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Cobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis, and pulmonary arterial hypertension. CblC deficiency typically presents in the pediatric population but can also present in adulthood. Diagnosis in adults can be challenging due to the rarity of this condition and its myriad clinical presentations. CblC deficiency is treatable, so early diagnosis is important in preventing permanent neurologic damage. Although CblC deficiency results from a defect in vitamin B12 metabolism, B12 levels remain normal. Diagnosis depends on testing metabolites altered by vitamin B12 dysfunction such as methylmalonic acid (MMA) and homocysteine. We presented a case of a 20-year-old woman who presented with chronic progressive lower extremity weakness and sensory changes. She was eventually diagnosed with subacute combined degeneration because of CblC deficiency and effectively treated. This case highlights the importance of considering inborn errors of metabolism in adult patients and including testing of metabolites such as MMA and homocysteine when suspecting vitamin B12 dysfunction.

Nonhepatic hyperammonemia syndrome is a rare cause of neurologic dysfunction and cerebral edema and has most commonly been reported in posttransplant patients. Only recently has opportunistic infection withUreaplasmaspecies andMycoplasma hominisbeen found to be key to the pathogenesis. We describe the cases of 3 immunosuppressed patients who developed hyperammonemia syndrome with new-onset refractory status epilepticus and diffuse cerebral edema. PCR was positive forM hominisin 1 patient andUreaplasma parvumin the other 2. Despite early diagnostic suspicion and aggressive management with empirical antibiotics, seizure control, hypertonic saline, and ammonia elimination, none of our patients survived this life-threatening infection. Nonhepatic hyperammonemia and new-onset seizures can be presenting features of disseminatedUreaplasmaspecies andM hominisinfections in posttransplant patients. Immunosuppression in the absence of organ transplantation is likely sufficient to trigger this entity, as was the case in our third patient. When suspected, empiric combination antibiotics should be used due to high likelihood of resistance. The diagnostic test of choice is PCR. Patients with hyperammonemia syndrome associated with these infections typically have a poor prognosis. Early recognition and aggressive multimodal interventions may be key to ameliorating the high mortality and severe neurologic sequelae from this entity.

We present the case of a 26-year-old woman with recurrent episodes of severe pain, weakness, and atrophy in her bilateral upper extremities during pregnancy and puerperium. She reported 2 similar episodes at ages 5 and 10 years, after which she fully recovered. On examination, we observed significant atrophy in her bilateral upper extremity muscles with decreased strength. Needle electromyography (EMG) revealed neurogenic damage in her bilateral upper limbs. The patient's clinical manifestations and auxiliary examination suggested a brachial plexopathy. Metabolic and immune factors that may occur during pregnancy and puerperium were evaluated. We also screened for paraneoplastic, neoplastic, and genetic factors. Finally, a hereditary form of disease was considered. This case emphasizes the importance of early diagnosis and avoidance of triggers.

In this report, we describe the case of a 37-year-old man presenting with intermittent episodes of dizziness and choreiform movements. MRI of the head showed an acute infarction in the left cerebellar hemisphere and multiple chronic infarctions in the cerebellum and pons. Vessel imaging also showed dynamic stenoses in the posterior circulation. This case provides a framework for evaluating young patients with intermittent dizziness and recurrent strokes and highlights the need to combine anatomical angiographies or hemodynamic studies with head rotational behavior.

Bilateral optic disc swelling is a common finding but rarely associated with multiple cranial neuropathies. In this case, an 18-year-old man presented with subacute sequential hearing loss followed by subacute sequential visual loss. Clinical examination revealed bilateral optic disc swelling. Lumbar puncture revealed a normal opening pressure of 15 cmH2o. This case discusses a rare but important cause of bilateral optic disc swelling in the context of hearing loss, disequilibrium, and a normal CSF opening pressure. An overview of the literature is provided, and treatment options are discussed to guide further management of similar cases.

Neurocognitive decline associated with HIV infection remains prevalent even in the antiretroviral therapy (ART) era, albeit usually in less severe forms. The differential diagnosis of cognitive impairment in this population is quite broad, including infectious causes such as CNS opportunistic infections, causes directly related to HIV such as HIV-associated neurocognitive disorders, and causes entirely unrelated to HIV infection such as primary dementia syndromes. In this case report, a 47-year-old man with HIV on ART with an undetectable plasma viral load presented with rapidly progressive dementia to a clinic in Zambia. He had been functioning independently and fully employed before symptom onset but had to stop working within 2 months of symptom onset because of the severity and rapidity of his cognitive decline. Initial workup led to an empiric diagnosis and initiation of an empiric treatment regimen, which was ultimately ineffective. This prompted re-evaluation, additional workup, and, ultimately, discovering the correct diagnosis. This case highlights the stepwise approach to developing a diagnosis in a resource-limited setting where there exists a high burden of HIV infection, including the necessity of empiric diagnoses of treatment plans when investigations are limited and the importance of reconsidering these diagnoses in the face of additional clinical information. In addition, it highlights both infectious and noninfectious causes of cognitive decline in people with HIV.

We report a case of a 60-year-old patient with a 10-year history of Parkinson disease who developed a dyskinetic-dystonic gait pattern highly affecting his personal and social life. After multiple unsuccessful attempts to improve the clinical condition by adapting the pharmacologic treatment, the patient underwent gait rehabilitation based on the use of visual cueing. This approach induced a relevant improvement in the dyskinetic-dystonic gait. Our case contributes to the phenotypic description of motor fluctuations in advanced Parkinson disease and suggests an additional therapeutic option to mitigate their impact on motor performances.

Visual hallucinations are frequently encountered in clinical practice. It is critical for neurologists, particularly those in training, to develop a systematic approach for evaluating patients presenting with such unique and often perplexing symptoms. In this study, we present the case of a 48-year-old woman who developed vivid visual hallucinations after receiving nivolumab for melanoma. We discuss the broad differential diagnosis for visual hallucinations and how history and examination can guide one's evaluation.

A 14-year-old girl presented with subacute onset headache, fever, and vomiting and was managed initially with antibiotics for suspected bacterial meningitis. Her symptoms further evolved over the next few weeks with systemic signs and symptoms favoring chronic meningitis with raised intracranial pressure. After the etiologic workup was unrevealing, she was started on empirical antituberculous therapy. After a period of partial improvement, symptoms recurred with a new-onset focal seizure. Her imaging findings evolved from features suggestive of focal leptomeningitis to multifocal heterogeneous enhancing cortical and subcortical lesions with hemorrhagic foci, leading to brain biopsy that confirmed diagnosis. Our case highlights the utility of diagnostic biopsy in patients with “chronic meningitis” in uncertain cases rather than confining the approach to the law of parsimony. The decision to initiate empirical therapy in chronic meningitis should be considered on a case-by-case basis and take into account factors, such as clinical examination findings, immune status, recent exposures, and potential risks of treatment. Atypical MRI features should lower the threshold for meningocortical biopsy when indicated.

Biotin thiamine responsive basal ganglia disease (BTRBGD) is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood–brain barrier. It is considered a treatable condition if vitamin supplementation, most commonly with thiamine and biotin, is initiated early. BTRBGD can present as an infantile form, classical childhood form, or adult Wernicke-like encephalopathy. The infantile form is often the most severe and portends a worse prognosis with high mortality despite vitamin supplementation. We present a two-month-old who presented with irritability, opisthotonos, and abnormal eye movements who was found to have compound heterozygous variants in the SLC19A3 gene inherited in trans, including one known pathogenic intronic variant and a novel variant presumed to be pathogenic. She was therefore diagnosed with infantile BTRBGD. In this report, we discuss the differential for infantile BTRBGD, the clinical and radiologic features of BTRBGD, and describe a rapid, positive response to early vitamin supplementation in an infant with a likely pathogenic novel variant in SLC19A3.

We report a case of a 23-year-old man who presented with progressive asymmetric weakness and numbness in his distal extremities over 4 months, with initial symptoms starting days after a coronavirus 2019 (COVID-19) vaccine booster. Initial neurologic examination was notable for distal weakness of both upper and lower extremities that was more pronounced on the left, complete areflexia, and decreased distal sensation to pinprick and vibration without loss of proprioception. Nerve conduction studies demonstrated a generalized, non–length-dependent, sensorimotor, demyelinating polyneuropathy, with conduction block seen in multiple compound muscle action potentials. Sensory nerve action potentials were normal in absolute terms but had asymmetric amplitudes.Based on the patient's nerve conduction studies, he was diagnosed with a specific immune-mediated neuromuscular disorder. He was started on intravenous immunoglobulin, but within days of the first infusions experienced a rare and potentially life-threatening complication. He received appropriate treatment and was started on alternative immunotherapy, after which his symptoms improved.Our case exemplifies the features of a specific subtype of a more common immune-mediated neuromuscular diagnosis with unique elements of history, examination, and nerve conduction studies that required interpretation in the clinical context. We also discuss a rare side effect of a commonly used immunotherapy and its risk factors and comment on the likelihood that this diagnosis may be related to a preceding COVID-19 vaccine booster.

Essential to responsible practice and progress in neurology and neuroscience research is robust engagement with associated ethical dimensions and challenges. By virtue of the privileged relationship between personhood and the brain, and the importance of properties of the nervous system to what for most makes life worth living, conditions that affect neurologic function introduce a growing host of novel ethical and philosophical issues. Rather than serving a reactionary role, it is important for neurologists to anticipate such issues and develop familiarity with ethical analysis to inform quality medical practice and to safeguard neuroscience research. The field of neuroethics is an emerging career path devoted to identifying and evaluating such issues with the aim of informing optimal clinical practice and responsible neuroscience research. This article describes the past, present, and future of neuroethics, informed by an interview with one of the field's key founders and luminaries, Dr. James Bernat, with specific focus on training and career opportunities for neurologists in training.

Foster Kennedy syndrome refers to a finding of optic atrophy in one eye from direct compression of the optic nerve by a mass lesion and contralateral papilledema in the non-atrophic optic nerve caused by increased intracranial pressure. When the fundoscopy finding is not due to a direct compressive mass, the term pseudo-Foster Kennedy syndrome is used; this can be caused by any process or processes that result in optic atrophy in one eye and optic disc edema in the other. Identifying Foster Kennedy syndrome in a patient calls for expedient neuroimaging looking for an intracranial mass lesion. In this paper, we present a case of a patient presenting with vision loss and Foster Kennedy syndrome who was found to have a large trigeminal cystic schwannoma. While several other accompanying symptoms were not evident from the patient complaint, careful history and physical examination revealed additional localizing clues: unilateral sensory changes in the face and pterygoid and masseter atrophy, unilateral cranial nerve VI palsy, and episodes of intense déjà vu sensation which were presumed to represent temporal lobe onset focal aware seizures. Trigeminal schwannomas are a rare entity, and they are even more rarely cystic. This case highlights an unusual scenario where slow expansion of the tumor ultimately resulted in vision loss and presentation of the patient to medical attention. To our knowledge, this is the first report of a trigeminal schwannoma causing Foster Kennedy syndrome.

Peripheral neuropathies, especially those with atypical features, remain a diagnostic challenge. In this case, a 60-year-old patient presented with acute-onset weakness starting in the right hand then sequentially involving the left leg, left hand, and right leg over 5 days. The asymmetric weakness was accompanied by persistent fever and elevated inflammatory markers. Subsequent development of rashes combined with careful review of the history led us to the final diagnosis and targeted treatment. This case highlights clinical pattern recognition with the help of electrophysiologic studies in peripheral neuropathies, which provide shortcuts to narrow the differential diagnosis. We also illustrate the important pitfalls from history taking to ancillary testing in diagnosing the rare but treatable cause of peripheral neuropathy (eFigure 1,links.lww.com/WNL/C541).

A 77-year-old-man presents with chorea, parasomnias, dysarthria and dysphagia, and cognitive issues. A broad workup reveals positive anti-IgLON5 antibody. This case report represents a textbook example of anti-IgLON5 syndrome.

Baylisascaris procyonis, or raccoon round worm, is a rare cause of eosinophilic meningoencephalitis with historically poor clinical outcomes. Symptoms of neural larval migrans begin approximately 2-4 weeks after ingestion with fatigue, nausea, fever, and lethargy, then rapidly progress to weakness, incoordination, ataxia, seizures, altered mental status, and finally coma. Only 31 other cases of central nervous system Baylisascaris neural larval migrans have been reported, with over 25% being lethal. Of the remaining cases, all but three were neurologically devastated largely due to delays in diagnosis and treatment. We present a case of an infant Baylisascaris neural larval migrans manifested as right hemiparesis, ataxia, and cortical blindness. Eosinophilia was missed at an outside hospital due to misidentification of eosinophils as monocytes on automated cell differential. Repeated testing of serum and CSF revealed marked eosinophilia consistent with eosinophilic meningoencephalitis, and serum antibody testing through the Centers of Disease Control confirmed Baylisascaris infection. Notably, this child had a remarkably positive outcome with near complete recovery of neurologic function after treatment with albendazole and steroids. While eosinophilic meningoencephalitis is rare, accounting for less than 3% of all lumbar punctures with pleocytosis, this case illustrates: A) the importance of early disease recognition and treatment to improve patient outcomes and B) the fact that automated cell differentials may misidentify eosinophils as monocytes.

We present an image of diffuse intrinsic pontine glioma (DIPG) showing its relationship to white matter structures based on reconstructed tractography (figure). An 8-year-old girl presented with diplopia, right abducens nerve palsy, and mild ataxia. Reconstruction showed at the level of the pontine decussation a right-sided disruption of the pontocerebellar fibers anterior to the descending corticospinal fibers involving the pontine nuclei region. Understanding the white matter tract anatomy of DIPG in relation to surrounding structures critical for function by this method may have the potential to assist in minimizing functional deficit risk during biopsy, but requires future validation.

Rasmussen encephalitis is a devastating progressive inflammatory disorder that leads to debilitating neurologic deficits and intractable epilepsy. Surgical treatment of the dominant hemisphere has been attempted with hesitation, given the lack of effective diagnostic tools to determine the potential functional deficits from disconnection procedures.

“Cogwheels and Crystals” is a reflection on how difficult it was to see a patient with Parkinson disease in the office as the daughter of a man with the same diagnosis. The immediate challenge was maintaining composure and professionalism, fighting the urge to stay blissfully unaware. The poem explores my feelings as I set out to perform a thorough interview similar to any other: discomfort with confronting potential future realities, reminders of the ways my father's disease limited his involvement in my childhood, and guilt for perhaps not caring for him enough as I spend my days caring for others with similar struggles.he is here today, fidgeting, can't sit still,my crystal ball.i look though i don't want to.my white coat feels stiff, rigid on my body andthe cogwheels begin cranking restlessly in my head.he is here today, hand trembling as he adjusts his glasses.i do not wish to fast-forward to The End of my father,but my crystal ball is here today.i am tasked with asking him to tell me about the things i want to hide from.i close my eyes for a moment before i begin,and i am a small child again doing homework on the kitchen table.the smell of indian spices cooking is quite strong to my sister and me, but my dad is none the wiser; something we called a quirk.and then i am in high school proud in my gown, tassel hanging.we are late because my dad is struggling to tie his shoes. he can barely get the spoon from the bowl to his mouth at the reception.and then i am back herei don't want to see how this ends.my crystal ball is here today.it feels like morbid curiosity; i ask him details,about how his medications are failing, about how he cannot move his body to eat, bathe, wear his clothes. his voice is a whisper.i wonder how long before my dad loses his voice.how long until he gets to this part?i counsel and send my crystal ball away, heart heavy,and immediately call my dad.i stick my hand in my coat pocket, it sinksand i sink into a chairi don't tell him that i've seen the end.is he talking a little softer than usual?i ask him cordial questions, about work and weatherand hang up before he realizes i am cryingabout cogwheels and crystals.

This poem describes the author's experience performing her first brain death examination as a neurology resident. The author hopes this work may prompt readers to reflect on similar experiences. Physicians frequently deal with heavy diagnoses and grave situations. Introspection may inspire empathy and kindness to improve how one provides care for patients and interacts with families.

PCDH19-related epilepsy is a developmental and epileptic encephalopathy typically presenting with epilepsy and varying degrees of intellectual disability. Seizures typically present in clusters of focal or generalized seizures, sometimes in the setting of fever. We present the case of a 7-month-old girl presenting with new-onset refractory status epilepticus that followed routine vaccine administration and ensuing cytokine storm. She was diagnosed with a pathogenic variant in PCDH19. The patient required 5 antiseizure medications and pentobarbital-induced burst suppression for control of seizures. She was noted to have elevated serum cytokine levels (interleukin [IL]-2, IL-4, IL-10, IL-13, IL-17, IL-1, IL-1β, and IL-8) and CSF cytokine levels (IL-6 and IL-13). Anakinra was initiated and titrated based on serial cytokine levels, with doses ranging from 5 to 20 mg/kg/d resulting in reduction in cytokine levels and seizure reduction. By age 14 months, she was able to be maintained on 3 active antiseizure medications and ketogenic diet for seizure control.

With the rapid aging of populations, neurological disorders have become among the leading causes of disability and mortality worldwide. Most neurological conditions have a prolonged prodromal phase - even if they tend to manifest with an acute syndrome such as stroke - and can lead to a relentless, often deleterious course creating a major burden on patients, caregivers, and society. This unique nature of neurological diseases signifies the strong need for equally effective primary and secondary prevention strategies and focus on brain health before brain diseases ensue. The field of preventive neurology applies both universal and selective primary prevention strategies to promote brain health both at the public and personal levels. The preventive neurology approach aims to identify and target high risk individuals and protect them from reaching a critical point where overt clinical symptoms are present and disease progression is irreversible. Universal and selective prevention training, along with dovetailed clinical and public health research, are three essential pillars of preventive neurology. The burgeoning field of preventive neurology aims to assess neurological care needs in a society, promote the participation of neurologists in restructuring of the health care policies to promote brain health, and to identify medium and high-risk individuals in order to prevent or delay future neurological events.

A 59-year-old woman with a history of FLT3-ITD mutant acute myeloid leukemia (AML) presented for evaluation of horizontal diplopia, progressive dysarthria, right facial weakness, and somnolence. She was initially diagnosed with AML 15 months prior to the current presentation. Complete remission was attained 9 months from AML diagnosis after induction chemotherapy with daunorubicin, cytarabine, and midostaurin, and consolidation chemotherapy with high-dose cytarabine followed by allogenic stem cell transplantation. The patient relapsed 4 months after transplantation, prompting reduction of immune suppression and initiation of the FLT3 inhibitor gilteritinib. She developed graft vs host disease of the skin, necessitating maintenance tacrolimus and dexamethasone. She again achieved complete remission on gilteritinib. Five months following gilteritinib initiation, she presented to her outpatient oncologist for evaluation of 10 days of intermittent horizontal diplopia associated with left eye pain and a new headache. On examination, she had new left eye esotropia and veered left with ambulation, while the remainder of the neurologic examination was intact. Her medication regimen at this time included gilteritinib, tacrolimus, dexamethasone, and prophylactic acyclovir, trimethoprim-sulfamethoxazole, and fluconazole.

We report a case of a 12-year-old girl who presented with acute-onset diplopia, dizziness, and upbeat nystagmus. On examination, she had right internuclear ophthalmoplegia with right eye hypertropia and exotropia and impaired convergence. In addition, she also had spontaneous primary position symmetric upbeat nystagmus. In this report, we discuss the clinical approach with meticulous neuro-ophthalmologic examination and neuroanatomic localization in pediatric patients with acute-onset diplopia.

A patient with probable Creutzfeldt Jakob disease (CJD) who was previously a high-functioning financial analyst remains fiercely independent despite her family's concerns about her safety. As a trainee with limited experience in leading these difficult conversations, this neurology resident describes her experience reconciling the viewpoints of herself, the patient, and her family. She reflects on the ability to reframe this delicate conversation from one of loss of independence in a patient with a rapidly progressive, neurodegenerative condition to one of safety, security, and the care of her family.

Malformations of cortical development represent an important cause of developmental disability and neurologic morbidity and mortality.1 Advances in genetic methodology, particularly the widespread implementation of next-generation DNA sequencing technology (e.g., multigene panels and whole exome sequencing [WES]), have significantly improved diagnostic yield in neurogenetic disease.2 The current yield for a range of conditions, including brain malformations, epilepsy,3 global developmental delay, and movement disorders, is approximately 50%.

Early signs of Lafora disease can mimic a benign genetic generalized epilepsy of adolescence.

Acute ataxia is a common neurologic presentation in the pediatric population that carries a broad differential diagnosis. The tempo of the presentation, distribution of the ataxia (focal or diffuse), examination findings, and paraclinical testing may be helpful in guiding diagnosis and management. Although Guillain-Barré syndrome (GBS) and its variant, Miller Fisher syndrome (MFS), are well defined, frequently encountered acute autoimmune neuropathies, the GBS/MFS spectrum have at least 12 different phenotypes with distinct neurologic features, 4 of which include ataxia. These lesser-known variants can be diagnosed clinically, in the absence of conclusive laboratory or neuroimaging data, and should always be considered in an acute presentation of ataxia. In this article, we present a previously healthy 8-year-old with acute onset ataxia with associated hyporeflexia that occurred after resolution of a presumed viral infection. We discuss our approach to ataxia, the patient's neurodiagnostic odyssey, and highlight the final diagnosis of acute ataxic neuropathy without ophthalmoplegia—a rare incomplete MFS subtype. Owing to timely recognition of the condition, the patient was treated appropriately and recovered fully.

The coronavirus disease 2019 pandemic has changed the way we engage patient care, with a move toward telemedicine-based health care encounters. Teleneurology is now being rapidly embraced by neurologists in clinics and hospitals nationwide but for many, this paradigm of care is unfamiliar. Exposure to telemedicine in neurology training programs is scarce despite previous calls to expand teleneurology education. Programs that provide a teleneurology curriculum have demonstrated increased proficiency, accuracy, and post-training utilization among their trainees. With the current changes in health care, broad incorporation of teleneurology education in resident and fellow training after this pandemic dissipates will only serve to improve trainee preparedness for independent practice.

ObjectiveMedical students experience difficult conversations with patients during clinical clerkships. This study aimed to characterize barriers to and opportunities for learning in the setting of challenging conversations.MethodsNeurology clerkship medical students were enrolled prospectively in a concurrent nested mixed methods study. Qualitative data were collected using a postclerkship survey and semi-structured focus groups. Students were asked to reflect on challenging conversations they experienced with patients and to identify the top reasons why conversations were challenging. Responses were analyzed using directed content analysis.ResultsA total of 159 medical students were enrolled (MS2: n = 35 [22%]; MS3: n = 97 [61%]; MS4: n = 27 [17%]). Three themes of difficulty were identified in survey and focus group data: (1) tough clinical realities: how the clinical environment makes conversations challenging; (2) communication skill needs: the difficulty of finding the words to say; and (3) navigating emotions: of patients, clinicians, and students themselves. Tough clinical realities were cited by over two-thirds of students in all years (MS2: n = 30 [86%]; MS3: n = 74 [76%]; MS4: n = 23 [85%]). Communication skills needs were cited most frequently by third-year students (MS2: n = 15 [43%]; MS3: n = 55 [57%]; MS4: n = 10 [37%]). Students early in training were more likely to cite difficulty navigating emotions (MS2: n = 28 [80%]; MS3: n = 71 [73%]; MS4: n = 19 [70%]).ConclusionsMedical students frequently observe and participate in challenging conversations with patients. Here, students identified what makes these conversations most difficult. Communication curricula should leverage clinical communication encounters, prepare students for inherent clinical realities, and help students navigate emotions in the health care setting.

A 74-year-old man with no relevant medical history presented with 5 years of slowly progressive bilateral foot drop. He had used ankle foot orthoses for 3 years prior to presentation. There was no report of upper extremity weakness, numbness, paresthesia, myalgias, muscle cramps, or stiffness. He had attained age-appropriate developmental milestones as a child and was athletic, keeping up with his peers. His mother had bilateral foot drop, ankle contractures, and difficulty with ambulation. His brother, 2 daughters, and a son lacked similar symptoms. Neurologic examination showed bilateral distal lower extremity weakness (Medical Research Council grade 0/5 ankle dorsiflexion and eversion and grade 4/5 ankle plantar flexion and inversion), symmetric distal leg and intrinsic foot muscle wasting, absent patellar and Achilles tendon reflexes, and a steppage gait. Tone was reduced at bilateral ankles. Sensory examination including light touch, pinprick, vibration, and proprioception was intact. Mild bilateral pes cavus and hammertoes were noted. The remainder of the neurologic and physical examination was normal.

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Aicardi-Goutières syndrome (AGS) is a rare, single-gene disorder, characterized by neurologic and skin involvement with an increased level of interferon-α (IFN-α) in the CSF. We describe the case of a young patient presenting with recurrent ischemic stroke. Evaluation revealed the presence of chilblains, white matter abnormalities, cerebral atrophy, and raised IFN-α in the CSF. Compound heterozygous variants of TREX1 were detected, confirming a diagnosis of AGS. After excluding other causes, we attributed the stroke to AGS. Tofacitinib, a Janus kinase inhibitor, was administered to our patient in addition to antiplatelet drugs. There was no recurrence of stroke during 3-month follow-up. This is a rare case of recurrent stroke in TREX1-mutated AGS. Small vessel involvement has been previously demonstrated to play a significant role in the pathogenesis of AGS. This microvascular mechanism might explain the occurrence of ischemic stroke in our patient. For young patients with stroke and multiple system involvement, genetic disorders including AGS should be considered.