Pitfalls in the diagnosis of a tumefactive demyelinating lesion: A case report

<p>Abstract</p> <p>Introduction</p> <p>In rare instances, demyelinating disorders manifest as tumefactive lesions that simulate brain tumors. We report a patient with a space-occupying lesion in the parietal lobe, which presented a serious diagnostic dilemma, between a rare tumefactive demyelinating disease, such as Balo concentric sclerosis and a glioma. This case report highlights important diagnostic clues in the differential diagnosis of Balo concentric sclerosis.</p> <p>Case presentation</p> <p>A 20-year-old Caucasian woman with acute onset of left-sided weakness and numbness was admitted to hospital with neurologic signs of left-sided hemiparesis and hypoesthesia. Brain magnetic resonance imaging showed a mass lesion of abnormal signal intensity with concentric enhancing rings in the right parietal lobe, without perifocal edema. The characteristic concentric pattern detected on the magnetic resonance images was highly suggestive of Balo disease, and corticosteroids were administered. Evoked potentials, cerebrospinal fluid analysis, and magnetic spectroscopy findings were not specific, and glioma was also included in the differential diagnosis. A stereotactic biopsy was not diagnostic.</p> <p>After one month the patient showed moderate clinical improvement, and during 12 months follow-up, no further relapses occurred. In the follow-up magnetic resonance imaging, the concentric pattern had completely disappeared, and only a low-signal, gliotic lesion remained.</p> <p>Conclusion</p> <p>We hope this case presentation will advance our understanding of clinical and radiologic appearance of Balo concentric sclerosis, which is a rare demyelinating disease. Although this is a specific entity, it has a broader clinical impact across medicine, because it must be differentiated from other space-occupying lesions in the central nervous system.</p

Multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension

BACKGROUND: We aimed to create a multidisciplinary consensus clinical guideline for best practice in the diagnosis, investigation and management of spontaneous intracranial hypotension (SIH) due to cerebrospinal fluid leak based on current evidence and consensus from a multidisciplinary specialist interest group (SIG). METHODS: A 29-member SIG was established, with members from neurology, neuroradiology, anaesthetics, neurosurgery and patient representatives. The scope and purpose of the guideline were agreed by the SIG by consensus. The SIG then developed guideline statements for a series of question topics using a modified Delphi process. This process was supported by a systematic literature review, surveys of patients and healthcare professionals and review by several international experts on SIH. RESULTS: SIH and its differential diagnoses should be considered in any patient presenting with orthostatic headache. First-line imaging should be MRI of the brain with contrast and the whole spine. First-line treatment is non-targeted epidural blood patch (EBP), which should be performed as early as possible. We provide criteria for performing myelography depending on the spine MRI result and response to EBP, and we outline principles of treatments. Recommendations for conservative management, symptomatic treatment of headache and management of complications of SIH are also provided. CONCLUSIONS: This multidisciplinary consensus clinical guideline has the potential to increase awareness of SIH among healthcare professionals, produce greater consistency in care, improve diagnostic accuracy, promote effective investigations and treatments and reduce disability attributable to SIH

Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis

Atypical imaging features of multiple sclerosis lesions include size >2 cm, mass effect, oedema and/or ring enhancement. This constellation is often referred to as ‘tumefactive multiple sclerosis’. Previous series emphasize their unifocal and clinically isolated nature, however, evolution of these lesions is not well defined. Biopsy may be required for diagnosis. We describe clinical and radiographic features in 168 patients with biopsy confirmed CNS inflammatory demyelinating disease (IDD). Lesions were analysed on pre- and post-biopsy magnetic resonance imaging (MRI) for location, size, mass effect/oedema, enhancement, multifocality and fulfilment of Barkhof criteria. Clinical data were correlated to MRI. Female to male ratio was 1.2 : 1, median age at onset, 37 years, duration between symptom onset and biopsy, 7.1 weeks and total disease duration, 3.9 years. Clinical course prior to biopsy was a first neurological event in 61%, relapsing–remitting in 29% and progressive in 4%. Presentations were typically polysymptomatic, with motor, cognitive and sensory symptoms predominating. Aphasia, agnosia, seizures and visual field defects were observed. At follow-up, 70% developed definite multiple sclerosis, and 14% had an isolated demyelinating syndrome. Median time to second attack was 4.8 years, and median EDSS at follow-up was 3.0. Multiple lesions were present in 70% on pre-biopsy MRI, and in 83% by last MRI, with Barkhof criteria fulfilled in 46% prior to biopsy and 55% by follow-up. Only 17% of cases remained unifocal. Median largest lesion size on T2-weighted images was 4 cm (range 0.5–12), with a discernible size of 2.1 cm (range 0.5–7.5). Biopsied lesions demonstrated mass effect in 45% and oedema in 77%. A strong association was found between lesion size, and presence of mass effect and/or oedema (P < 0.001). Ring enhancement was frequent. Most tumefactive features did not correlate with gender, course or diagnosis. Although lesion size >5 cm was associated with a slightly higher EDSS at last follow-up, long-term prognosis in patients with disease duration >10 years was better (EDSS 1.5) compared with a population-based multiple sclerosis cohort matched for disease duration (EDSS 3.5; P < 0.001). Given the retrospective nature of the study, the precise reason for biopsy could not always be determined. This study underscores the diagnostically challenging nature of CNS IDDs that present with atypical clinical or radiographic features. Most have multifocal disease at onset, and develop RRMS by follow-up. Although increased awareness of this broad spectrum may obviate need for biopsy in many circumstances, an important role for diagnostic brain biopsy may be required in some cases

Optimizing the Definitions of Stroke, TIA and Infarction for Research and Application in Clinical Practice

Background and purposeUntil now, stroke and transient ischemic attack (TIA) have been clinically based terms which describe the presence and duration of characteristic neurological deficits attributable to intrinsic disorders of particular arteries supplying the brain, retina, or (sometimes) the spinal cord. Further, infarction has been pathologically defined as death of neural tissue due to reduced blood supply. Recently, it has been proposed we shift to definitions of stroke and TIA determined by neuroimaging results alone and that neuroimaging findings be equated with infarction.MethodsWe examined the scientific validity and clinical implications of these proposals using the existing published literature and our own experience in research and clinical practice.ResultsWe found that the proposals to change to imaging-dominant definitions, as published, are ambiguous and inconsistent. Therefore, they cannot provide the standardization required in research or its application in clinical practice. Further, we found that the proposals are scientifically incorrect because neuroimaging findings do not always correlate with the clinical status or the presence of infarction. In addition, we found that attempts to use the proposals are disrupting research, are otherwise clinically unhelpful and do not solve the problems they were proposed to solve.ConclusionWe advise that the proposals must not be accepted. In particular, we explain why the clinical focus of the definitions of stroke and TIA should be retained with continued sub-classification of these syndromes depending neuroimaging results (with or without other information) and that infarction should remain a pathological term. We outline ways the established clinically based definitions of stroke and TIA, and use of them, may be improved to encourage better patient outcomes in the modern era

NDIS: In Context

NDIS: In Context considers the NDIS in the Australian context. Giving consideration to the current state of support provision, while looking at where Australia sits in the broader context and commenting on why the NDIS is a logical step for Australia