Introduction: Flow diverters significantly alter the inflow dynamics of an aneurysm, leading to both qualitative and quantitative changes in the intra-aneurysmal hemodynamic environment. Case presentation: A 65-year-old woman with a giant left internal carotid artery aneurysm causing visual symptoms underwent treatment with coiling, surpass evolve flow diverter placement, and balloon angioplasty. Despite being on dual antiplatelet therapy, she developed in-stent thrombosis on postoperative day 4, leading to neurological symptoms. Intra-arterial thrombolysis with eptifibatide and tenecteplase achieved near total recanalization and initial clinical improvement. However, she subsequently developed a massive subarachnoid hemorrhage and was declared brain dead the next day. Conclusion: Delayed rupture of an aneurysm following surpass evolve flow diverter embolization is a rare complication associated with high morbidity and mortality. In our case, in-stent thrombosis occurred on postoperative day 4 and subsequently progressed to aneurysmal rupture, despite the presence of coils within the aneurysm sac. Rupture on the fourth day after Surpass Evolve flow diverter placement—despite initial coil embolization—along with aneurysmal thrombosis, partial recanalization, thrombus extension into the parent vessel, and subsequent treatment with intra-arterial eptifibatide and tenecteplase, highlights the profound hemodynamic instability in giant aneurysms that can contribute to post-procedural rupture.
Introduction:Deep brain stimulation (DBS) withdrawal syndrome is a rare but potentially fatal complication in Parkinson's disease (PD), manifesting as akinetic crisis with severe rigidity, fever, autonomic instability, altered mental status, and elevated creatinine kinase (CK) levels. The syndrome is strongly associated with older age, long duration of the disease (>15 years), and the duration of DBS therapy (>5 years), with most reported cases having at least two of these risk factors. However, all available evidence comes from a limited number of case reports. Case Presentations:We report two cases of DBS withdrawal syndrome, including a patient without any of the currently acknowledged risk factors. This patient, in their late 50s with young-onset PD, was treated with bilateral subthalamic nucleus DBS with a good response, although requiring high stimulation amplitude (4.1 V bilaterally). The first patient developed an akinetic crisis after battery depletion at a PD duration of 11 years and a DBS duration of 4 years. Implantable pulse generator (IPG) replacement was performed 14 days later, resulting in permanent disability and, eventually, death. The second patient, in their mid-60s with long-standing PD and DBS therapy for 14 years, presented with a severe akinetic crisis and markedly elevated CK. IPG replacement within 2 days led to full recovery. Conclusion:DBS withdrawal syndrome can occur without the typical risk profile, and high stimulation amplitude may represent an additional risk factor. Early recognition and immediate DBS therapy restoration are critical to prevent severe, potentially fatal outcomes.
Introduction:Anterior ischemic optic neuropathy (AION) is characterized by an acute, painless decrease in visual acuity due to restricted blood flow to the optic nerve. It is categorized into two types: arteritic AION and non-arteritic AION, which is more prevalent and is also associated with the use of sildenafil. Case Presentation:The patient was a 64-year-old male who presented with sudden, painless, blurred vision in both eyes, progressing to near blindness with minimal light perception. The patient had taken sildenafil the night before symptom onset. A thorough workup, including history-taking, laboratory tests, and imaging, revealed no alternative etiology for the vision loss other than sildenafil use. Nevertheless, he presented atypical features, such as optic nerve enhancement in brain contrast-enhanced magnetic resonance imaging and pleocytosis in cerebrospinal fluid, which are uncommon in sildenafil-associated AION cases. Conclusion:This case contributes to the growing literature on sildenafil-associated AION, underscoring the importance of raising awareness about this potential side effect. These findings highlight the importance of appropriate management and evaluation of patients with sudden visual loss. The improvement in symptoms with corticosteroid therapy in the acute phase suggests that some patients may benefit from early intervention.
Introduction:Seronegative myasthenia gravis is an under-recognized cause of acute neuromuscular respiratory failure, and its convergence with infection and targeted oncologic therapy, specifically anaplastic lymphoma kinase inhibition, is poorly characterized, underscoring the importance of vigilance in oncologic patients presenting with respiratory failure. Case Presentation:A 51-year-old man with anaplastic lymphoma kinase-positive non-small-cell lung cancer on long-term alectinib presented with fever, cough, and progressive generalized weakness. He tested positive for influenza A and rapidly developed respiratory failure requiring intubation. Neurological examination demonstrated ptosis, oculobulbar involvement, and proximal weakness. Repetitive nerve stimulation showed a decremental response, while assays for acetylcholine receptor, anti-muscle-specific kinase, and anti-lipoprotein receptor-related protein 4 antibodies were negative. A diagnosis of seronegative myasthenia gravis was established. The patient received intravenous immunoglobulin, plasma exchange, pyridostigmine, corticosteroids, and azathioprine with gradual clinical improvement. Conclusion:Early recognition of myasthenia gravis in this population is critical to initiate appropriate immunotherapy and supportive management. This case illustrates the difficulty of distinguishing underlying disease and treatment-related effects from new-onset neurological syndromes. It highlights the importance of neurological considerations in cases of progressive respiratory difficulty and posits a putative link between chronic immunosuppression and subsequent susceptibility to autoimmune insult, as well as the need for more aggressive treatment in the setting of immunosuppression.
Objectives:The aim of the study was to report a unique case of severe sensorimotor polyneuropathy due to acute nutritional axonal neuropathy (ANAN) associated with thiamine and other vitamin deficiencies in the setting of semaglutide-related malnutrition, emphasizing early recognition and intervention to prevent permanent neurologic injury. Methods:A 65-year-old woman with type 2 diabetes and obesity presented with profound weakness, cranial nerve deficits, dysphagia, and a 120-pound weight loss after months of semaglutide therapy with persistent nausea and vomiting. Neurologic examination was performed, and cerebrospinal fluid analysis and serum vitamin levels were obtained. Electromyography demonstrated absent sensory responses and mild motor slowing, consistent with severe sensory-predominant polyneuropathy. Serum levels of thiamine, folate, and vitamin B12 were below normal, and supplementation was administered. Results:Within 5 days of thiamine, folate, and vitamin B12 supplementation, the patient showed improvement in cognition and bulbar and limb strength. Oral intake improved over 1 week, and partial functional recovery was achieved. Discussion:This case of ANAN highlights a severe yet potentially reversible neurologic complication of nutritional deficiencies occurring in the setting of GLP-1 receptor agonist-associated gastrointestinal intolerance and malnutrition. Recognizing and addressing nutrient deficiencies in patients with sensorimotor and/or cognitive deficits after persistent gastrointestinal symptoms can improve deficits and prevent long-term or permanent neurologic injury. Practical Implications:Clinicians should maintain a high suspicion for thiamine, folate, vitamin B12, and other nutritional deficiencies in patients on GLP-1 receptor agonists presenting with neuropathy, unexplained weakness, cranial nerve deficits, and/or confusion, as prompt supplementation may mitigate neurologic injury.
: Introduction:Neonatal Fc receptor (FcRn) antagonists can improve autoimmune diseases such as myasthenia gravis by rapidly and selectively reducing serum IgG levels, and they hold potential for broader applications in other autoimmune disorders. Case Report:We report a 32-year-old female admitted with psychiatric and behavioral abnormalities, who tested positive for anti-NMDA receptor antibodies indicative of autoimmune encephalitis. Despite first-line therapy with corticosteroids and intravenous immunoglobulin (IVIG),her cognitive dysfunction progressively worsened, ultimately rendering her unable to communicate.Following four administrations of efgartigimod, the patient exhibited rapid and marked clinical improvement. Conclusion:Highlighting the potential of FcRn antagonists as an additional therapeutic option in clinical practice.
Introduction:Carotid web is a rare focal variant of intimal fibromuscular dysplasia characterized by a thin, shelf-like projection from the posterior wall of the carotid bulb into the arterial lumen. This abnormality can disturb blood flow and promote thrombus formation, increasing the risk of transient ischemic attacks (TIAs) and ischemic strokes. Case Presentation:A 55-year-old male, known case of hypertension, presented with sudden-onset dysarthria and left-sided weakness. Initial imaging revealed no acute infarction, and an underlying cause remained unclear. Despite receiving dual antiplatelet therapy and statin, he experienced a recurrent TIA within a week. Digital subtraction angiography revealed a focal shelf-like intraluminal projection in the right internal carotid artery, consistent with a carotid web. Carotid artery stenting (CAS) was performed successfully without any immediate complications. The patient was then commenced on clopidogrel for 3 months and lifelong aspirin. At the 1-month and 3-month follow-ups, he remained symptom-free and had no recurrence. Conclusion:This case highlights carotid web as a potential but underrecognized cause of recurrent ischemic events, illustrating both the diagnostic challenge of distinguishing it from atherosclerotic plaque with shelf-like configuration and the value of revascularization therapy. Early recognition and timely management by either CAS or carotid endarterectomy can prevent recurrent neurological deficits. Additional studies and case reports are needed to improve understanding of carotid web and to guide the development of evidence-based management strategies.
Introduction:In Japan, efgartigimod is approved for treating generalized myasthenia gravis in patients who are anti-acetylcholine receptor antibody-positive, anti-muscle-specific kinase antibody-positive, or seronegative. Efgartigimod efficacy has been reported in seropositive patients with myasthenic crisis; however, evidence in seronegative patients with myasthenic crisis remains limited. We report 2 patients with seronegative generalized myasthenia gravis presenting with myasthenic crisis as the initial manifestation, successfully treated with efgartigimod. Case Presentation:Case 1 involved an 83-year-old man admitted with acute dyspnea requiring mechanical ventilation for respiratory failure initially attributed to acute exacerbation of heart failure with pleural effusion. Due to poor respiratory recovery, he was referred to neurology on hospital day 14. Clinical features including ventilatory impairment and fatigable limb weakness, together with electrophysiological findings, supported myasthenia gravis diagnosis. Following oral immunosuppressants and intravenous efgartigimod, he was weaned from mechanical ventilation on hospital day 42. Case 2 involved a 75-year-old man with progressive dyspnea and signs of right heart failure requiring mechanical ventilation for respiratory failure. He was referred to neurology on hospital day 2. Electrophysiological testing under sedation suggested myasthenia gravis. After methylprednisolone pulse therapy, subcutaneous efgartigimod was initiated, achieving ventilator liberation on hospital day 40. Conclusion:Efgartigimod was effective in treating myasthenic crisis requiring mechanical ventilation in seronegative generalized myasthenia gravis, regardless of autoantibody status. These cases suggest efgartigimod may serve as an alternative or adjunctive therapeutic option for severe myasthenia gravis exacerbations.
Introduction: Cryptococcus neoformans is an opportunistic pathogenic fungus that primarily infects individuals with compromised immune systems. Cryptococcosis caused by this fungus commonly affects the central nervous system and the lungs. This report describes a rare case of a patient who was negative for human immunodeficiency virus (HIV) and developed rapidly progressive multiple ischemic lesions secondary to infection with C. neoformans, initially presenting with meningoencephalitis and cerebral infarction. Case Presentation: A 62-year-old male patient with a history of hypertension was admitted to the hospital because of altered mental status, behavioral changes, dizziness, and urinary retention. Laboratory tests revealed an HIV-negative result, leukocytosis, elevated inflammatory markers, and hyperglycemia. Magnetic resonance imaging of the head showed multiple scattered abnormal signals within the cranial cavity. Diffusion-weighted imaging, T2-weighted imaging, and fluid-attenuated inversion recovery sequences demonstrated high signal intensity, whereas T1-weighted imaging and the apparent diffusion coefficient sequence showed low signal intensity. These findings suggested multiple cerebral infarctions. The patient underwent lumbar puncture, which revealed elevated protein levels in the cerebrospinal fluid, decreased glucose and chloride levels, and a positive result for Cryptococcus capsular antigen in the cerebrospinal fluid. Cryptococcus was also detected by India ink staining of the cerebrospinal fluid. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry identified the isolate as C. neoformans. Based on these findings, the patient was diagnosed with cryptococcal meningoencephalitis caused by the Cryptococcus neoformans, complicated by cerebral infarction. Despite receiving anti-infective treatments, anticoagulant, and glucocorticoid intervention, the patient’s condition continued to deteriorate rapidly. The patient developed progressively worsening cerebral edema and pneumonia, accompanied by suspected subarachnoid hemorrhage, suspected venous sinus thrombosis, and subcutaneous/muscular edema of the abdominal wall. These findings suggested the presence of multiple ischemic lesions. After 16 days of treatment, the patient’s family decided to discontinue medical care, and the patient was discharged voluntarily. Conclusion: In HIV-negative patients, C. neoformans infection may lead to rapidly progressive multiple ischemic lesions, initially presenting with meningoencephalitis and multiple cerebral infarctions. The disease progresses rapidly and carries an extremely poor prognosis. Early recognition, prompt antifungal and antithrombotic therapy, and further investigation of optimal glucocorticoid administration are critical for diagnosis and management.
Introduction:We present a case of Charcot-Marie-Tooth disease type 1A (CMT1A) complicated by symptoms concerning for superimposed carpal tunnel syndrome (CTS). Diagnostic interpretation was challenging due to overlapping electrodiagnostic and ultrasound findings typical of CMT1A. Case Presentation:A 54-year-old woman with genetically confirmed CMT1A reported bilateral intermittent burning, numbness, and tingling in digits 1-3, worse at night and with hand use. Physical exam revealed positive Tinel's and Phalen's signs bilaterally with preserved motor strength and no thenar atrophy. Electrodiagnostic studies showed diffuse demyelinating polyneuropathy, consistent with CMT1A, with slowed conduction velocities in all nerves tested and prolonged sensory peak latencies in both median and ulnar nerves. Neuromuscular ultrasound revealed diffuse nerve enlargement consistent with hereditary neuropathy. However, focal enlargement of the median nerves at the carpal tunnel - 13 mm2 on the right and 12 mm2 on the left - yielded elevated wrist-to-forearm ratios of 1.44 and 1.75, respectively, suggestive of superimposed CTS. Ultrasound-guided corticosteroid injection served both diagnostic and therapeutic purposes, bridging the patient to appropriate definitive management with carpal tunnel release and ultimately an excellent clinical outcome. Conclusion:CTS and CMT1A share overlapping clinical and diagnostic features which complicates the recognition of a superimposed entrapment neuropathy. In patients with hereditary neuropathies, new focal symptoms should prompt consideration of superimposed compressive or entrapment neuropathies. In this case, the multimodal approach which entailed electrodiagnostics, ultrasound, and a therapeutic response to corticosteroid injection enabled accurate identification and effective treatment.
Introduction: Familial hemiplegic migraine (FHM) is a rare and complex inherited subtype of migraine with aura, characterised by migraine with a reversible motor aura, and may present with a wide spectrum of neurological symptoms, making diagnosis particularly challenging. Case Presentation: We report a case of FHM presenting with prolonged hemiparesis, severe headache, altered consciousness, and fever. This constellation of symptoms initially suggested acute stroke, encephalitis, or status epilepticus. A precise clinical history and targeted genetic testing (CACNA1A, ATP1A2, SCN1A, and PRRT2) proved essential for establishing the diagnosis. Conclusion: This case highlights the wide phenotypic variability of FHM and the risk of misdiagnosis in emergency settings. Early recognition through careful clinical assessment and appropriate genetic testing enabled appropriate management and avoided unnecessary interventions.
Introduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure the diagnosis and mimic neuropathic disorders. Case Presentation: A 27-year-old Bangladeshi man presented with a 2-year history of progressive distal weakness, initially involving the left lower limb and later affecting the contralateral limb and distal upper extremities. Neurological examination revealed asymmetric distal weakness with bilateral foot drop and preserved sensory function. Serum creatine kinase was moderately elevated (892 U/L). Nerve conduction studies showed preserved sensory responses with reduced motor amplitudes, while electromyography demonstrated a distal-predominant myopathic pattern. Magnetic resonance imaging of the spine was unremarkable. Clinical exome sequencing identified a homozygous likely pathogenic variant in the GNE gene NM_005476.7:c.484C>T (p.Arg162Cys), confirming the diagnosis. Conclusion: This case highlights an asymmetric presentation of GNE myopathy mimicking peripheral neuropathy. Recognition of such phenotypic variability and integration of clinical, electrophysiological, and genetic findings are crucial for accurate diagnosis and to avoid misclassification as a neuropathic disorder.
Moyamoya syndrome (MMS) is a rare, progressive cerebrovascular arteriopathy in which stenosis or occlusion of the terminal internal carotid arteries provokes fragile collateral formation. Immune and endocrine contributors are under-recognized in children. We report a 2-year-11-month-old boy with MMS, positive antinuclear antibodies (anti-Ro/SSA and anti-La/SSB), and genetically confirmed adrenocorticotropic hormone (ACTH) deficiency. He presented with progressive lethargy and focal motor seizures. Brain MRI demonstrated an acute right frontal gray-matter ischemic/inflammatory lesion with early Moyamoya changes. He received intensive care management (including antiepileptic therapy, antivirals for H1N1, and IVIG) and subsequently underwent staged indirect cerebral revascularization (pial synangiosis), with gradual neurological recovery. To contextualize the case, we summarize pediatric reports linking MMS to immune–endocrine abnormalities (autoantibodies, thyroid disease, growth-hormone axis disturbances, and rare adrenal-axis defects). These observations support a plausible “two-hit” model in which systemic immune–endocrine stressors accelerate an underlying occlusive arteriopathy through endothelial injury, prothrombotic tendencies, and hemodynamic instability. Early recognition of such systemic clues can expedite diagnosis, inform perioperative endocrine planning, and improve outcomes when combined with timely surgical revascularization.
Introduction: COVID-19 vaccination campaigns have successfully limited the spread of the disease and reduced its severity. Neurological side effects of COVID-19 vaccines are rare. To the best of our knowledge, only a few case reports have shown an association between the COVID-19 vaccine and the development of probable acute fulminant demyelination. Case Presentation: In this case report, we investigated and documented a temporal association suggesting a possible causal link between COVID-19 vaccination and acute fulminant demyelination, supported by a review of the existing literature. We describe the case of a 30-year-old female who experienced severe neurological symptoms, including memory loss, disorientation, paranoia, hallucinations, and urinary incontinence, just 3 days after receiving the Pfizer-BioNTech COVID-19 vaccine booster. Magnetic resonance imaging (MRI) revealed multiple T2 lesions with contrast enhancement consistent with demyelination. The condition rapidly progressed to somnolence, disorientation, aphasia, and quadriparesis. Treatment was initiated with pulse intravenous methylprednisolone, plasma exchange, prednisolone, natalizumab, and high-dose cyclophosphamide, resulting in disease stabilization, which was complicated by febrile neutropenia and meningitis. Fortunately, gradual improvement was observed, with MRI showing no new lesions on the follow-up imaging. Conclusion: The literature review revealed limited case reports on COVID-19 vaccine-induced central nervous system demyelination, with no consensus on its link to the Marburg variant of multiple sclerosis. This case highlights the heterogeneity of MS pathogenesis, risk factors, and challenges in managing severe clinical deterioration. Given the rare nature of Marburg MS, early detection and management of the disease lead to a better outcome and prognosis.
Introduction:Rasmussen's encephalitis (RE) is a rare immune-mediated neurological disorder characterized by refractory focal epilepsy, progressive neurological deficits, and unilateral cerebral atrophy. Although typically a pediatric disease, adult-onset cases account for fewer than 10% of reported diagnoses and remain poorly characterized. Early recognition and prompt immunotherapy are critical to limit irreversible neurological damage. Case Presentation:We report the case of a 46-year-old woman with adult-onset RE presenting with focal non-motor seizures and progressive cognitive impairment. Neuroimaging demonstrated progressive left hemispheric atrophy with hippocampal and mammillary involvement, while continuous electroencephalographic monitoring revealed persistent left frontotemporal epileptogenic activity. Cerebrospinal fluid analysis showed intrathecal antibody synthesis. Immunotherapy with oral tacrolimus was initiated, resulting in stabilization of cognitive decline and reduction of seizure frequency from approximately 30-40 to 15-20 episodes per day. Due to persistent seizures and intolerance to multiple antiseizure medications (ASMs), a classical ketogenic diet was introduced as adjunctive therapy, leading to an additional reduction in seizure frequency of approximately 50% 6 months after initiation, and subjective stabilization of cognitive symptoms despite minimal change in screening scores. Seizure control and clinical state have remained stable up to current follow-up, almost 5 years after combined treatment initiation. Conclusion:This case highlights the potential therapeutic benefit of combining immunomodulatory therapy with ketogenic dietary intervention in adult-onset RE. Beyond its established role in refractory epilepsy, ketogenic therapy may exert anti-inflammatory and neurometabolic effects through modulation of microglial activation, cytokine signaling, and cellular metabolism pathways implicated in RE pathogenesis. The combination of tacrolimus and a ketogenic diet was associated with substantial seizure reduction and stabilization of cognitive impairment in this patient with adult-onset RE. These findings suggest that ketogenic dietary therapy may represent a promising adjunctive therapeutic strategy alongside immunomodulatory treatment in this rare and challenging condition. Further studies are needed to clarify its role in disease progression and seizure control.
Introduction: Osmotic demyelination syndrome (ODS) occurs due to rapid shifts in serum sodium levels and osmolality, resulting in neuronal damage. While it is most often caused by the rapid correction of chronic hyponatremia, other electrolyte imbalances have also been identified as potential triggers. Risk factors include alcohol abuse, malnutrition, and liver disease, among others, with common symptoms including tetraparesis, dysphagia, and altered consciousness. Case Presentation: We report the case of a 45-year-old male with alcohol dependence who presented to the emergency department with hypernatremia (154 mmol/L), altered mental status, and slurred speech. Despite gradual sodium correction, his condition deteriorated, and head MRI revealed findings consistent with central pontine myelinolysis and Wernicke’s encephalopathy. After 5 months of hospitalization for severe ODS, including the need for a tracheostomy and gastrostomy, extensive rehabilitation enabled the patient to regain full independence in daily activities. Conclusion: This is a rare case of ODS presenting with hypernatremia in the setting of dehydration, malnutrition, and alcohol dependence. A preceding chronic osmotic adaptation, possibly related to unrecognized hyponatremia, may have contributed, although this could not be confirmed. Early detection, aided by MRI, was critical. Despite the severity of ODS, gradual correction of hypernatremia and extensive rehabilitation led to substantial recovery, highlighting the importance of long-term management and rehabilitation in improving patient outcomes.
Introduction:Delayed remote intracerebral hemorrhage (rICH) is a well-established complication following flow diverter placement for intracranial aneurysms, with a reported incidence of 5.7%-8.5%. Although rare, similar events have also been reported after coil embolization, predominantly in cases in which adjunctive techniques are used. We report a case of delayed rICH after coil embolization performed with a simple technique in a patient at high risk of thromboembolism. Case Presentation:A 62-year-old female presented with subarachnoid hemorrhage due to a ruptured anterior communicating artery aneurysm. The patient also had suspected lung cancer and a smoking history. Emergency coil embolization was performed using a simple technique under systemic heparinization and dual antiplatelet therapy. Immediately after the procedure, computed tomography showed no abnormalities; however, a follow-up computed tomography scan performed the next day revealed intracerebral hemorrhage compressing the corpus callosum, remote from the treated aneurysm. No bleeding source was identified angiographically. Elevated D-dimer levels were noted postoperatively. Conclusion:Hemorrhagic transformation of microembolic infarctions is considered a possible mechanism of the bleeding. In this case, multiple risk factors (including subarachnoid hemorrhage, malignancy, smoking, and intensive antithrombotic therapy) may have contributed. Although antithrombotic therapy is essential to prevent thromboembolic complications, clinicians should be aware of the rare risk of delayed rICH even when using a simple technique.
Introduction: Hemifacial microsomia with asymptomatic ipsilateral cerebral white matter changes has been reported once previously. We present a case of hemifacial microsomia with asymptomatic ipsilateral cerebral white matter changes, which was complicated by unrelated comorbid optic neuropathy and cerebrospinal fluid (CSF) pleocytosis. Case Presentation: A 54-year-old woman presented with left monocular inferior altitudinal visual field loss and optic disk edema from an optic neuropathy. Her neurologic examination was otherwise normal. MRI brain revealed left cerebral hemisphere white matter nonenhancing T2-weighted signal prolongation concerning for an inflammatory etiology. CSF analysis displayed mild lymphocytic pleocytosis, although protein, infectious studies, cytology, autoimmune/paraneoplastic panel, and other inflammatory markers were normal. Genetic diseases were ruled out. Steroid course did not yield improvement. Over subsequent months, the disk edema resolved leaving optic nerve pallor with a persistent inferior altitudinal defect. Further history revealed congenital left hemifacial microglossia and craniofacial microsomia for which she had reconstructive surgeries. The most likely etiology of her white matter changes was attributed to hemifacial microsomia with extensive ipsilateral white matter hyperintensity, with vision loss secondary to unrelated non-arteritic anterior ischemic optic neuropathy. Conclusion: In patients with craniofacial developmental abnormalities and no other evidence of neurodegenerative or inflammatory disorders, congenital etiologies should be considered in the differential for ipsilateral central nervous system abnormalities. In an era of increased access to both advanced imaging techniques and elective facial reconstructive surgeries, recognition of this association may prevent unnecessary diagnostic testing and reduce the financial and emotional burden for patients with incidentally discovered imaging abnormalities.
Introduction: Spinocerebellar ataxia type 27B (SCA27B) is a late-onset autosomal dominant cerebellar disorder associated with oculomotor abnormalities, particularly downbeat nystagmus (DBN) and saccadic oscillations such as square-wave jerks (SWJ). Although these features are common, their longitudinal evolution and response to aminopyridine therapy remain insufficiently characterized. Case Presentation: We report a 67-year-old male with genetically confirmed SCA27B. At baseline, he presented with cerebellar ataxia (SARA score 11) and frequent SWJ, while DBN was detectable only during head-shaking. After 12 months, mild clinical progression was observed (SARA 12) with the emergence of spontaneous DBN, which intensified during provocative manoeuvres. Treatment with fampridine (20 mg/day) resulted in clinical improvement after two months, reflected by a reduced SARA score (8) and improved gait, stance, and speech. However, video-oculography showed only minimal changes in DBN and no significant reduction in SWJ frequency. Discussion: This case highlights that DBN in SCA27B may initially be detectable only under provocative conditions before becoming spontaneous. Despite clinical improvement with fampridine, objective oculomotor parameters remained largely unchanged, suggesting a possible dissociation between clinical and oculomotor outcomes. Larger longitudinal studies are needed to clarify these relationships.
Introduction: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare condition caused by untreated hypothyroidism, leading to thyrotroph proliferation and pituitary enlargement. Common manifestations include growth disorders, obesity, and hormonal imbalances. PHPH may also present with headaches due to pituitary mass effects, though this is less frequently reported. Despite iodine fortification programs, subclinical hypothyroidism remains prevalent in certain regions. PHPH is often misdiagnosed as pituitary adenoma, emphasizing the need for clinical awareness, particularly in adolescents with atypical symptoms like headaches without classic hypothyroid features. Case Presentation: A 16-year-old female presented with severe, medication-resistant headaches, photophobia, and nausea. MRI revealed pituitary enlargement (12 × 11 × 9 mm) and a Rathke's cleft cyst. Laboratory tests confirmed severe primary hypothyroidism (thyroid-stimulating hormone [TSH]: 117 mIU/L [reference range 0.4–4.5], free T4: 0.34 ng/dL [RR: 0.8–1.8]) and thyroid atrophy on ultrasound. Levothyroxine therapy normalized TSH (2.6 mIU/L) and free T4 (1.26 ng/dL) within 3 months, resolving galactorrhea and improving headaches. Discontinuing treatment led to headache recurrence and elevated thyroid peroxidase antibodies (488 IU/mL), confirming autoimmune thyroiditis as the underlying cause. Reinitiating levothyroxine resolved symptoms, underscoring PHPH’s role in her presentation. Conclusion: This case highlights PHPH as a rare cause of secondary headaches in adolescents, even without classic hypothyroid symptoms like menstrual irregularities. Timely diagnosis via MRI and thyroid function testing is critical to avoid mismanagement. Levothyroxine effectively reverses pituitary hyperplasia and alleviates symptoms, but long-term adherence is essential to prevent relapse. Clinicians should consider endocrine etiologies in unexplained headaches, particularly in cases resistant to conventional therapies, to ensure prompt intervention and improved outcomes.
