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A 42-year-old patient was admitted with slowly progressive gait disturbance over a period of ten years. The patient complained of regurgitation and fatigue since childhood. Clinical examination revealed nasal voice, distal amyotrophic motor deficit with pyramidal signs, mild intellectual disability, increased skin pigmentation, and reduced body weight (BMI: 16.6 kg/m2). Schirmer test revealed bilateral alacrima and barium swallow confirmed achalasia cardia. Cortisol level was undetectable, while adrenocorticotrophic hormone was elevated.

Langerhans cell histiocytosis (LCH) is a rare disease in adults characterized by proliferation of CD1a+/CD207+ and S100 myeloid dendritic cells, forming granulomas.1 An inflammatory exudate is often found with “bean-shaped” nucleated histiocytes. We report a patient with multisystem (liver, lung and brain) LCH in whom neuroimaging abnormalities accumulated and partially regressed prior to definitive treatment.

Immunotherapy represents a rapidly expanding area of cancer treatment. Immune checkpoint inhibitors (ICIs), monoclonal antibodies including those targeting cytotoxic T-lymphocyte associated protein 4 or the programmed cell death receptor-1 (PD-1) axis, function by removing inhibitory signals on T-cell activation 1. While promoting T-cell mediated tumor lysis, ICI’s alter the immune system’s regulatory checkpoints which can lead to a host of immune-related adverse events (irAEs) 2, 3. Here, we describe a patient treated with nivolumab (Opdivo, Bristol-Myers Squibb, Princeton, New Jersey) for non-small-cell lung carcinoma (NSCLC) over two years who developed overlapping n-methyl-D-aspartate receptor (NMDA-R) and glial fibrillary acidic protein (GFAP) antibody associated autoimmune encephalitis (AE)4. His hospital course was further complicated by dysautonomia responsive to high-dose steroids.

Immune checkpoints are molecules on the surface of leucocytes which modulate the amplitude of immune responses. Monoclonal antibodies blocking these molecules are known as immune checkpoints inhibitors (ICIs) and have been shown to unleash anti- tumour immunity and mediate durable cancer regressions. ICIs include ipilimumab which blocks the cytotoxic T-lymphocyte antigen-4 (CTLA-4), nivolumab and pembrolizumab which are both against the programmed cell death protein 1 (PD-1)1. The clinical use of these ICIs has led to significantly improved survival in patients with a variety of solid malignancies including melanoma.

Venoarterial extracorporeal membrane oxygenation (VA-ECMO) is increasingly used for cardiorespiratory support in medically refractory cases. The high rate of neurologic complications, specifically cerebrovascular disorders such as acute ischemic stroke, in VA-ECMO patients frequently prompts the acquisition of neuroimaging studies such as computed tomography with angiography and perfusion imaging (CTA and CTP). Clinicians must be familiar with the ECMO-related artifacts when interpreting such studies. Here we describe a case of asymmetric contrast opacification in a VA-ECMO patient with axillary artery cannulation.

A 64-year-old female with sickle cell (hemoglobin SC) disease and prior embolic strokes was admitted for vaso-occlusive pain crisis and developed sudden onset coma. Hyperacute brain MRI showed only small areas of mismatch between diffusion weighted imaging (DWI) and T2 fluid attenuated inversion recovery (T2 FLAIR) sequences that were insufficient to explain her profoundly altered level of consciousness. Repeat MRI 24 hours later showed innumerable foci of restricted diffusion and petechial microhemorrhage, confirming a diagnosis of cerebral fat embolism due to sickle cell crisis.

A 61-year-old man presented with a 15 years history of progressive bilateral vision loss. He reported neither gastrointestinal symptoms nor epilepsy. Brain CT and MRI showed bilateral occipital and cerebellar calcifications, and diffuse posterior white matter abnormalities (figure 1). EEG demonstrated no epileptiform abnormalities. Duodenal biopsy results confirmed celiac disease (CD) diagnosis. White matter abnormalities decreased substantially after 8 months of gluten-free diet, and vision loss progression stopped (figure 2). CD must be suspected in case of isolated neuro-visual disturbances with posterior cerebral calcifications, considering that gluten-free diet can halt the deterioration. (1, 2) Late onset is not rare considering that in adults, CD is characterized by non-bowel involvement and extraintestinal symptoms.

A 65-year-old man was referred to a local memory clinic with memory complaints but clinical assessment found no abnormalities. When he presented two years later to our clinic social disinhibition, reduced empathy, poor judgment and hoarding had become obvious. He showed no insight. He had ischemic heart disease and was on preventive treatment. His mother died aged 97 suffering from dementia. Neurological examination was normal. During neuropsychological examination he exhibited verbal and behavioral disinhibition, inattention, emotional blunting and unconcern. He had prominent difficulties in abstraction, set shifting and sequencing with significant impact on memory tests (table1). A clinical diagnosis of behavioral variant FTD (bvFTD) was made. MRI (figure A) showed right more than left-sided temporal atrophy, bilateral frontal and milder parietal atrophy. Fluorodeoxyglucose (FDG)-PET (figure B) demonstrated fronto-temporal hypometabolism. Metabolism in the posterior cingulate was normal. He was homozygous for the APOE ε4 allele and negative for the C9orf72 expansion and mutations in MAPT, GRN, PSEN1, and APP. [18F]-Florbetapir PET (figure C) revealed increased tracer binding in all cortical regions corresponding to a centiloid value of 74%.

Bilateral optic neuropathy is uncommon in adults with a prevalence varying from 19% -50% of all optic neuropathies [1]. The most common etiology is Neuromyelitis Optica (NMO) or Devic’s disease. Other less frequent etiologies include myelin-oligodendrocyte-glycoprotein (MOG) antibody, syphilis, meningioma, post-vaccinal, post-infectious (chicken pox, human herpes virus 6), acute disseminated encephalomyelitis and idiopathic. Sequential optic neuropathy is seen in multiple sclerosis, but bilateral simultaneous optic neuropathy is rare [2]. When optic neuropathy involves posterior nerve segments, long segments and the optic chiasm, NMO should be suspected. If there is involvement of the hypothalamus, basal meninges, other cranial neuropathies, sarcoidosis must be considered [3]. Primary intracranial germinoma is a rare condition and should be included in the differential diagnosis, especially if there are atypical features and inadequate response to standard treatment [4].

A 60-year old previously healthy left-handed man presented to clinic with 6 months of progressive slowness and stiffness on the left side. He described loss of dexterity in the left hand and feeling of “heaviness” in the left leg. On exam, he exhibited mild bradyphrenia and hypophonia, moderate left arm and leg bradykinesia and rigidity, and left leg hesitations and reduced left arm-swing upon walking (video 1). A month prior, he had undergone MRIs of the brain and cervical spine with and without gadolinium that were unremarkable. Initial serum testing including complete blood count, comprehensive metabolic panel, thyroid stimulating hormone, ceruloplasmin, and vitamin B12 levels were all unremarkable. The differential diagnosis at presentation included the spectrum of parkinsonian disorders with Parkinson's Disease being the most likely given his age group and the asymmetric parkinsonism. He was diagnosed with suspected Parkinson's Disease and levodopa therapy was initiated as the he felt his symptoms were functionally-limiting.

The approval of the interleukin (IL)-17A inhibitor secukinumab (Cosentyx; Novartis International, King of Prussia, PA) was a major advance in psoriasis treatment, with most patients experiencing a 75% reduction in severity.1 Known side effects include an increase in minor infections, but no major infectious adverse events and no nervous system involvement,1-4 leading to broad use and an increase in clinical trials targeting the IL-17 pathway. Here, we describe a patient administered with secukinumab who presented with severe neurologic deficits due to multifocal brain lesions. These were found to be disseminated streptococcal infection and resolved after antibiotic treatment.

The added value of magnetoencephalography (MEG) in the presurgical evaluation for drug-resistant epilepsy is well-recognised 1-4. However, MEG remains mostly limited to analysis of interictal epileptic activity 1,5. Seizures are uncommonly captured due to logistical considerations despite mounting evidence of the value of ictal MEG in localising the seizure onset zone 5-7. Here we report the recording and analysis of ictal MEG recordings in two drug-resistant epilepsy presurgical candidates that spent a night sleeping in the MEG.

A 21-year-old British woman experienced recurrent, self-limited episodes of encephalopathy, motor weakness, speech disturbance and seizures lasting hours to days, over a four-year period. On first presentation in 2016, aged 17, lumbar puncture revealed acellular cerebrospinal fluid with raised protein, prompting a diagnosis of viral encephalitis despite negative viral PCR. Non-contrast brain MRI was normal. She was treated with acyclovir and recovered fully after two weeks. Similar self-limited episodes recurred over the years, all with full recovery without treatment. In January 2019, in the context of one further episode, she was diagnosed with temporal lobe epilepsy and started on levetiracetam. In May 2019, she had another episode. Plain brain CT was suspicious for subarachnoid haemorrhage (figure 1A). Subsequent CT arteriography was negative and MR imaging did not confirm a bleed, but revealed diffuse leptomeningeal enhancement of the brain, cranial nerves and spinal cord after gadolinium injection (figure1B). CSF testing was unremarkable, except for persistently raised protein (1.6g/L). Infectious, vasculitic, paraneoplastic and inflammatory/autoimmune causes were excluded. In December 2019, she developed status epilepticus, necessitating intubation and admission to critical care unit. A subarachnoid haemorrhage was diagnosed. Although her generalised seizures improved, she remained dysphasic and continued to have right-sided focal seizures for several weeks. A previously unavailable family history revealed a diagnosis of hereditary transthyretin amyloidosis (hATTR G47R; figure 2) in a paternal uncle and grandmother, who was of Italian heritage, and testing confirmed our patient carried this mutation (her own father had died of an aneurysmal subarachnoid haemorrhage aged 45). On full systems review, her only other symptoms were cyclical vomiting syndrome associated to menstruation, which started in her twenties, and a tendency towards constipation, which in hindsight might relate to an incipient autonomic neuropathy. She also had a mild postural tremor since her early teens. There were no other sensory or motor symptoms suggesting peripheral neuropathy, but recently she developed paresthesia in her hands. She never presented with postural symptoms, arrhythmias or ocular manifestations. Characteristic findings on cardiac magnetic resonance and echocardiogram, Perugini grade 2 cardiac uptake on 99mTc-DPD scintigraphy, and exclusion of a clonal dyscrasia (by serum free light chain assay and serum/urine electrophoresis) fulfilled non-biopsy criteria for cardiac amyloidosis1. Nerve conduction studies were normal. A presumptive diagnosis of hATTR with leptomeningeal disease was made and a trial of Patisiran (Onpattro®, Alnylam Pharmaceuticals, Cambridge, Massachusetts, USA) and Tafamidis (Vyndaqel®, Pfizer, New York, USA) commenced. Two months after discharge the patient remains stable, but with marked language difficulties and low nonverbal cognitive abilities.

A 60 year-old well-travelled botanist with a history of chronic sinusitis and treated stage IV follicular lymphoma presented to an outside facility with two weeks of progressive headache and nausea.

Cranial mononeuropathies are unusual manifestations of preeclampsia. Facial and oculomotor nerves are the most affected. Brain MRI is necessary to exclude alternative diagnoses. There are no specific treatments except the management of preeclampsia. The prognosis is usually good.

A 43-year old woman was admitted for acute unusual headache, vertigo and left upper limb weakness. She had been complaining of asthenia for the past few weeks. Past medical history included uterine cervix cancer treated with conisation and two pregnancies without serious complications. No allergy or recent drug introduction was noted. After ruling out current pregnancy, Magnetic Resonance Imaging (MRI) was immediately performed and showed recent ischemic strokes in multiple territories. Doppler ultrasound imaging showed no carotid or vertebral arteries lesion. Electrocardiogram showed no ST elevation or atrial fibrillation and echocardiography did not reveal embolic lesion or patent foramen ovale. Blood cell count showed thrombocytopenia at 17 x 109/L (confirmed in citrate tube) and hyperleukocytosis at 18 x 109/L without anemia (hemoglobin at 12,9 g/dL). Basic metabolic profile, kidney and liver function tests were normal. Hemolysis signs were present: reticulocytes, total bilirubin, Lactate dehydrogenase (LDH) and haptoglobin levels were at 147 x 109/L, 27,2 μmol/L, 454 U/L and bellow 0.08 g/L respectively. Repeated blood smears showed no schistocytes. A disseminated intravascular coagulation was ruled out (normal APTT and prothrombin time, fibrinogen at 3,6 g/L), as well as autoimmune cytopenia (Coombs test was negative), hyperhomocysteinemia, vitamin deficiencies (B9, B12) and paroxysmal nocturnal hemoglobinuria. Bone marrow examination showed increased megakaryocytes with normal morphology excluding a central origin. Lupus anticoagulant (LA), anticardiolipin (aCL) and anti- β2gp1 antibodies were negative. A thoraco-abdominopelvic scan with contrast showed small renal and splenic infarcts; no suspect tumor was observed.

Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms1. It has an abrupt onset of unilateral shoulder pain followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness2. The etiology of the syndrome is unclear. Immune checkpoint inhibitors (ICPIs) have been known to cause a myriad of neurological adverse effects. We present a patient that developed PTS as an adverse effect from pembrolizumab treatment.

Ocular flutter consists of bursts of high-frequency, low-amplitude, conjugate saccadic oscillations without normal intersaccadic interval and confined to the horizontal plane. Ocular flutter can be present during sleep, eyelid closure, attempted fixation, and volitional eye movements. Cerebellar fastigial nuclei disinhibition and/or inhibition of pontine omnipause cells disturb the excitatory/inhibitory balance of brainstem saccadic burst neurons, ultimately leading to saccadic oscillations including ocular flutter.1 The most common causes of ocular flutter in adults are paraneoplastic and parainfectious. Toxic metabolic etiologies are rare and include medications such as phenytoin and venlafaxine. Cerebellar and brainstem lesions have been reported, but the etiology remains unknown in approximately half of these patients.1,2 We present a case of ocular flutter in the setting of acute doxylamine intoxication. Doxylamine is a first-generation antihistamine widely available over the counter (OTC) as a sedative sleep aid, often combined with antitussives and decongestants.

Practical Implication: Dystonia following a perinatal injury can have a long latency period in decades, sometimes difficult to treat and may not respond to medical therapy, where deep brain stimulation is another treatment option. Background: Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both, and hemidystonia is dystonic posturing involving one side. (1) Our patient had adolescent-onset, persistent, progressive hemidystonia ( Axis 1 ) secondary to contralateral basal ganglia injury at birth (Axis 2 ) according to recent consensus. (1) He presented as an acute hemidystonic attack with rhabdomyolysis (CPK = 6500 IU/L) and involvement of bulbar and respiratory system with no new structural lesion which is a rare presentation of delayed hemidystonia following perinatal injury.

New daily persistent headache (NDPH) is a chronic primary headache disorder with a characteristic temporal profile of sudden onset headache that persists daily from the onset.12 The core diagnostic criteria for NDPH include clearly remembered onset of headache and persistence of daily headaches for >3 months3 Several predisposing factors including infectious illness, stressful life events, and surgical procedures have been described in approximately half the patients; however, the precise pathogenesis is not understood.1,2,4 This report describes NDPH-like presentation triggered by head drop in a patient with acute onset of myasthenia gravis (MG). The daily headaches persisted despite spontaneous remission of MG. Later, the patient developed recurrence of myasthenic symptoms, and the headache remitted after pyridostigmine was started.

A 49-year-old man was admitted in the Psychiatric Unit of our Hospital due to an acute episode of severe agitation and persecutory ideas forcing the wife to bring him to the Emergency Department (ED). His medical history was marked by a couple of similar accesses to the ED with acute agitation in the recent past. In addition, his wife reported in the last 2 years an inclination to retirement and depressive mood and a continuous decline in mood with apathy and inertia and deficits in episodic memory, with increasing forgetfulness despite maintaining good work functioning. Quite surprisingly, she added that the patient had started to follow a strict fruitarian diet with a highly predominant consumption of just apples. He did neither smoke nor drink alcohol. Notwithstanding, oral olanzapine (15 mg / day) was started with improvement of agitation; however, the patient showed a gradual cognitive worsening with disorientation and executive dysfunction.

Strychnine poisoning should be considered in the differential of generalized tetanic-like muscle contractions with normal mental status—a sine qua non condition of this rare intoxication.

A 17 year-old man presented to the emergency department unconscious and developed anterograde amnesia without other deficits in mental status, motor function, or coordination. High-resolution mass spectrometry (but not routine immunoassays) of his urine detected the presence of fentanyl, morphine, and oxycodone. A brain MRI showed symmetric reduced diffusion in the bilateral hippocampi and globi pallidi as well as a focus of reduced diffusion in the left cerebellum (Figure 1). His anterograde amnesia gradually improved over 8 days. This case highlights the MR features of opioid-related amnestic syndrome and suggests a critical role for both brain MRI and mass spectrometry-based toxicology screening.1, 2

Eyelid myoclonia with absences (EMA) or Jeavons Syndrome is an idiopathic generalized epilepsy (IGE) characterized by eyelid myoclonia with or without absences, eye-closure elicited EEG paroxysms (generalized polyspikes or spike-wave-complexes) and photosensitivity1.

Focal cortical dysplasia (FCD) is a congenital developmental anomaly that is one of the leading causes of refractory epilepsy. MRI is an essential examination and T1WI, T2WI, and FLAIR images are commonly used MR sequences for delineating FCD.1 However, these MRI findings are often insufficiently clear. We experienced two FCD cases that were much better visualized by using T1WI with chemical shift selective (CHESS) than with T2WI and FLAIR images. CHESS is the most frequently used fat suppression pulse in clinical practice. We report two cases in which CHESS clearly demonstrated FCD, and compare the cases9 pathology and MRI findings.

Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndrome (PTS), which is characterized by neonatal thrombocytopenia and persistent platelet dysfunction due to 11q terminal deletion including FLI-I gene causing platelet alpha-granule abnormalities.1

We describe an amnestic pattern of cognitive impairment in a patient with brain sagging syndrome (BSS) due to a dural diverticulum and its reversibility after treatment.

Autoimmune and paraneoplastic movement disorders are increasingly recognized as a result of improved methods in detecting antibodies directed against intracellular, membrane, and other antigens.1 High concentrations of anti-glutamic acid decarboxylase 65 (GAD65) antibodies are associated with several neurologic syndromes including stiff-person syndrome, epilepsy, limbic encephalitis, and cerebellar ataxia.2 Anti-GAD65-associated cerebellar ataxia is typically generalized with prominent gait disturbance and eye movement abnormalities.1 Limb ataxia is present in 60-70% of patients.3 Here we present 2 unusual cases of hemiataxia associated with high concentrations of anti-GAD65 antibodies.

Kendo, a type of fencing using bamboo swords, is one of the most popular Japanese martial arts that is practiced by over four million people worldwide.1 Kendo players wear face masks that protect their heads, but only from front and side attacks (figure 1A). Repetitive head trauma in athletes engaged in contact sports has been associated with development of neurodegenerative disorders.2 Herein, we present the case of kendo player with a history of chronic headache, depression, and cognitive dysfunction, who developed occipital epilepsy followed by generalized tonic-clonic seizures, as a result of repetitive head injuries.

Clinically, neuromelioidosis can present with varying clinical features including stroke like syndrome. In the presence of characteristic findings on magnetic resonance imaging, neuromelioidosis should be suspected even in non-endemic regions.

The sinking skin flap syndrome (SSFS), or syndrome of the trephined, is a pathological condition arising from the presence of large bone defects of the skull. Originally described by Grant and Norcross in patients with a skin flap depression following craniectomy [1], SSFS has a multifaceted clinical presentation, including chronic fatigue, headache, dizziness, impaired vigilance, motor deficits, cognitive deficits, epileptic seizures, and visual symptoms [2]. SSFS pathophysiology is related to the atmospheric pressure exerted on the brain through the craniectomy, inducing brain compression, changes in the cerebrospinal fluid (CSF) dynamics, impaired venous return, and decrease in the regional blood flow, alone or in combination [2]. In this report we describe a case of SSFS complicated by paradoxical uncal herniation due to diuretic therapy.

Downbeat nystagmus occurs as a result of an impaired vestibulo-ocular reflex1. From animal experiments, the Purkinje cells of the flocculonodular and parafloccular lobes of the cerebellum (also known as the “vestibular cerebellum”) are known to negatively regulate the upward rotation of the eyes via feed-forward inhibitory neural circuitry to the vertical vestibulo-ocular reflex [Supplemental figure 1,links.lww.com/CPJ/A199) 2. Although various eye movement abnormalities have been described in congenital and acquired cerebellar disorders, there have been few reports of pure downbeat nystagmus in cerebellitis. Here we report a quite impressive pure downbeat nystagmus in an adolescent female with acute cerebellitis. The electro-oculography of the patient provided compelling evidence that the downbeat nystagmus is indeed the result of feed-forward inhibition to the vestibulo-ocular reflex. Our case may add new insights into the current literature on cerebellar control of eye movement.

Uncommon phenotypes of autosomal dominant Alzheimer disease with unusual MRI findings may be challenging for the clinician to recognize, and thus, it is important to be aware of the potential variability of its presentation.

Trigeminal neuralgia (TN) typically occurs in patients in their late 50s, and criteria for the diagnosis include recurrent unilateral brief electric shock-like pain that is abrupt in onset and termination.1 Pain is usually restricted to second and third divisions and triggered by innocuous sensory stimuli.1 Depending on etiology, TN is categorized as classical when related to compression of the nerve by an impacting blood vessel; secondary, due to major neurologic disease, especially multiple sclerosis and tumors; or idiopathic if diagnostic investigations fail to show any cause.1-2

Recurrence of pulmonary sarcoidosis after transplantation of the lung is known to occur and has not been shown to lead to negative outcomes. However, recurrence in a new primary organ is incredibly rare and not an established pattern of clinical presentation. Neurosarcoidosis can present in a variety of ways, one of which is development of acute encephalopathy and diffuse leptomeningeal enhancement on MRI imaging. In the case we present, the MRI findings, the improvement of symptoms and imaging abnormalities with steroid treatment support a diagnosis of probable neurosarcoidosis. Since a minority of patients who undergo lung transplantation have sarcoidosis, it is possible that subsequent development of neurosarcoidosis may be under recognized.

A 64-year-old male presented with a 6-month history of headache, progressive hearing loss, vertigo, nausea/vomiting, diplopia, and gait instability. Past medical history was significant for hypertension. He was treated with several courses of antibiotics (doxycycline and ceftriaxone) for recurrent sinusitis. Neurological examination was notable for horizontal nystagmus, left facial weakness, bilateral sensorineural hearing loss, hyperreflexia in bilateral upper and lower extremities, and gait ataxia. Extensive serum laboratory workup for infectious and inflammatory disorders was non-revealing, except for a slightly elevated IgG4 level of 87.5 mg/dL (normal range: 3.9 to 86.4 mg/dL). CT examination of chest, abdomen, and pelvis was unremarkable. Cerebrospinal fluid (CSF) analysis revealed the following: protein 112 mg/dl, glucose 66 mg/dl, and white blood cell 41/µl with a lymphocytic predominance. CSF cytology and comprehensive infectious workup including meta-genomic next-generation sequencing was negative. Brain MRI with gadolinium contrast showed diffuse pachymeningeal thickening with enhancement, an enhancing mass in the choroid plexus of the posterior left lateral ventricle and focally enlarged choroid plexus within the fourth ventricle extending through the bilateral foramen of Luschka into the cerebellopontine cisterns (Figure 1). A right frontal dural biopsy showed prominent fibrosis and inflammation with CD3 positive T lymphocytes, CD20 positive B lymphocytes, and CD138 positive plasma cells (Figure 2). Strong IgG4 staining was observed with >100 IgG4 staining cells in one high power microscopic field and an IgG4/IgG staining ratio of >40% (Figure 2). A diagnosis of IgG4-related central nervous system (CNS) disorder involving predominantly the pachymeninges and choroid plexus was made. Treatment of intravenous methylprednisolone, followed by oral prednisone 60 mg and rituximab was initiated, which led to clinical and radiographic improvement at 2 months. At 14 months follow-up, he was asymptomatic with a normal neurological examination, and repeat brain MRI revealed significant improvement of pachymeningeal and choroidal thickening and enhancement (Figure 1).

Spinal CSF-venous fistulas (CVF) were described in 2014 and are now recognized as an important etiology of spontaneous intracranial hypotension (SIH) 1-3. Surgical ligation is highly effective for treating CVFs4. Given the relatively recent discovery of this entity, long-term follow up on treated cases has not been available, however, surgery has generally been considered definitive treatment. We report four cases of SIH in which CVFs have recurred or developed de novo at a different spinal level following complete surgical ligation of the primary lesion. In all cases, the new CVF was not present on any pre-surgical imaging.

We report a case of a 35-year-old male who presented with progressive difficulty in walking with frequent tripping, falling after buckling of knees, difficulty in climbing stairs and swaying while walking for the past 6 months. History was significant for features of subnormal intelligence since childhood and poor scholastic performance. The patient also exhibited behavioral disturbances in the form of aggressive behavior, anger outbursts, excessive talking, and talking to self. The patient was born of a consanguineous marriage. On physical examination, he had tall stature and large ears with no clinical evidence of hypogonadism. No evidence of hypodontia was noted. Neurologic examination revealed cerebellar signs such as ataxia, dysmetria and intention tremors. Pyramidal signs were prominent in lower limbs. Cognitive impairment was also noted.

A 70-year-old woman with symmetric parkinsonism and vertical gaze paresis had an elevated serum manganese level at 60.1 ng/mL (reference value, 4.7–18.3 ng/mL) because of daily over-the-counter supplement intake (over 500% of recommended dietary allowance). Brain MRI revealed T1 hyperintensities in the bilateral globus pallidi and subthalamic nuclei (figure). Serum level normalized with partial clinical improvement after stopping the supplement intake, but the imaging remained unchanged a year later. Liver and kidney failure, occupational exposure, ephedrine usage, parenteral nutrition, and manganese transporter defects may cause similar imaging findings attributable to hypermanganesemia,1,2 but these causes were ruled out.

Treatment of the underlying spinal CSF leak in the early stages of SS may be beneficial in preventing progressive SS.

Thymidine kinase 2 (TK2) deficiency is an extremely rare disease with a variable onset age and symptoms.1, 2 Proximal muscle weakness, respiratory failure, facial weakness, and ptosis are the main symptoms. Deoxycytidine (dC) and deoxythymidine (dT) supplements might be a potential treatment after a timely diagnosis.3 Here, we report a patient with adult-onset ptosis and proximal muscle weakness who was finally diagnosed as having TK2-related myopathy.

Wernekinck commissure syndrome should be considered in the cases of acute bilateral ataxia.

The syndrome of headache and neurologic deficits with CSF lymphocytosis (HaNDL) is a self-limited, benign entity, characterized by one or more episodes of severe headache, transient neurologic deficits and lymphocytic pleocytosis in CSF [1]. Functional imaging studies have shown changes in blood flow and brain activity whose temporal and spatial characteristics are similar to those of CSD, mechanism similar to that proposed for migraine with aura [2,3,4]. Recently, was described the clinical utility of a prominent vein named index vein, found on SWI during migraine aura that drains the cortical area responsible for patient´s symptoms [5,6]. Our paper reports a patient with HaNDL and index vein, adding further evidence for spreading depression-like mechanism, similar to that proposed for migraine.