The patient had a history of systemic lupus erythematosus (SLE) and antiphospholipid syndrome with positive anticardiolipin antibodies, which had been diagnosed more than 30 years earlier.
She had been treated with acenocoumarol, azathioprine, denosumab, and prednisolone.
On examination, the patient was distressed but her vital signs were normal. She had hypophonia, hypomimia, bilateral saccadic horizontal eye movements, and supranuclear upward gaze palsy. She had symmetrical brisk reflexes in all limbs with normal plantar reflexes; rigidity was found in both arms and legs with her right side affected more than her left. She had symmetrical bradykinesia in all limbs, and a resting and postural tremor bilaterally, that was more severe on her right side. The patient had a festinated gait and she needed support with walking; she had no arm swing, and episodically, experienced freezing (video).
She had been treated with acenocoumarol, azathioprine, denosumab, and prednisolone.
On examination, the patient was distressed but her vital signs were normal. She had hypophonia, hypomimia, bilateral saccadic horizontal eye movements, and supranuclear upward gaze palsy. She had symmetrical brisk reflexes in all limbs with normal plantar reflexes; rigidity was found in both arms and legs with her right side affected more than her left. She had symmetrical bradykinesia in all limbs, and a resting and postural tremor bilaterally, that was more severe on her right side. The patient had a festinated gait and she needed support with walking; she had no arm swing, and episodically, experienced freezing (video).
T2 weighted MRI of the patient's brain showed hyperintense confluent lesions of the basal ganglia and thalami with multiple foci of restricted diffusion located in both supratentorial and infratentorial regions; bilateral peripheral microbleeds were seen on susceptibility weighted images (figure). The lesions showed no contrast enhancement and MRI of vessel walls showed no signs of vasculitis.
Systemic lupus erythematosus and catastrophic antiphospholipid syndrome
Systemic lupus erythematosus and catastrophic antiphospholipid syndrome
Transthoracic echocardiography findings were inconclusive—specifically, we were unable to rule out the presence of valvular vegetations. Weighing up the pros and cons of carrying out an invasive procedure and further therapeutic interventions, we decided against a transoesophageal echocardiogram.
Cerebrospinal fluid (CSF) analysis showed a normal leukocyte count of 2 cells per μL (normal <4) and protein concentration of 445 mg/L (normal range 215–720); a slightly elevated glucose concentration of 4·7 mmol/L (normal range 3·0–4·0), with a low glucose CSF to serum ratio of 0·45 (normal range 0·51–0·81); and a slightly elevated L-lactate concentration of 2·33 μmol/L (normal range 1·42–2·22). Identical oligoclonal IgG bands were present in the CSF and serum.
Repeated blood and CSF cultures remained negative. We considered the probable diagnosis to be a flare-up of the patient's SLE with striatal encephalitis and catastrophic antiphospholipid syndrome.
Repeated blood and CSF cultures remained negative. We considered the probable diagnosis to be a flare-up of the patient's SLE with striatal encephalitis and catastrophic antiphospholipid syndrome.
Despite early aggressive immunosuppressive therapy, which included corticosteroids, cyclophosphamide, plasmapheresis, rituximab, and intravenous immunoglobulin, and anticoagulant treatment with low-molecular-weight heparin, the patient developed multiorgan failure and died 2 months after admission.
At autopsy, a Libman-Sachs endocarditis of the aortic and mitral valves, with signs of recent and semi-recent ischaemia in multiple organs caused by microthrombi, including the brain, kidneys, coronary arteries, and lungs were seen; histopathological analysis of a specimen of the brain showed central nuclei with foci of ischaemic alterations with foamy macrophages (appendix). Additionally, sporadic perivascular lymphocytic infiltration of the basal ganglia was seen; however, as this may be secondary to the presence of thrombi, we were unable to conclusively diagnose either encephalitis or vasculitis. No abnormalities were seen in the substantia nigra. Therefore, the cause of death was multiorgan failure due to microthrombi resulting from Libman-Sachs endocarditis and catastrophic antiphospholipid syndrome. We assumed the extensive hyperintense lesions of the basal ganglia were related to an SLE-mediated striatal encephalitis, since they did not correspond to the brain regions showing multifocal ischaemia.
SLE and antiphospholipid syndrome both have very varied clinical presentations. Catastrophic antiphospholipid syndrome, while uncommon in SLE, is often fatal. Severe disease flares in SLE and catastrophic antiphospholipid syndrome require prompt, extensive treatment by a multidisciplinary team.
Contributors
We all provided care for the patient and contributed to writing and editing the manuscript. Written consent was obtained from the patient's husband.
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SLE and antiphospholipid syndrome both have very varied clinical presentations. Catastrophic antiphospholipid syndrome, while uncommon in SLE, is often fatal. Severe disease flares in SLE and catastrophic antiphospholipid syndrome require prompt, extensive treatment by a multidisciplinary team.
Contributors
We all provided care for the patient and contributed to writing and editing the manuscript. Written consent was obtained from the patient's husband.
• View related content for this article
по ссылке приложение и проч., но нало аккаунт на Ланцете
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