Systemic lupus erythematosus presenting with holocord myelitis.

This is a report of a case of a 25-year-old woman, who presented with a rapidly progressive sensory-motor flaccid quadriparesis which had developed over a few days along with bladder and bowel involvement. She had a past history of photosensitive rash and joint pains along with mild-to-moderate grade fever; for which she had never been evaluated. Serological markers for systemic lupus erythematosus (SLE) were strongly positive and helped in establishing the diagnosis of SLE-related holocord myelitis. High-dose intravenous glucocorticoid followed by intravenous pulse cyclophosphamide was used to treat her and there was a significant improvement. In this case report, the diagnosis of SLE was made for the first time in a patient presenting with holocord myelitis.

Introduction

Systemic lupus erythematosus (SLE) is a systemic autoimmune connective tissue disease. It is a multisystem disorder involving cardiovascular system, skin, lungs, joints, liver, kidneys, and nervous system.[1]

Neurological symptoms are reported in SLE in up to 60% patients but acute lupus transverse myelitis (TM) occurs in only 1%–2%.[23] The term neuropsychiatric systemic lupus erythematosus (NPSLE) includes a wide range of presentations including psychosis, seizures, headaches, myelopathy, and cerebrovascular diseases.[4] Acute myelopathy, a very uncommon neurological manifestation, also known as lupus transverse myelitis (TM) occurs in approximately 1%–2% of SLE patients.[56] Longitudinally extensive transverse myelitis (LETM) refers to a rare and devastating type of TM that involves at least three contiguous vertebrae on T2-weighted magnetic resonance imaging (MRI).[7] In SLE, the onset of LETM is acute to subacute, characterized by severe low back pain, sphincter dysfunction, quadriparesis and a sensory level with or without constitutional symptoms.[8] Although there are various case reports in literature of LETM in SLE, holocord myelitis (extensive LETM, from involving medulla to conus) as its presenting feature is rare.

Case History

A 25-year-old woman presented with a 3-day history of fever and joint pains followed by numbness and weakness in lower limbs. Within 2 days of onset, she developed urinary retention, constipation with progression of weakness to upper limbs. At presentation, she was areflexic with flaccid quadriparesis with 0-1/5 power in lower and upper limbs, respectively, and mute plantars. She needed intubation and full ventilatory support. Sensory level was at D4 and bladder and bowel were involved. There was history of a photosensitive rash one year back along with complaints of pain in small joints of hands for last 6 months and intermittent low-grade fever for 4 months. Multiple cervical lymph nodes were detected 1 month back. FNAC reported caseating necrosis. She had been on ATT (HRZE) for 2 weeks.

Investigations revealed hemoglobin 9.0 g/L, WBC 6470/mm3 (72% neutrophils, 18% lymphocytes, 3% monocytes), and platelet count 4,05,000/mm3. Renal and liver function tests, coagulation profile, and serum ACE were normal. Urinalysis showed proteinuria 2+, 24-hour urinary protein was 0.59 g/day without any cast. ESR was 40, and C-reactive protein 15.9 mg/L. Serology for antinuclear antibodies was positive at 1:320 with a speckled pattern and anti-dsDNA was 807 IU/mL. Screening tests for lupus anticoagulant, anti-beta 2 glycoprotein I (IgG) antibody, antiphospholipid antibodies were negative. Beta 2 microglobulin was high (3026 ng/?mL) and complement C4 level was low (7.3 mg/?dL). Repeat biopsy showed reactive lymphadenitis with no evidence of caseating necrosis; TB PCR and gene-xpert were also negative. Results of NMO-IgG antibody, HIV 1& 2, HCV, and HbSAg were negative. Opening pressure on lumbar puncture was 12 cm, CSF leukocyte count was 50/mm3 with 100% mononuclear cells, glucose 43 mg/dL (blood glucose 92 mg/dL) and protein 73 mg/dL. CSF was negative for AFB, syphilis antibody, PCR for HSV, CMV and for malignant cytology. VEP and BAER were normal. MRI [Figure 1] revealed extensive spinal cord expansion with hyperintensity extending from lower medulla to conus, with normal brain. A diagnosis of holocord SLE myelitis was made.

Figure 1

(a) Spinal Sagittal T2-WI with longitudinally extensive spinal cord expansion and hyperintensity extending from lower medulla to conus (white arrows); (b) Post contrast Sagittal T1 shows patchy cord enhancement (solid white arrow); (c) Brain Axial FLAIR at lower pons level showing hyperintensity in central and dorsal pons (white arrowhead); (d) SWI does not show any foci of susceptibility signal changes; (e) Brain sagittal T2-WI shows hyperintensity in central and dorsal pons, and medulla (black arrowhead); (f) no contrast enhancement in brainstem following GAD administration

Patient was given pulse methyl-prednisolone followed by oral prednisolone 1 mg/kg/day. She stabilized and was extubated on day four. Pulse cyclophosphamide was given monthly for next 4 months. After 1 month, upper limb power improved to 4-/5 and sensory level dropped to D6, lower limb power remained 0/5. Repeat MRI after one month showed resolution of lesions [Figure 2]. At third follow-up, patient was stable, upper limb power was 5/5, lower limbs remained 0/5, sensory level had dropped to D10.

Figure 2

(a) Sagittal T2WI showing cord T2 hyperintensity in lower dorsal and conus region (white arrows) with significant reduction compared to first MRI; (b) Axial T2 FLAIR; (c) sagittal T2 with complete regression of signal abnormality in medulla and dorsal pons

Discussion

Lupus myelitis is a rare but serious complication of SLE. This patient presented with a holocord myelitis involving the entire spinal cord along with pons and medulla. The diagnosis of SLE was made after this presentation. The list of etiological possibilities in a patient presenting with LETM is long. A thorough history, detailed clinical examination, and appropriate diagnostic work-up is essential to establish the diagnosis. History of constitutional symptoms, clinical presentation, blood investigations, radiological signs, and CSF examination help in determining the cause of LETM.[9] In one study, out of 650 diagnosed SLE patients presenting over 10 years, only 6 had myelitis. In those six patients, one presented with myelitis as an initial presentation of SLE which was confirmed radiologically with features suggestive of short segment transverse myelitis.[10] In a recent systematic review, there were 22 published cases of LETM associated with SLE between 1966 and 2008. Of these, only 4 had holocord involvement with pons and medulla.[3] Majority of SLE myelitis cases reported in literature were antiphospholipid positive, up to 83% in one case series.[10] Positive antiphospholipid antibody increases the risk of neuropsychiatric damage. In this case, there was no neuropsychiatric manifestation and antiphospholipid antibody was also negative. Although the exact mechanism of spinal cord lesions in SLE is unknown, vasculitis and arterial thrombi leading to cord ischemia seem acceptable mechanisms.[8] Neurological disability in longitudinal myelitis affecting more than 4 segments is often severe in SLE with more inflammation compared to lesser segments affected.[3] It remains unclear if this patient would have fared better had SLE been diagnosed earlier.

To conclude, holocord myelitis (involvement of entire spinal cord with medulla and conus) remains a rare but important differential diagnosis of systemic lupus erythematosus.

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Conflicts of interest

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