gyfybsky-2021-28National Natural Cultivation Fund of Affiliated Hospital of Guizhou Medical University,No.Ⅰ-2020-12.
文摘BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.
文摘BACKGROUND Anti-melanoma differentiation-associated gene 5 antibody-positive(anti-MDA5 Ab+)dermatomyositis complicated with rapidly progressive interstitial lung disease(anti-MDA5 Ab+DM-RP-ILD)has an unclear underlying mechanism with no recommended unified treatment plan.Herein,one of the cases that we report(Case 2)was successfully treated with tocilizumab despite having lung infection.CASE SUMMARY Case 1 was a 30-year-old woman who was admitted due to recurrent rash for 5 mo,fever and cough for 1 mo,and chest tightness for 3 d.She was diagnosed with non-myopathic dermatomyositis(anti-MDA5 Ab+)and interstitial pneumonia,and was treated with the combination of hormone therapy and cyclophosphamide followed by oral tacrolimus.Case 2 was a 31-year-old man admitted due to systemic rash accompanied by muscle weakness of limbs for more than 1 mo,and chest tightness and dry cough for 4 d.He was diagnosed with dermatomyositis(anti-MDA5 Ab+)and acute interstitial pneumonia with Pneumocystis jirovecii and Aspergillus fumigatus infections and was treated with hormone therapy(without cyclophosphamide)and the combination of tocilizumab and tacrolimus.The condition of both patients eventually improved and they were discharged and showed clinically stable condition at the latest follow-up.CONCLUSION Tocilizumab could be a salvage treatment for patients with anti-MDA5 Ab+DMRP-ILD who are refractory to intensive immunosuppression.
