Background: Mature teratomas of the central nervous system are rare congenital germ cell tumours, accounting for <0.5% of all intracranial neoplasms. Spontaneous rupture with dissemination of fatty material into the ventricles and subarachnoid spaces is uncommon, particularly from the fourth ventricle, and may precipitate aseptic meningitis, complicating diagnosis and management. Case: We report a 10-year-old girl with progressively worsening headaches, recurrent vomiting, and new-onset generalised tonic–clonic seizures. Neurological examination showed mild truncal ataxia without focal motor deficits. Cranial computed tomography (CT) demonstrated a heterogeneous fourth ventricular mass with fat–fluid levels and fat droplets layering the ventricular system and basal cisterns. Intervention: The patient underwent telovelar microsurgical gross total resection (GTR). The procedure was uneventful, and early postoperative contrast-enhanced CT confirmed complete excision with patent cerebrospinal fluid pathways. No adjuvant chemotherapy or radiotherapy was given, as histopathology confirmed a mature teratoma. Outcome: The postoperative course was uncomplicated. At 3- and 6-month follow-up, the child remained neurologically intact and free of headaches, seizures, and other symptoms, with no radiological evidence of residual or recurrent tumour. Long-term follow-up with serial clinical and imaging assessments is planned for at least three years to monitor for recurrence or delayed complications. Conclusion: Telovelar gross total resection alone may achieve excellent outcomes in ruptured fourth ventricular mature teratomas. This case, to our knowledge the first report of spontaneous rupture of such a lesion from a rural African neurosurgical centre, underscores the growing capacity for complex neurosurgical care in resource-limited settings.

Developmental/Epileptic encephalopathy with spike and wave activation in sleep (DEE-SWAS) comprises a spectrum of childhood-onset epilepsies, characterized by near-continuous spike-wave discharges during non-REM sleep which can result in cognitive, behavioral, and motor regression. Negative myoclonic status in the context of DEE-SWAS is extremely rare, and management is difficult as conventional anti-seizure medications (ASM) and immunomodulatory therapies often show limited efficacy. Adrenocorticotropic hormone (ACTH), classically used for infantile spasms, has recently been reported as a potential therapy for refractory DEE-SWAS. We report a 7-year-old girl with prior developmental encephalopathy, who experienced recurrent unprovoked seizures from 5 years of age, followed by progressive ataxia and language regression. Clinical examination revealed facial dysmorphism, truncal and gait ataxia, oral apraxia with atonic head drops. Video EEG revealed background slowing with bilateral centro-parieto-temporal spikes markedly activated in sleep, with clusters of atonic neck and truncal drop seizures suggestive of negative myoclonic status leading to 'pseudo-ataxia'. Despite treatment with multiple ASM, intravenous methylprednisolone and immunoglobulin, there was worsening encephalopathy and anterior opercular syndrome. Given therapeutic refractoriness, ACTH was initiated. The patient showed dramatic improvement: resolution of status, a marked reduction in EEG spike-wave burden, recovery of gait and language to baseline, and restoration of social interaction. This case demonstrates for the first time the potential of ACTH in refractory DEE-SWAS with negative myoclonic status epilepticus, wherein conventional immunomodulation fails. The sustained clinical and electrographic improvement highlights the broader neuro-modulatory mechanisms of ACTH and supports its consideration in treatment algorithms. Larger prospective studies are warranted to compare the efficacy and safety profile of various corticosteroids in DEE.

A 50-year-old man presented with acute-onset numbness and tingling in his extremities, which progressively worsened, leading to severe gait instability and near-inability to walk. Two weeks earlier, he had experienced an upper respiratory tract infection. Neurologic examination revealed bilateral ptosis, truncal and gait ataxia, and impaired sensory function, with preserved motor strength. The differential diagnosis encompassed infectious etiologies as well as immune-related causes, including paraneoplastic syndromes. Nerve conduction studies demonstrated absent sensory nerve action potentials while motor nerve conduction was unremarkable. Repetitive nerve stimulation testing showed no decremental response. CSF analysis was normal. The patient experienced rapid clinical improvement after intravenous immunoglobulin therapy. This case underscores the importance of recognizing atypical subtypes of classical neurologic disorders, which may present challenges even to experienced clinicians.

BackgroundTraditional Indian medicine has been used to treat a variety of illnesses for centuries. However, there are existing concerns surrounding its heavy metal content. Amongst the different systems of traditional Indian medicine, Ayurvedic medicine has been most frequently implicated in heavy metal toxicity, while Siddha medicine has only very rarely been reported in association with lead and mercury poisoning.Case PresentationA 58‐year‐old woman presented twice with severe headache, vomiting, dysphasia, truncal ataxia, and tremors. In the second presentation, she also had a clinical seizure. Both times, brain imaging showed diffuse gyral edema, but blood and cerebrospinal fluid tests were unyielding for any explanatory biochemical or serological causes. Both times, the patient displayed clinical and radiologic improvement during her inpatient stay, without any definitive treatment instituted. Eventually, a history of daily Siddha medicine usage for 3 months prior to presentation, as well as in the intervening period between both admissions, was elicited. Blood tests showed high lead levels beyond the assay’s limit for accurate quantification. Pharmaceutical analysis of her Siddha medicine capsules revealed contents of arsenic, mercury, and lead at levels that were several thousand times the safe limits. She was treated with oral dimercaptosuccinic acid with significant improvement in symptoms.ConclusionWe presented an unusual case of generalized cerebral edema caused by multiple metal toxicity from Siddha medicine use. Our case illustrates that Siddha medicine can cause a mixed toxidrome with toxicities from multiple metals at once. Our patient’s highly unusual presenting syndrome, including diffuse cerebral edema on brain imaging and triphasic waves on electroencephalogram, will hopefully be informative for physicians faced with similar cases in future.

The patients were a 59-year-old man and a 53-year-old woman, both of whom had preceding fever, followed by impaired consciousness, urinary retention, and unsteadiness while standing. Neurological examination revealed truncal ataxia. Cerebrospinal fluid testing was positive for anti-glial fibrillary acidic protein (GFAP) α antibodies, leading to a diagnosis of GFAP astrocytopathy. Both patients showed improvement following steroid therapy. Somatosensory evoked potential (SEP) in the tibial nerve stimulation demonstrated prolonged N21-P38 conduction times in both cases, suggesting involvement of the posterior columns of the spinal cord. These findings indicate that posterior column dysfunction may contribute to ataxia in GFAP astrocytopathy, and that SEPs may be a useful diagnostic tool for lesion localization in this condition.

Introduction: Ataxia is defined as impaired coordination of voluntary motor activity. Clinical features include broad-based gait, tremor, truncal instability, dysarthria, and nystagmus. In most children, gait disturbance is the predominant symptom; However, cerebellar dysfunction may also manifest as fine motor impairment or tremor. Post-infectious cerebellitis is a rare but important cause of acute ataxia in pediatrics. Case Presentation: We report the case of a 10-year-old male who presented to the pediatric emergency department with a 5-day history of acute gastroenteritis, showing moderate dehydration, oral intolerance, persistent vomiting, asthenia, and adynamia . Twelve days before admission, he had a respiratory infection with fever, treated with cefotaxime for 7 days. Neurological examination revealed dysarthria, horizontal nystagmus, mildly decreased tone, dysdiadochokinesia, dysmetria, truncal and lateropulsion gait ataxia, impaired tandem gait, and intention tremor. Pediatric neurology evaluation confirmed the diagnosis of post-infectious cerebellitis , with a pancerebellar syndrome. Management and Outcome: Systemic corticosteroid therapy was initiated, leading to clinical improvement and remission of neurological symptoms. Conclusion: Post infectious cerebellitis should be considered in pediatric patients presenting with acute ataxia and a recent infectious history. Early recognition and appropriate management are crucial to ensure favorable outcomes and avoid unnecessary interventions.

Abstract Paraneoplastic syndromes (PNS) are effects of cancer associated with pathogenic immune-mediated antibodies expressed by tumor cells. We present a case of a 74-year-old male with Merkel cell carcinoma on lenvatinib plus pembrolizumab who presented with gait instability and frequent falls. MRI brain and total spine unremarkable. CSF revealed elevated nucleated cells (13), protein (61 mg/dL), and myelin basic protein (6). Serum neurofilament light chains (NfL) were markedly elevated at 141 pg/mL. After treatment with five days of high dose IVMP followed by two days of IVIG for presumed ICI-induced cerebellitis, the patient’s truncal ataxia resolved. One month later, while tapering oral prednisone, symptoms recurred with severe orthostatic hypotension, prompting an additional dose of IVIG. Due to limited improvement, rituximab (375 mg/m2) was administered, leading to the resolution of symptoms. Paraneoplastic evaluation showed significantly elevated anti-Hu antibodies in the CSF (titers >1:1024) and serum (titers 1:30720) resulting in a diagnosis of anti-Hu associated paraneoplastic cerebellar degeneration (PCD) and dysautonomia. A severe sensorimotor axonal polyneuropathy with a proximal to distal gradient of involvement was identified on EMG. Despite aggressive immunosuppression and physical therapy, symptoms returned with progressive dysarthria, dysphagia, and pronounced functional deterioration. Repeat MRI brain/spine stable. NfL (26 pg/mL) and anti-Hu antibodies (titers 1:15360) in the serum had improved. Although reduced, inflammatory markers persisted in the CSF. In the context of clinical instability and ongoing inflammation, three subsequent doses of rituximab were administered, without response. A recent PET scan showed cancer remission. He started cyclophosphamide (750 mg/m2) and aggressive rehabilitation with the Curren Foundation. This case is rare and illustrates a prolonged recovery in a patient with anti-Hu PNS and Merkel cell carcinoma. We shed light on the importance of suspecting PNS to avoid misdiagnosis. Our case opens discussion regarding the perceived risk of PNS in patients being treated with ICI.

Central nervous system fungal infections, though rare, may lead to various movement disorders either due to direct fungal invasion or as adverse effects of antifungal drugs. This systematic review aimed to consolidate all published cases and characterize the clinical patterns, mechanisms, and outcomes. A systematic review was conducted in line with PRISMA 2020 guidelines and registered with PROSPERO (CRD420251088348). Published case reports, series, and cohorts describing movement disorders in CNS fungal infections were identified from PubMed, EMBASE, Scopus, and Google Scholar. Forty-five studies with 50 cases were included. Movement disorders directly attributed to fungal infection (n = 22; 44%) occurred predominantly in males (86.4%) with a mean age of 48 years. The most common pathogens were Cryptococcus neoformans (68.2%) and Coccidioides (13.6%). Chorea (45.5%), parkinsonism (27.3%), and tremor (13.6%) were frequent. Basal ganglia involvement was seen in 77.3% of patients. Antifungal drugs used included amphotericin B (77.3%), fluconazole (50%), and flucytosine (54.5%). Outcomes included full recovery (18.2%), partial improvement (36.4%), persistent symptoms (22.7%), and death (22.7%). Drug-induced movement disorders (n = 11; 22%) were linked mainly to amphotericin B (81.8%), with tremor (45.5%), myoclonus (18.2%), and dystonia (18.2%). Mortality was 45.5%. Ataxia with cerebellar involvement (n = 17; 34%) presented as gait (58.8%), truncal (29.4%), or limb ataxia (17.6%), with cerebellar abscesses (52.9%) and leptomeningeal enhancement (23.5%) on imaging. Recovery occurred in 64.7%, while 17.6% died. CNS fungal infections can lead to diverse variety of movement disorders. Early recognition of clinical patterns and neurotoxic drug effects is essential for optimal management.

Efficacy of FcRn antagonist efgartigimod in the treatment of Miller-Fisher/Guillain-Barré overlap syndrome: Two case reports.

Joubert syndrome (JS) is a rare, autosomal recessive ciliopathy characterized by neurological abnormalities and, less commonly, renal, retinal, and hepatic involvement. We report a 13-year-old male with developmental delay and abdominal pain. He was diagnosed with bilateral medullary nephrocalcinosis. Detailed examination revealed truncal ataxia and bilateral retinitis pigmentosa. MRI of the brain showed the characteristic molar tooth sign, and genetic testing identified a novel homozygous c.1304G>A (p.Arg435Gln) variant in exon 6 of the INPP5E gene. This report expands the known phenotypic spectrum of INPP5E -related JS and emphasizes the importance of recognizing syndromic associations in patients with unusual renal findings.

Arnold chiari Malformation Type-1 is a congenital structural neurological disorders characterized by the downward herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal.Common symptoms include occipital headache,dizziness,limb Numbness and sensory disturbances. Notably, patients often experience postural instability and significant impairments in ADLs. Neurological examination revealed truncal ataxia and a wide based gait, while MRI confirmed persistent cerebellar tonsillar descent.

BackgroundPatients with acute vertigo and dizziness often suffer from gait ataxia and postural imbalance. However, detailed and quantitative investigations of gait and stance are largely missing during the acute stage of symptoms.MethodsThis study explores whether assessing objective gait and stance parameters can help differentiate between peripheral and central causes of isolated acute vertigo and dizziness. Patients underwent a standardized protocol within the EMVERT study at the emergency department of LMU University Hospital during the acute stage (on average at 16 h after symptom onset), which included the Timed Up and Go test (TUG), Functional Gait Assessment (FGA), Gait and Truncal Ataxia Index (GTI) and mobile posturography. Patients were categorized into three groups: Acute vestibular strokes (n = 56), acute unilateral vestibulopathy (AUVP, n = 52) and episodic vestibular disorders (n = 92). Outcomes were analyzed using logistic regression models and ROC curves adjusted for age and sex.ResultsWe found that patients with AUVP exhibited worse TUG, FGA and GTI scores than those with vestibular strokes or episodic vestibular disorders. ROC curves for TUG, FGA and GTI showed a weak diagnostic accuracy (0.57–0.62) for stroke versus AUVP, which only improved (to 0.75–0.82), if corrected for age and gender. Posturographic sway path was lowest for episodic vestibular disorders, but similar for stroke and AUVP.ConclusionClinical gait and stance tests such as TUG, FGA and GTI do not reliably differentiate central from peripheral etiologies of isolated acute vertigo and dizziness in patients with a mild to moderate burden of symptoms.

Kikuchi-Fujimoto disease (KFD) rarely involves the central or peripheral nervous system, including the cerebellum. Herein, we present a case of KFD, describing its notable clinical findings, diagnostic approach, management, and outcome. A 23-year-old woman received a diagnosis of KFD 5 months before being admitted to our hospital. She presented with fever, headache, and painful cervical lymphadenopathy; low-dose prednisolone (15 mg/day) was administered. She complained of explosive occipital headaches that awakened her in the middle of the night for 2 weeks. Vertigo/dizziness with projectile vomiting was also noted, followed by double vision, unsteady gait, and slower response on the day of admission. Neurological examination revealed drowsy consciousness, bilateral abducens palsy, scanning speech, left limb dysmetria, and truncal ataxia with marked neck stiffness. Brain magnetic resonance imaging (MRI) revealed focal swelling of the left cerebellum and leptomeningeal enhancement. Cerebrospinal fluid measurements revealed extremely high opening pressure (60 cm H 2 O) and lymphocyte-predominant pleocytosis. No other autoimmune or microbiological etiology was identified. We used dexamethasone (20 mg/day) and mannitol for symptomatic treatment, followed by a tapered dose of prednisolone. She recovered rapidly and became nearly symptom-free upon discharge. Follow-up brain MRI at 1.5 and 9 months indicated complete resolution of previous cerebellar swelling and leptomeningitis. The self-limiting nature of the patient's disease course and negative findings for other possible etiologies suggested the diagnosis of aseptic meningitis with cerebellitis secondary to KFD. Other possible diagnoses, including lymphoma, seemed unlikely after serial follow-up imaging.

Lateral medullary infarction is rarely associated with Opalski syndrome and autonomic dysfunction. Herein, we present the first case involving a 66-year-old patient with cancer who developed mild dysarthria, left-sided Horner's syndrome and lower limb-dominant ataxic hemiparesis, reduction in right-sided painful thermal sensation, and severe truncal ataxia, followed by orthostatic headache. The Schellong test revealed severe orthostatic hypotension. The patient was diagnosed with Opalski syndrome associated with headache attributed to orthostatic hypotension caused by the cerebral infarction in the caudal part of the lateral medulla oblongata. The patient's headache had poor response to analgesics. However, it resolved with orthostatic hypotension improvement.

Hallucinations are perceptual experiences occurring without external stimuli, presenting in auditory, visual, tactile, olfactory, or gustatory forms. These symptoms are linked to various psychiatric, neurological, and medical conditions, often complicating diagnosis. In this case report, we describe a 67-year-old female with a week-long history of visual hallucinations and cognitive decline. Initial workup, including CT, chest X-ray, CBC/CMP, ECG, and urine drug screen, showed no significant abnormalities except for hyperglycemia and hypomagnesemia. The absence of acute findings, coupled with psychosocial stressors, led to a suspected psychiatric etiology, prompting the emergency department to consult the psychiatric term for primary management. However, a comprehensive, multidisciplinary approach—including neurology and medicine consultations—revealed a much more complex picture. It was discovered later that the patient had a seven-year history of tremors and progressive memory decline, alongside neurological findings such as truncal ataxia, poor coordination, and a wide-based gait during the present hospitalization. Brain MRI later demonstrated cerebellar atrophy and chronic microvascular ischemic changes, leading to a diagnosis of neurocognitive disorder, with a high suspicion for vascular dementia. This case emphasizes the importance of maintaining a broad differential diagnosis when evaluating visual hallucinations, as attributing them prematurely to psychiatric causes can result in delays in appropriate treatment. In cases where the etiology of hallucinations is uncertain, obtaining a detailed history is vital in providing clinicians with the necessary pieces to elucidate the underlying etiology. Recognizing the multiple etiologies of visual hallucinations and remaining meticulous when managing patients with this symptom is essential to prevent diagnostic errors and improve patient outcomes.

Wernicke encephalopathy is a thiamine deficiency condition that has a wide range of somatic causes in addition to alcohol abuse. Most patients do not have the classical clinical triad — oculomotor dysfunction, ataxia and cognitive impairment at the onset of the disease, which makes timely diagnosis difficult. The disease may manifest as dizziness, unsteadiness, double vision, or cognitive impairment. Key clinical manifestations include symmetrical gaze-evoked nystagmus, truncal ataxia, bilateral abducens paresis, internuclear ophthalmoplegia, bilateral vestibular-ocular reflex reduction, and anterograde amnesia. To make a diagnosis, the presence of a condition leading to thiamine deficiency is required. The diagnosis is confirmed by MRI, but even with clinical suspicion of Wernicke encephalopathy, it is necessary to initiate parenteral therapy with thiamine in an adequate dose. With timely treatment, the disease has a good prognosis.

The PTCD3 gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of PTCD3 pathogenic variants by describing an early-onset patient with Leigh-like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34-year-old male and his 33-year-old sister both have horizontal nystagmus, pronounced rough tremor, truncal ataxia, dysmetria, spasticity and hyperreflexia. The basal respiration rate decreased significantly for the male patient and his mother (p < 0.0001) compared to the controls. The whole genome sequencing analysis revealed two heterozygous variants in the PTCD3: c.1182T>A, p.(Tyr394Ter) and c.805C>T, p.(His269Tyr). Tyr394Ter variant ablates the C-terminal half of the protein, including a significant portion of the central fold. In silico modelling for the variant His269Tyr shows that the inclusion of the slightly larger tyrosine sidechain is well tolerated, with no significant change in either the position or the movement of the surrounding area. The third case is a 9-year-old boy, who has a global developmental delay, central hypotonia, hyperreflexia and abnormal MRI. PTCD3 pathogenic variant c.538+4A>G was identified by whole exome sequencing. To test the variant's effect on splicing, an RT-PCR experiment was performed, which revealed skipping of an out-of-frame exon 7.

Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in COQ8A), this article will review ataxias due to PCoQD.

ABSTRACT Background: The classic triad in LEMS is proximal muscle weakness, areflexia, and autonomic dysfunction. We have frequently observed truncal ataxia as the first complaint in LEMS patients. In this study, we aimed to show the presence of ataxia in 10 newly diagnosed LEMS patients in the past 3 years and what factors influence it. Methods: We present the clinical findings, voltage-gated calcium channels antibody positivity, and electrophysiologic findings of newly diagnosed LEMS patients who presented to our tertiary care center during the past 3 years. Results: Of the 10 LEMS patients examined, 60% (6) were males and 40% (4) were females. The first and most dysfunctional symptoms were gait disorder and loss of balance in seven of the patients. These patients had ataxia, a gait disturbance that was disproportionate to the proximal weakness. Although the patients had mild proximal weakness in the lower extremities, they had considerable difficulty walking. Proximal muscle weakness was present in six patients, speech disorders in three patients, dysphagia in three patients, dry mouth in three patients, ptosis in two patients, diplopia in two patients, and nystagmus in one patient. Conclusion: We believe that more caution is needed in patients with truncal ataxia when LEMS is suspected. This is because we have seen that the first complaints in 7 out of 10 LEMS patients were truncal ataxia, loss of balance, and gait disturbance.

Background and purposeAcute vestibular syndrome (AVS) typically manifests as isolated dizziness or vertigo with no apparent neurological impairments. However, distinguishing life-threatening stroke from innocuous peripheral vestibular lesions in the emergency...