Neuroradiological Improvement Research Articles

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease.

Neurological Wilson's disease (WD) presentation in the pediatric population is rare, and liver transplantation (LT) in these patients remains controversial. The aim of the present study was to assess the role of brain magnetic resonance imaging (MRI) in predicting reversion of brain lesions and neurological outcomes in pediatric WD patients after LT. Patients with confirmed WD (Leipzig score ≥4), disease onset in pediatric age (<18 years), neurological involvement, and submitted to LT were selected. Clinical records and pre- and post-LT brain MRI were evaluated. Six patients met the pre-defined inclusion criteria, one of whom died shortly after LT and was excluded. The indication for LT was end-stage liver disease in two patients and neurological worsening despite optimized treatment in three patients. After LT, the neurological picture progressively improved in all patients. Pre-LT brain MRI showed T1-weighted hyperintensities in four patients, which quickly resolved afterward. T2-weighted hyperintensities were observed in four patients before LT, completely resolving in one patient, stabilizing in two, and improving in one after LT. A direct correlation could not be found between clinical and neuroradiological improvement. Progressive clinical improvement was observed even in patients with irreversible brain MRI changes. Conversely, some patients with normal MRI had only slight neurological improvement. The pattern of T2-weighted hyperintensities after LT was unpredictable and did not correlate with neurological outcomes, suggesting that these changes may not entail irreversible clinical damage. Therefore, brain MRI does not seem to have prognostic value for assessing clinical response to LT.

Diagnosis, treatment, and follow-up of patients with cerebral amyloid angiopathy-related inflammation

PurposeCerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare potentially reversible encephalopathy associated with an autoimmune process against proteins deposited in the walls of cortical and leptomeningeal brain vessels. Definite diagnosis requires histopathological features of vascular inflammation and amyloid deposition from brain biopsy. Clinical-neuroradiological criteria have been recently introduced and validated to reduce the need for biopsy. The purpose of this paper is to report a historical retrospective review of clinical-neuroradiological follow-up of two patients with probable CAA-ri and five patients with a reasonably probable suspect of CAA-ri (4 females, 3 males, patient’s age at admission: 66–79 years) seen at our institution between 2007 and 2021, focusing on clinical and neuroradiological awareness to this entity and variable response to immunotherapy.Materials and methodsClinical features at presentation included subacute to acute confusion (6/7), seizures (4/7), cognitive impairment (5/7), and focal neurological signs (3/7). Neuroradiology included braincomputed tomography followed by magnetic resonance imaging. Infectious diseases and autoimmune workups were then performed.ResultsCSF analysis was performed in two patients. Cerebral angiography was performed in two patients, to rule out vascular malformations. Hemorrhagic posterior reversible encephalopathy syndrome has been suspected in two patients. Four patients underwent immunotherapy with corticosteroids followed by reduction of brain dysfunctions. Three patients did not undergo immunotherapy but underwent clinical and/or neuroradiological remission.ConclusionsPatients with CAA-ri present a rare steroid-responsive acute to subacute brain dysfunction. Thus, it has to be known and recognized both clinically and neuroradiologically. Spontaneous clinical and/or neuroradiological improvement is possible in patients with mild symptoms.

Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy.

Neurodegeneration with brain iron accumulation (NBIA) comprises various rare clinical entities with brain iron overload as a common feature. Magnetic resonance imaging (MRI) allows diagnosis of this condition, and genetic molecular testing can confirm the diagnosis to better understand the intracellular damage mechanism involved. NBIA groups disorders include: pantothenate kinase-associated neurodegeneration (PKAN), mutations in the gene encoding pantothenate kinase 2 (PANK2); neuroferritinopathy, mutations in the calcium-independent phospholipase A2 gene (PLA2G6); aceruloplasminemia; and other subtypes with no specific clinical or MRI specific patterns identified. There is no causal therapy, and only symptom treatments are available for this condition. Promising strategies include the use of deferiprone (DFP), an orally administered bidentate iron chelator with the ability to pass through the blood–brain barrier. This is a prospective study analysis with a mean follow-up time of 5.5 ± 2.3 years (min–max: 2.4–9.6 years) to define DFP (15 mg/kg bid)’s efficacy and safety in the continuous treatment of 10 NBIA patients through clinical and neuroradiological evaluation. Our results show the progressive decrease in the cerebral accumulation of iron evaluated by MRI and a substantial stability of the overall clinical neurological picture without a significant correlation between clinical and radiological findings. Complete ferrochelation throughout the day appears to be of fundamental importance considering that oxidative damage is generated, above, all by non-transferrin-bound iron (NTBI); thus, we hypothesize that a (TID) administration regimen of DFP might better apply its chelating properties over 24 h with the aim to also obtain clinical improvement beyond the neuroradiological improvement.

Efficacy of Tocilizumab in Limbic Encephalitis with Anti-CASPR2 Antibodies

We report the case of a 64-year-old man who presented with subacute memory, balance impairment, behavioral and mood changes, and epileptic seizures. Magnetic resonance imaging (MRI) showed bilateral hippocampal abnormalities. Brain [18F]-FDG fluorodeoxyglucose positron emission tomography (PET) revealed hypometabolism in both the temporal lobe as well as in the left insular and parietal regions. The clinical and neuroradiological picture and the detection of anti-CASPR2 antibodies in serum oriented the diagnosis towards autoimmune limbic encephalitis. Intravenous high-dose steroid and immunoglobulin treatments were ineffective. We did not use rituximab for the presence of antibodies to HbcAg positivity. Tocilizumab given intravenously 8 mg/kg once a month for six months and then subcutaneously 162 mg every week for six months resulted in clinical and neuroradiological improvement. These data support the efficacy of tocilizumab in autoimmune limbic encephalitis associated with anti-CASPR2 antibodies, which has been sporadically reported in the literature.

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

BackgroundAicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial “encephalitic-like” phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. Materials and methodsWe reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. ResultsAll three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. ConclusionsOur series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.

Radiologic Improvement After Early Medical Intervention in Localised Facial Morphea

We report the case of a young girl who presented with hemiparesis, seizures, and subtle features consistent with a linear form of facial morphea (en coup de sabre). She was treated with pulsed parenteral steroids and oral steroids and started on methotrexate. Magnetic resonance imaging results and neurologic problems improved after 6 months. Switching off inflammation early in the course of disease seemed to reverse some of the central nervous system changes. Assessment of children with unexplained hemiparesis and seizures should include careful examination of the face and scalp, looking for subtle signs of skin change and asymmetry. This is one of the few reported cases of neuroradiologic improvement after immunosuppressive treatment in a child with en coup de sabre.

Adult-onset Leigh′s disease: A rare entity

Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic acidosis and who subsequently showed dramatic clinical and neuroradiological improvement.

Early Diagnosis and Management of Cerebral Venous Flow Obstruction Secondary to Transsinus Fracture after Traumatic Brain Injury

Background and PurposeCerebral venous flow obstruction (CVFO) is a fatal complication of traumatic brain injury. To compare the outcomes of patients with CVFO secondary to traumatic-brain-injury-induced transsinus fracture who were diagnosed early versus those diagnosed late in the therapeutic course.MethodsIn total, 403 patients with transsinus fracture were reviewed retrospectively. The patients were divided into an early-diagnosis group (n=338) and a delayed-diagnosis group (n=65). The patients submitted to 2D time-of-flight magnetic resonance venography (2D-TOF MRV) and/or CT venography (CTV), depending upon the findings of intracranial pressure monitoring, in order to identify potentially complicated CVFO. These examinations took place within 3 days of the onset of malignant intracranial hypertension symptoms in the early-diagnosis group, and after an average of 7 days in the delayed-diagnosis group. Once diagnosed, patients received intravenous thrombolytic therapy with low-dose urokinase. Patients with massive transsinus epidural hematoma, depressed fracture, or cerebral hernia were treated surgically to relieve the compression and repair any damage to the venous sinuses.ResultsCerebral venous flow obstruction was much more severe in the delayed-diagnosis group than in the early-diagnosis group (p<0.001), and hence patients in the former group were given a higher dose of urokinase (p<0.001) for thrombolytic therapy. They were also significantly more likely to need surgery (48.1% vs. 20.6%, p=0.003) and had a higher mortality rate (37.0% vs. 4.1%, p<0.001). However, patients in both groups experienced a similarly favorable prognosis, not only with regard to functional outcome but also with respect to neuroradiological improvement, as evaluated by 2D-TOF MRV/CTV at the final follow-up (p=0.218).ConclusionsDelayed diagnosis can result in increased risk of surgery and death in the acute phase. Thrombolytic therapy with low-dose urokinase resulted in promising improvements in both functional and neuroradiological outcomes in all of the patients in this study, regardless of the time to diagnosis.

Biotin-responsive basal ganglia disease revisited

To investigate the clinical, genetic, and neuroradiologic data of biotin-responsive basal ganglia disease (BBGD) and clarify the disease spectrum. We first investigated all patients attending our Division of Pediatric Neurology with a genetically proven diagnosis of BBGD between 2009 and 2011. All patients underwent a detailed medical history and clinical examination, extensive laboratory investigations including genetic tests, and brain MRI. Finally, we conducted a systematic review of the literature. We enrolled 10 patients meeting the diagnostic criteria for BBGD, and analyzed the data on 14 patients from 4 previous reports. The BBGD occurred predominantly in preschool/school-aged patients in the Saudi population, but it was also observed in other ethnic groups. The typical clinical picture consisted of recurrent subacute encephalopathy leading to coma, seizures, and extrapyramidal manifestations. The brain MRI typically showed symmetric and bilateral lesions in the caudate nucleus and putamen, infra- and supratentorial brain cortex, and in the brainstem. Vasogenic edema characterized the acute crises as demonstrated by diffusion-weighted imaging/apparent diffusion coefficient MRI. Atrophy and gliosis in the affected regions were observed in patients with chronic disease. Early treatment with a combination of biotin and thiamine resulted in clinical and neuroradiologic improvement. Death and neurologic sequelae including dystonia, mental retardation, and epilepsy were observed in those who were not treated or were treated late. BBGD is an underdiagnosed pan-ethnic treatable condition. Clinicians caring for patients with unexplained encephalopathy and neuroimaging showing vasogenic edema in the bilateral putamen and caudate nuclei, infra- and supratentorial cortex, and brainstem should consider this disorder early in the hospital course because a therapeutic trial with biotin and thiamine can be lifesaving.

A new case of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids with initial normal magnetic resonance imaging

Sir, We read with great interest the recent article published in Brain by Pittock et al. (2010), who reported eight patients with clinical, radiological and pathological features of brainstem involvement responsive (but dependent) to steroid treatment. All the reported patients shared common clinical and MRI findings: gait ataxia, diplopia, patchy increased T2 signal and gadolinium enhancement within the pons and the middle cerebellar peduncles, the presence of oligoclonal bands on CSF analysis, and normal cerebral angiography. Involvement of the medulla, the cerebellum, the midbrain, the basal ganglia, the corpus callosum and the spinal cord has also been described. Brain biopsy of four patients found white matter T-lymphocytic infiltrate with perivascular predominance. Steroids led to clinical and neuroradiological improvement in all patients, with steroid dependency in three (mean follow-up: 22 months, range: 7–144 months). CLIPPERS (acronym for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) was proposed to …

The fate of syringomyelia after surgical treatment of syringomyelia–Chiari I complex

We read with keen interest the article by Lucchetta et al. [1] about the surgical treatment of an 18-year-old man with symptomatic syringomyelia–Chiari I complex who underwent cranio-cervical decompression with neurological improvement and syrinx shrinkage. The authors conclude that clinical and neuroradiological improvement is uncommon in adult patients and recommend early surgery after diagnosis in order to obtain complete recovery. In fact, the recent neurosurgical literature [2–5] as well our experience [6, 7] does not support the authors’ conclusions on the postoperative outcome of patients with syringomyelia associated with Chiari I malformation. Recent surgical series [2–7] have reported a 70–80% rate of postoperative clinical improvement and a 60–100% rate of syrinx shrinkage after cranio-cervical decompression. According to these results, clinical and neuroradiological improvement after surgery or at least stabilization of the clinical syndrome is the rule. In the small cohort of patients with postoperative syringomyelia persistence, direct fluid diversion of the syrinx becomes necessary [8]. Although the natural history of the Chiari malformation remains elusive, the available data support the authors’ policy toward prompt surgical treatment of patients with symptomatic syringomyelia–Chiari I complex. More controversial is defining the management of asymptomatic and oligosymptomatic patients. Given the satisfactory results we achieved with extra-arachnoidal cranio-cervical decompression without duroplasty, actually we offer surgery also for oligosymptomatic patients with Chiari I malformation and syringomyelia–Chiari I complex [6, 7]. The extra-arachnoidal technique has proved to be a safe, and effective means of treating patients with syringomyelia–Chiari I complex allowing the syrinx to decrease in size or collapse in the majority of cases with an associated improvement in many of the neurological disturbances [6, 7]. In addition, preservation of the arachnoidal layer reduces the risk of postoperative complications, such as hydrocephalus, aseptic meningitis, arachnoiditis and pseudomeningocele. Unfortunately, in the paper of Lucchetta et al. [1] is not clear if arachnoidal dissection was undertaken. Interestingly, the postoperative MRI revealed shrinkage of the syrinx along with a small pseudomeningocele, which is clearly enlarged 1 month after surgery. In fact, pseudomeningocele formation is an underestimated surgical complication [9], which may occur also after duroplasty, as reported in the present case. This occurrence may prevent normalization of CSF flow dynamics at the craniovertebral junction with delayed symptoms recurrence in the postoperative period [9, 10].

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase

Stem cell transplantation is not appropriate first-line treatment for attenuated phenotypes of mucopolysaccharidosis type I (MPS I). In three patients with attenuated MPSA I treated by laronidase, Patients 2 and 3 displayed significant cognitive improvement within 2years; Patients 1 and 3 displayed improvement on MRI scans of the brain.

Lymphocytic Hypophysitis: Differential Diagnosis and Effects of High-Dose Pulse Steroids, Followed by Azathioprine, on the Pituitary Mass and Endocrine Abnormalities — Report of a Case and Literature Review

We report on a man with a progressively increasing pituitary mass, as demonstrated by MRI. It produced neurological and ophthalmological symptoms, and, ultimately, hypopituitarism. MRI also showed enlargement of the pituitary stalk and a dural tail phenomenon. An increased titer of antipituitary antibodies (1:16) was detected in the serum. Pituitary biopsy showed autoimmune hypophysitis (AH). Neither methylprednisolone pulse therapy nor a subsequent treatment with azathioprine were successful in recovering pituitary function, or in inducing a significant reduction of the pituitary mass after an initial, transient clinical and neuroradiological improvement. Anterior pituitary function evaluation revealed persistent hypopituitarism. AH is a relatively rare condition, particularly in males, but it represents an emerging entity in the diagnostic management of pituitary masses. This case shows that response to appropriate therapy for hypophysitis may not be very favorable and confirms that diagnostic management of nonsecreting pituitary masses can be a challenge. Clinical, imaging, and laboratory findings are useful for suggesting the diagnosis, but pituitary biopsy may be necessary to confirm it.

Neurological disease: the effects of HIV and antiretroviral therapy and the implications for early antiretroviral therapy initiation

The purpose of this review is to examine the literature regarding HIV-associated neurocognitive disorders, early HIV infection of the central nervous system (CNS), the role of the peripheral immune system in controlling HIV infection and disease within the brain and the potential role that early antiretroviral treatment may play in the preservation of neurocognitive health in patients with more than 500 CD4+ cells/microl. In the post highly active antiretroviral therapy (HAART) era, HIV-associated neurocognitive disorders remain prevalent and even mild-moderate immunosuppression carries a risk for the development of HIV-associated dementia. HIV infection of the CNS occurs early in the illness, and data suggest that a robust peripheral immune system is key to the long-term control of CNS HIV infection. HAART results in clinical, neuropsychological and neuroradiological improvement in patients with HIV-associated neurocognitive disorders, and the prescription of HAART regimens with good cerebrospinal fluid penetration appears to be preferable in this setting. There is little evidence that HAART causes CNS toxicity. The benefits and risks of HAART in the preservation or enhancement of neurocognitive function in well, HIV-infected patients with more than 500 CD4+ cells/microl are unknown. The prescription of HAART in well, HIV-infected patients with high CD4+ cell counts may afford enhanced control of CNS HIV infection as a result of the benefits of HAART upon peripheral immune function. In turn, this may result in superior or preserved neurocognitive performance in comparison to the current practice of commencing HAART when CD4+ cells reach 350 cells/microl or lower. This hypothesis will be tested in an upcoming randomized clinical trial.

Intractable Intracranial Tuberculous Infection Responsive to Thalidomide: Report of Four Cases

Paradoxical enlargement and development of new intracranial tuberculomas and tuberculous brain abscesses on adequate antituberculosis treatment are well recognized and supposedly cytokine mediated. These lesions are often unresponsive to conventional antituberculosis treatment, corticosteroids, and surgery. We therefore assessed the effect of adjunctive thalidomide, a tumor necrosis factor alpha-modulating drug, in intractable intracranial tuberculosis that did not respond to standard medical and surgical therapy. Four consecutive children (three children with bacteriologic proof and one child with clinical evidence of intracranial tuberculosis) were studied. Three patients each had a giant tuberculous abscess, and the fourth had chronic basal arachnoiditis with progressive loss of vision. Three of the four patients had relentless neurologic deterioration, and all showed disease progression on neuroimaging despite full medical and appropriate surgical treatment. Marked clinical and neuroradiologic improvement occurred after thalidomide was added to the antituberculosis treatment regimen of these four patients. Adjunctive thalidomide might have a role in the management of intractable intracranial tuberculosis and needs further investigation in this regard.

Variabilidad en las indicaciones quirúrgicas de las lesiones intradurales postraumáticas

The surgical treatment of focal intradural lesions is still a matter of considerable debate. This is especially important in the decision to evacuate brain contusions. We present the results of a prospective observational study in which the main goal was to analyze intracenter variability in the indication for surgery in focal posttraumatic intradural lesions in a department of Neurosurgery of a University Hospital with a specialized neurotrauma unit. Between May 1 and December 31, 2001, 32 patients with a closed traumatic brain injury and an intradural posttraumatic focal lesion were included. The patients studied were a subgroup included in the European multicenter observational study of the management of intradural lesions conducted under the aegis of the European Brain Injury Consortium (EBIC). Intradural lesions > 25 cc were immediately evacuated. Nine out of thirteen patients with lesions < 25 cc also underwent surgery due to intracranial hypertension or neuroworsening. In all patients in whom lesions were surgically evacuated, the postoperative CT-scan showed neuroradiological improvement of the signs of mass effect or midline shift. In our center, we found no evidence of significant variability in the indications for surgery in intradural lesions of more than 25 cc. However, significant differences were detected among neurosurgeons in the surgical indications for lesions below 25 cc. The small sample analyzed precludes generalization of these conclusions. The definitive results of the EBIC study will provide the neurosurgical community with a better understanding of variability in the management of these lesions.

Variabilidad en las indicaciones quirúrgicas de las lesiones intradurales postraumáticas

IntroductionThe surgical treatment of focal intradural lesions is still a matter of considerable debate. This is especially important in the decisión to evacúate brain contusions. We present the results of a prospective observational study in which the main goal was to analyze intracenter variability in the indication for surgery in focal posttraumatic intradural lesions in a department of Neurosurgery of a University Hospital with a specialized neurotrauma unit. Clinical material and methodsBetween May 1 and December 31, 2001, 32 patients with a closed trau-matic brain injury and an intradural posttraumatic focal lesión were included. The patients studied were a subgroup included in the European multicenter observational study of the management of intradural lesions conducted under the aegis of the European Brain Injury Consortium (EBIC). ResultsIntradural lesions > 25cc were immediately evacuated. Nine out of thirteen patients with lesions < 25cc also underwent surgery due to intracranial hyper-tension or neuroworsening. In all patients in whom lesions were surgically evacuated, the postoperative CT-scan showed neuroradiological improvement of the signs of mass effect or midline shift. ConclusionsIn our center, we found no evidence of significant variability in the indications for surgery in intradural lesions of more than 25 cc. However, significant differences were detected among neurosurgeons in the surgical indications for lesions below 25cc. The small sample analyzed precludes generalization of these conclusions. The deflnitive results of the EBIC study will provide the neurosurgical community with a better understanding of variability in the management of these lesions.

Cerebral Whipple's disease as a cause of reversible dementia

We describe a case of reversible dementia caused by Tropheryma whippelii (TW). Diagnosis was confirmed by a positive polymerase chain reaction for this pathogen both on serum and cerebrospinal fluid. Specific antibiotic therapy resulted in distinct clinical and neuroradiological improvement. Control polymerase chain reaction for T. whippelii on serum and cerebrospinal fluid was negative.

Weber's syndrome due to a possible solitary brainstem toxoplasmosis as a presenting sign of AIDS

We report the case of a young man, with a previous history of parenteral drug abuse, who developed a Weber's syndrome. Brain computed tomographic scan and nuclear magnetic resonance imaging showed a single ring enhancing lesion in the right mesencephalic site. After the demonstration of seropositivity for human immunodeficiency vims, a presumptive diagnosis of cerebral toxoplasmosis in an AIDS patient was made and a specific treatment was started. A partial neuroradiological and clinical improvement were obtained. Opportunistic cerebral lesions, as first manifestation of AIDS, should be always considered in subjects at risk for AIDS who present a brainstem syndrome.

Subdural hygroma: results of treatment by ventriculo-abdominal shunt.

Subdural hygromas, which differ from acute and chronic subdural haematomas in clinical features and pathogenetic mechanism, can occur as isolated lesions or in association with ventricular dilatation and/or subarachnoid cysts which are mistaken for atrophy. On the basis of the postulate that these fluid accumulations might be related to a disturbance in CSF circulation, we treated them by ventriculoperitoneal CSF drainage. This was regarded as indicated only for children with symptoms of retardation and a distended ventricular system. Disappearance of the hygroma or the cortical cysts and ventricular dilatation was demonstrated in 9 of 14 children treated by ventriculo-abdominal shunt and in 4 of 7 less seriously affected untreated children. Clinical improvement came later than neuroradiological improvement, and was incomplete in a number of children. Although there are anamnestic factors with an unfavourable effect on development, the hygromas per se can cause cerebral dysfunction which is associated with their bifrontal localization. The principal symptoms are those of retardation in the development of verbal expression, leg motor function and manipulation.