This work aims to add evidence and provide an update on the classification and diagnosis of monoclonal immunoglobulin deposition disease (MIDD) and primary central nervous system low-grade lymphomas. MIDD is characterized by the deposition of light and heavy chain proteins. Depending on the spatial arrangement of the secreted proteins, light chain-derived amyloidosis (AL) can be distinguished from non-amyloid light chain deposition disease (LCDD). We present a case of an extremely rare tumoral presentation of LCDD (aggregoma) and review the 3 previously published LCDD cases and discuss their presentation with respect to AL.
A 61-year-old woman presented with a 3½-year history of neurologic symptoms due to a progressive white matter lesion of the left subcortical parieto-insular lobe and basal ganglia. 2 former stereotactic biopsies conducted at different hospitals revealed no evidence of malignancy or inflammation; thus, no therapy had been initiated. After performing physiological and functional magnetic resonance imaging (MRI), the tumor was removed under intraoperative monitoring at our department. Histological analysis revealed large amorphous deposits and small islands of lymphoid cells.
LCCD is a very rare and obscure manifestation of primary central nervous system low-grade lymphomas that can be easily misdiagnosed by stereotactic biopsy sampling. If stereotactic biopsy does not reveal a definite result, a “wait-and-see” strategy can delay possible therapy for this disease. The impact of surgical removal, radiotherapy and chemotherapy in LCDD obviously remains controversial because of the low number of relevant cases.
Aggregoma; Light chain deposition disease; Lymphoma; Monoclonal immunoglobulin deposition disease; Neurooncology; Primary central nervous system lymphoma; Stereotaxic surgery
Sjögren’s syndrome can involve the central nervous system; however, spontaneous intracranial hemorrhage has rarely been reported as the initial manifestation.
We report a 39-year-old woman with primary Sjögren’s syndrome presenting with intracranial hemorrhage. The diagnosis of primary Sjögren’s syndrome was based on the presence of ocular dryness, salivary gland secretory and excretory dysfunction confirmed with dynamic tracer emission CT, and positive anti-Sjögren’s syndrome A and anti-Sjögren’s syndrome B antibodies.
Primary Sjögren’s syndrome can present with variable central nervous system signs, which may precede the classic sicca symptoms. Therefore, Sjögren’s syndrome-associated indicators should be investigated in patients without the common risk factors for stroke who present with spontaneous intracranial hemorrhage.
Sjögren’s syndrome; Vasculitis; Intracranial hemorrhage; Internal carotid artery; Moyamoya disease; Anti-Sjögren’s syndrome A antibody; Anti-Sjögren’s syndrome B antibody
Nervous system complications of primary Epstein-Barr virus (EBV) infection in adults are rare, but may occur with encephalitis, meningitis, myelitis, cranial and peripheral neuropathies, or radiculitis.
We describe an immune competent adult with a primary EBV infection complicated by lumbosacral polyradiculitis with pure radicular pain. Prior to the onset of radicular pain the 35-year-old woman had been suffering from infectious mononucleosis misdiagnosed for streptococcal tonsillitis. The diagnosis of primary EBV infection associated polyradiculitis was proven by serology and PCR in serum and CSF. Under initially started empiric therapy with intravenous acyclovir and analgesics the patient completely recovered within a few days.
This case report highlights that EBV should be taken into consideration in the diagnostic work up of radicular pain syndromes, even in immune competent adults. There is no approved causal therapy for EBV infections. In accordance with our case, observations based on a few patients with EBV and nervous system involvement suggest, that acyclovir treatment might be associated a with better course. However, prospective randomized controlled trials addressing the question of the effectiveness of acyclovir in patients with primary EBV infection and neurological complications are lacking.
Primary Epstein-Barr virus (EBV) infection; Infectious mononucleosis; Polyradiculitis
Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established.
We identified a male patient with progressive external ophthalmoplegia who also developed a progressive bradykinesia, rigidity and camptocormia in the third decade. Parkinsonism was partially responsive to dopaminegic replacement. His father and brother had reportedly similar clinical problems. Genetic analysis identified a novel mutation p.K512M in the POLG1 gene.
This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.
Mitochondrial DNA polymerase gamma (POLG1); Parkinsonism; Progressive external ophthalmoplegia; Ataxia; Sensory neuropathy
Posterior reversible encephalopathy syndrome (PRES) is a transient clinical and neuroradiologic syndrome caused by cerebral vasogenic edema. Various reversible neurologic symptoms were shown in patients with PRES. Freezing of gait (FOG) is mainly observed in neurodegenerative diseases.
We report a 43-year-old man, with undergoing hemodialysis therapy for chronic renal failure, had mild elevation of blood pressure. His consciousness level suddenly deteriorated, and brain MRI demonstrated hyperintense lesions in the bilateral basal ganglia on fluid-attenuated inversion recovery images, diffusion-weighted images, and apparent diffusion coefficient maps. After improvement of disturbance of consciousness, he showed FOG accompanied by bradykinesia and postural instability. His FOG spontaneously improved concurrently with alleviation of basal ganglionic lesions on follow-up MRI.
It is suggested that vasogenic edema on bilateral basal ganglia associated with PRES can cause acute transient FOG.
Posterior reversible encephalopathy syndrome; Freezing of gait; Parkinsonism; Vasogenic edema; Hemodialysis
Heat stress results in multiorgan failure and CNS injury. There a few case reports in the literature on the neurological consequences of heat stress.
We describe a patient with heat stress presenting with encephalopathy and bilateral cerebral, cerebellar, and thalamic lesions and intraventricular hemorrhage on MRI.
Heat stress should be in the differential diagnosis of patients presenting with encephalopathy and elevated serum inflammatory markers especially if the history suggests a preceding episode of hyperthermia.
MRI; Heat; Stroke; Stress; Cerebellum; Ischemia
We report a case of childhood onset, generalized dystonia due to slowly progressive bilateral striatal necrosis associated with anti-N-methyl-D-aspartate receptor (NMDAR) antibodies. This clinical phenotype has not been previously associated with NMDA receptor autoimmunity.
An eighteen year old man presented with a history of childhood-onset, progressive generalized dystonia. Clinical examination revealed a pure generalized dystonia with no cognitive or other neurological findings. Magnetic resonance imaging showed bilateral high T2 signal striatal lesions, which were slowly progressive over a period of nine years. New parts of the lesion showed restricted water diffusion suggesting cytotoxic oedema. Positron emission tomography of the brain showed frontal hypermetabolism and cerebellar hypometabolism. Antibodies against the NR1 subunit of the NMDA receptor were detected in the patient’s serum and cerebrospinal fluid. There was no neoplasia or preceding infection or vaccination.
This is the first report of chronic progressive bilateral striatal necrosis associated with anti-NMDAR antibodies. Our findings expand the clinical spectrum of disease associated with anti-NMDAR antibodies and suggest that these should be included in the work-up of dystonia with striatal necrosis.
Dystonia; NMDA; MRI; PET; Encephalitis
The anterior corticospinal tract (CST) has been suggested as one of the ipsilateral motor pathways, which contribute to motor recovery following stroke. In this study, we report on a patient who showed deterioration of pre-existing hemiparesis due to an injury of the ipsilateral anterior CST following a pontine infarct, as evaluated by diffusion tensor tractography (DTT).
A 55-year-old male patient showed quadriparesis after the onset of an infarct in the right pontine basis. He had history of an infarct in the left middle cerebral artery territory 7 years ago. Consequently, he showed right hemiparesis before onset of the right pontine infarct. Following this, his right hemiparesis deteriorated whereas his left hemiparesis newly developed. The DTTs for whole CST of the right hemisphere in the patient and both hemispheres in control subjects descended through the known CST pathway. By contrast, the DTT for the left whole CST of the patient showed a complete injury finding. The DTTs for the anterior CST of control subjects passed through the known pathway of the CST from cerebral cortex to medulla and terminated in the anterior funiculus of the upper cervical cord. However, the DTT for right anterior CST in the patient showed discontinuation below the right pontine infarct.
It appeared that the deterioration of the pre-existing right hemiparesis was ascribed to an injury of the right anterior CST due to the right pontine infarct.
Lateral corticospinal tract; Anterior corticospinal tract; Diffusion tensor imaging; Pontine infarct; Hemiparesis
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) was first described in 2010 by Pittock and colleagues. All reported patients presented with diplopia and gait ataxia and had similar typical MRI findings with punctuate gadolinium enhancement of the pons. Alternative diagnoses were excluded by means of laboratory, radiological and histological tests. All patients were successfully treated with steroids. We present a case in which the steroid therapy was switched to long term immunosuppressive therapy, leading to several severe side-effects, but sustained clinical improvement.
A 63-year-old male presented with sub-acute diplopia and progressive gait ataxia. During admission his neurological condition worsened and he developed multiple cranial nerve deficits, paraparesis and urine retention. MRI-findings were remarkable with punctuate enhancement with gadolinium of the pons. Cerebrospinal fluid only showed elevated protein levels and all other additional investigations were normal. The probable diagnosis of CLIPPERS was made and intravenous corticosteroids were administered. This led to rapid clinical recovery and decreased enhancement on the MRI-scan. Long-term oral immunosuppressive therapy was started. One-and-a-half year later our patient has no recurrence of neurological symptoms, however due to the side effects of the immunosuppressive therapy he was readmitted several times.
CLIPPERS presents with distinctive clinical and MRI-findings and may be diagnosed after excluding other differential diagnoses. Patients are treated with corticosteroids with good clinical results. Since short term glucocorticoid treatment results into relapse of the disease, longer term immunosuppressive therapy appears to be mandatory for sustained improvement, although accompanied by severe side effects.
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids; CLIPPERS; Ataxia; Diplopia
West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy.
We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 years in order to know the clinical evolution of infantile spasms.
We report a child with West syndrome with onset at 8 months of age followed by some clusters of bilateral, arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave occurring at 12 years of age and by co-occurrence of a later generalized tonic-clonic seizure at 14 years and four months, both sensitive to Levetiracetam suggesting a juvenile myoclonic epilepsy.
This unusual evolution, never previously reported, suggests that both electroclinical features mentioned above may share some pathophysiological processes genetically determined which produce a susceptibility to seizure and emphasizes that the transition between different age-related epileptic phenotypes may involve also the West syndrome.
West syndrome; Juvenile myoclonic epilepsy; Epilepsy evolution; Genetic predisposition; Hairy elbows syndrome
Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11–13 region that includes genes encoding the α5 (GABRA5) and β3 - γ3 (GABRB3) receptor subunits. The disease causes intellectual and physical developmental delay, seizures, intellectual disability and behavioral disorders that may be related to abnormal GABA receptor function and morphology. Seizures are often severe and may be refractory to treatment. There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures.
We report the case of an adult individual with IDIC-15 whose complex-partial seizures worsened dramatically after the introduction of pregabalin, with increased seizure frequency, frequent generalization, and appearance of new seizure pattern. Her cognitive function and verbal skills also worsened during treatment with pregabalin. Her seizures and cognitive skills quickly improved after pregabalin was discontinued and treatment with lacosamide started.
As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin.
As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin.This case may help define proper therapeutic strategies for the treatment of IDIC-15 associated seizures.
IDIC-15; GABA receptors; Pregabalin; Seizures; Lacosamide
Malignant myoepithelioma is a relatively rare malignant tumor occurring most frequently in the salivary glands. A few isolated cases have been described in other locations, including soft tissue, bone, lung, bronchus, oral cavity, nasopharynx, larynx, and maxillary sinus. Malignant myoepithelioma, however, is uncommonly involved within the cavernous sinus. To the best of our knowledge, this is the first report of malignant myoepithelioma arising from within the cavernous sinus.
Herein, we report a case of a 48-year-old woman who presented a 1-month history of diplopia and blepharoptosis as well as radiological evidence of a rapidly developing cavernous sinus tumor. The patient underwent a trans-sphenoidal biopsy and a histological diagnosis indicated a malignant myoepithelioma. After diagnosis, the tumor grew rapidly and her clinical condition deteriorated progressively. Therefore, a pterional craniotomy with partial tumor removal was performed. The patient’s clinical state was worsened, and she died two months after the initial operation. Because the malignant myoepithelioma could not be traced to an organ of origin, other than the cavernous sinus, this case was diagnosed as a primary intracranial malignant myoepithelioma.
The purpose of presenting this case report is to raise awareness among clinicians to consider malignant myoepithelioma as a differential diagnosis when a cavernous sinus mass is identified. Furthermore, an ideal management strategy for malignant myoepithelioma is not known and the prognosis seems to be unfavorable; therefore, more cases are needed to enhance our knowledge of the diagnosis, treatment, and prognosis of this rare intracranial lesion.
Myoepithelioma; Cavernous sinus; Treatment; Pathology
POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.
We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.
The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations.
POLG1; MELAS; Red-ragged fibers; Stroke-like
Thrombolysis is strongly recommended for patients with significant neurologic deficits secondary to acute ischemic stroke. Extracranial bleeding is a rare but major complication of thrombolysis.
A 78-year-old woman presented with acute ischemic stroke caused by occlusion of the basilar artery. Clinical recovery was observed after successful recanalization by intravenous thrombolysis and intraarterial thrombectomy. However, the patient complained of sudden abdominal pain following the intervention and a newly developed abdominal wall mass was found. CT scan and selective angiography confirmed active bleeding from the left epigastric artery into the abdominal muscle layer and the bleeding was successfully managed by selective embolization of the bleeding artery.
We report a rare case of abdominal wall hemorrhage after thrombolysis for acute ischemic stroke. The findings indicate that abdominal wall hemorrhage should be considered as a differential diagnosis in the presence of abdominal discomfort after thrombolysis for acute ischemic stroke.
Abdominal wall hemorrhage; Extracranial hemorrhage; Thrombolysis
We report a female patient with familial Creutzfeldt-Jakob disease with V180I mutation (fCJD with V180I), who was serially followed up with magnetic resonance imaging (MRI) and electroencephalogram (EEG) for up to four years.
At 6 months after the onset, diffusion-weighted images (DWI) and fluid-attenuated inversion recovery (FLAIR) of brain MRI revealed an increased signal intensity in the bilateral frontal, temporal, and parietal cerebral cortex with left dominancy except for the occipital lobe. However, her follow-up MRI at four years showed the high-signal regions spreading to the occipital cerebral cortex in DWI and FLAIR images, and bilateral frontal cerebral white matter in FLAIR images. EEG showed a progressive and general slow high-voltage rhythm from 7–8 to 3–5 c/s over four years, without evidence of periodic synchronous discharge. These findings correspond to the symptom progression even after akinetic mutism at 18 months.
We suggest that serial MRI and EEG examinations are useful for early diagnosis of fCJD with V180I and for monitoring disease progression.
Familial Creutzfeldt-Jakob disease; V180I; Magnetic resonance imaging; Electroencephalogram
The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens. AVM can be categorized into three groups: acid maltase deficiency, myopathies characterized by autophagic vacuoles with unique sarcolemmal features, and rimmed vacuolar myopathies (RVM). While the pathogeneses of these conditions are still being elucidated, some drugs (e.g., chloroquine, its analog, hydroxychloroquine, and colchicine) can also cause AVM. Minocycline is a disease-modifying anti-rheumatic drug that may be used in the treatment of rheumatoid arthritis (RA). Here, we describe the first case of minocycline-associated AVM with rimmed vacuole formation.
A 75-year-old woman suffering from RA has been continuously treated with minocycline (200 mg/day) for the past 7 years. During this time, she developed a myopathy that predominantly affected her lower limbs. Histological studies of biopsied muscle revealed scattered atrophic myofibers with rimmed vacuoles that contained pigment granules. Histochemical staining revealed that the pigment comprised both iron and melanin, which is consistent with type II minocycline-induced cutaneous pigmentation. Under electron microscopy, autophagic vacuoles were consistently observed in association with numerous collections of pigment granules.
This is the first report of minocycline-induced pigmentation in skeletal muscle. The strong association between autophagic vacuoles and the accumulation of minocycline-induced pigments suggest that long-term minocycline treatment induced pigment accumulation, leading to elevation of autophagic activity and RVM. It might also be possible that minocycline directly activated autophagy, as the observed pigments are known to form complexes containing minocycline and/or its metabolites. As long-term minocycline treatment is expected to be used more widely in the future, we must draw attention to this adverse effect.
Minocycline; Autophagic vacuole; Rimmed vacuolar myopathy; Minocycline-induced pigmentation; Rheumatoid arthritis
Ischemic stroke by septic embolism occurs primarily in the context of infective endocarditis or in patients with a right-to-left shunt and formation of a secondary cerebral abscess is a rare event. Erosion of pulmonary veins by a pulmonary abscess can lead to transcardiac septic embolism but to our knowledge no case of septic embolic ischemic stroke from a pulmonary abscess with secondary transformation into a brain abscess has been reported to date.
We report the case of a patient with a pulmonary abscess causing a septic embolic cerebral infarction which then transformed into a cerebral abscess. After antibiotic therapy and drainage of the abscess the patient could be rehabilitated and presented an impressive improvement of symptoms.
Septic embolism should be considered as cause of ischemic stroke in patients with pulmonary abscess and can be followed by formation of a secondary cerebral abscess. Early antibiotic treatment and repeated cranial CT-scans for detection of a secondary abscess should be performed.
Kikuchi Fujimoto disease (KFD), or histiocytic necrotising lymphadenitis, is a benign and self-limiting condition characterised by primarily affecting the cervical lymph nodes. Recurrent aseptic meningitis in association with KFD is extremely rare and remains a diagnostic challenge.
We report a 28-year-old man who presented 7 episodes of aseptic meningitis associated with KFD over the course of 7 years. Histopathological findings of enlarged lymph nodes led to the diagnosis of KFD. The patient’s headache and lymphadenopathy spontaneously resolved without any sequelae.
A diagnosis of KFD should be considered when enlarged cervical lymph nodes are observed in patients with recurrent aseptic meningitis. A long-term prognosis remains uncertain, and careful follow-up is preferred.
Recurrent aseptic meningitis; Kikuchi-Fujimoto disease; Histiocytic necrotising lymphadenitis; SLE
Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS demyelination to spinal cord and peripheral nerve degeneration.
We present a patient with clinical progressive AMN and severe lower limb pain. Longitudinal brain magnetic resonance spectroscopy showed a constant slightly elevated myoinositol/total creatine ratio during the five year treatment period, probably reflecting demyelination, microglial activation and gliosis, indicating an inflammatory response. The pain was refractory to conventional therapy but intravenous immunoglobulin (IVIG) treatment was highly efficient.
IVIG may be considered as a last resort for treatment of refractory pain in AMN patients with indications of an inflammatory component.
Adrenomyeloneuropathy; Limb pain; IVIG treatment; Magnetic resonance spectroscopy
This article reports a rare case of active neurosyphilis in a man with mild to moderate dementia and marked hippocampal atrophy, mimicking early onset Alzheimer’s disease. Few cases have so far described bilateral hippocampal atrophy mimicking Alzheimer’s disease in neurosyphilis.
The patient presented here is a 33 year old Bulgarian male, whose clinical features include progressive cognitive decline and behavioral changes over the last 18 months. Neuropsychological examination revealed mild to moderate dementia (Mini Mental State Examination score was 16/30) with impaired memory and attention, and executive dysfunction. Pyramidal, and extrapyramidal signs, as well as dysarthria and impairment in coordination, were documented. Brain magnetic resonance imaging showed cortical atrophy with noticeable bilateral hippocampal atrophy. The diagnosis of active neurosyphilis was based on positive results of the Venereal Disease Research Laboratory test/Treponema pallidum hemagglutination reactions in blood and cerebrospinal fluid samples. In addition, cerebrospinal fluid analysis showed pleocytosis and elevated protein levels. High-dose intravenous penicillin therapy was administered. At 6 month follow up, improvements were noted clinically, on neuropsychological examinations, and in cerebrospinal fluid samples.
This case underlines the importance of early diagnosis of neurosyphilis. The results suggest that neurosyphilis should be considered when magnetic resonance imaging results indicate mesiotemporal abnormalities and hippocampal atrophy. Neurosyphilis is a treatable condition which requires early aggressive antibiotic therapy.
Neurosyphilis; Dementia; Hippocampal atrophy; Alzheimer’s disease; Magnetic resonance imaging (MRI)
Levetiracetam (LEV) is an antiepileptic drug with a favorable tolerability and safety profile with little or no effect on liver function.
Here, we reported an epileptic pediatric patient who developed a significant elevation in serum alkaline phosphatase level (ALP) during LEV monotherapy. Moreover, the serum ALP level was surprisingly decreased to normal after LEV discontinuation. The Naranjo Adverse Drug Reaction Probability Scale score was 6, indicating firstly LEV was a probable cause for the increased serum ALP.
Cautious usage and concerns of the LEV-associated potential ALP elevation should be considered when levetiracetam is prescribed to epilepsy patients, especially pediatric patients.
Levetiracetam; Serum alkaline phosphatase; Hepatotoxicity; Antiepileptic drugs; Epilepsy
Human cytomegalovirus (CMV) is an ubiquitous pathogen capable of modulating the host immune system. Immune dysfunction is common during CMV infection and includes autoimmune phenomena. Here we focus on a case of primary CMV infection associated with encephalopathy in a patient with a rudimentary spleen. We discuss diagnostic challenges and immunological aspects as well as the hypothesis that CMV may break tolerance and induce potentially encephalitogenic autoantibodies.
A 33-year-old woman was admitted with features of encephalitis, rapidly progressing into a catatonic state. The patient tested negative for presence of herpes simplex virus DNA in cerebrospinal fluid (CSF), and had elevated liver enzymes and hepatomegaly at computed tomography scan (CT) examination. CT scan and magnetic resonance imaging (MRI) showed only a rudimentary spleen. Initially, serum was negative for anti-CMV IgM, but borderline for anti-CMV IgG by enzyme-linked immunosorbent assay. However, a more sensitive assay resulted in a positive specific IgM Western blot profile and low IgG avidity, suggesting primary CMV infection. Further, CMV DNA was retrospectively detected in a CSF sample collected at admission. We also detected antineuronal autoantibodies, which stained GAD-positive neurons in the hippocampus. The patient was treated by a combination of prednisone, intravenous immunoglobulins (IVIg) and antivirals, which resulted in a dramatic amelioration of the patient’s neurological status. One year after admission the patient exhibited a nearly complete recovery with mild deficits in attention and memory.
A possible reason for the critical course of CMV infection could be the lack of a functional spleen in this patient, a condition previously associated with severe CMV infection. Prompt treatment with antiviral drugs, steroids and IVIg was most likely important for the positive outcome in this case and should be considered for similar cases of severe primary CMV infection associated with immunopathological phenomena.
Human cytomegalovirus; Encephalitis; Antineuronal autoantibodies
CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease.
Patient 1 experienced progressive gait disability and patient 2 relapsing optic neuritis and sensory-motor deficit in the leg. Both patients responded to corticotherapy and patient 2 was also responsive to glatiramer acetate. No oligoclonal bands were found in the CSF, and MRI showed myelitis and lesions with gadolinium enhancement in brain (patient 1) or incomplete CADASIL phenotype (patient 2).
In rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.
CADASIL; Multiple sclerosis; Leukoencephalopathy; Notch3; Cerebral vasculitis
The diagnosis of transient ischemic attack (TIA) based on clinical history and objective findings, even including multiparametric MRI, can be misleading. We report two patients who presented with TIA-like deficits with isolated perfusion lesions in corresponding areas but were finally diagnosed as transient neurological symptoms associated with dural arteriovenous fistula (dAVF).
Two patients presented with transient focal neurological symptoms lasting less than one hour. An isolated perfusion deficit with no diffusion change in the clinically relevant area was shown on brain MRI, indicating transient ischemia as the most plausible cause of neurological symptoms. However, cerebral angiography let to diagnosis of dAVF in both cases. Intracerebral hemorrhage occurred after the initial diagnosis of TIA in one patient, and the small area of perfusion abnormality accompanied by the enlarged cortical vein in the other case helped to identify the dAVF through the further investigation. The pattern of perfusion-weighted imaging in both cases revealed increase of mean transit time and relative cerebral blood volume denoting the venous congestion in a clinically corresponding area.
Reported cases are uncommon clinical presentation of a dAVF, which can be misdiagnosed as TIA on clinical grounds. In rare cases, the isolated perfusion deficits could be attributable to venous congestion, despite the similar pattern of clinical presentation, such as with TIA.
Transient ischemic attack; Perfusion-weighted imaging; Dural arteriovenous fistula; Magnetic resonance imaging; Transient ischemic attack mimics; Intracerebral hemorrhage
The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes. The diagnosing of the SCAs is often difficult due to the phenotypic overlap among several of the subtypes and with other neurodegenerative disorders e.g. Huntington’s disease.
We report a family in which the proband had rapidly progressing cognitive decline and only subtle cerebellar symptoms from age 42. Sequencing of the TATA-box binding protein gene revealed a modest elongation of the CAG/CAA-repeat of only two repeats above the non-pathogenic threshold of 41, confirming a diagnosis of SCA17. Normally, repeats within this range show reduced penetrance and result in a milder disease course with slower progression and later age of onset. Thus, this case presented with an unusual phenotype.
The current case highlights the diagnostic challenge of neurodegenerative disorders and the need for a thorough clinical and paraclinical examination of patients presenting with rapid cognitive decline to make a precise diagnosis on which further genetic counseling and initiation of treatment modalities can be based.
Spinocerebellar ataxia type 17; Dementia; Short CAG repeat expansion