Hypoglycemic encephalopathy (HE) is a rare yet critical consequence of extended low blood sugar, often resulting in altered mental status, seizures, and coma. Because its presentation mirrors various other neurological disorders, prompt recognition is difficult, and treatment delays risk permanent brain damage. This report describes a 56-year-old Black man with Type 1 diabetes mellitus (DM) on Neutral Protamine Hagedorn (NPH) insulin who discovered nonresponsiveness roughly eight hours post insulin injection. Upon admission, he was presented with a blood glucose of 43 mg/dL and a Glasgow Coma Scale (GCS) score of 7/15, with brain magnetic resonance imaging (MRI) findings consistent with HE. Despite immediate treatment with intravenous (IV) 40% dextrose (50 mL), a continuous dextrose-saline infusion, and antiepileptic medication to control seizures, his neurological function stabilized without further improvement, leaving his GCS score between 8 and 10. Following a four-month period of stabilization during home care the patient developed pneumonia and septicemia in the fifth month. This complication triggered progressive neurological deterioration, ultimately resulting in death at five months postevent. This case underscores the importance of timely detection and treatment of hypoglycemia in diabetic patients, particularly those receiving insulin. Regular glucose monitoring, patient education, and careful insulin adjustment are essential to prevent HE and its devastating outcomes.
Despite high recanalization rates with mechanical thrombectomy (MT), large-vessel occlusion stroke results in death or dependency in over half of patients. Cerebrolysin, a multimodal neuropeptide preparation, may attenuate ischemia-reperfusion injury and support early neurorehabilitation. We report a 88-year-old woman with moderate prestroke disability who presented 2 h after the onset of right hemiparesis and aphasia due to M2 occlusion of the left middle cerebral artery. She received intravenous tenecteplase followed by MT, achieving complete reperfusion after three passes with no direct complications and no immediate clinical improvement. Directly postprocedure, cerebrolysin 30 mL/day was initiated as adjunctive treatment. Over the next 24 h, neurological deficits gradually resolved with no hemorrhagic transformation or evident infarct on follow-up CT. As the patient did not require early intensive rehabilitation and regained her prestroke functional status, cerebrolysin was discontinued after three doses. This report is not intended to establish the therapeutic efficacy of short-course adjunctive cerebrolysin. It illustrates how clinical signals from randomized and observational studies can be interpreted for the purpose of individual therapeutic decisions.
Brachial neuritis is a rare inflammatory brachial plexopathy characterized by acute and severe shoulder or upper-extremity pain followed by progressive weakness and sensory disturbances. Commonly associated with viral illness, vaccination, or trauma, it can also occur as a postoperative complication. A 65-year-old gentleman presented with visual loss from a large recurrent pituitary adenoma and underwent an uncomplicated resection. Shortly after surgery, he developed swelling and pain in the right forearm and hand, which later evolved into patchy sensory loss and progressive weakness throughout the arm. Examination demonstrated proximal and distal weakness, muscle wasting, and multifocal sensory deficits without signs of cervical radiculopathy, myelopathy, or carpal tunnel syndrome. Pregabalin and gabapentin provided minimal symptom relief. Electromyography and nerve conduction studies performed 6 weeks later showed a moderate right median mononeuropathy and chronic, inactive C7 radiculopathy, findings that did not fully explain his clinical picture. The clinical presentation was most consistent with probable postsurgical Parsonage–Turner syndrome after exclusion of structural and compressive causes, and the patient improved with physical and occupational therapy, achieving near-complete recovery at 6 months. While early recognition is essential, as electrodiagnostic or radiographic studies may be nondiagnostic, timely therapy can facilitate meaningful functional recovery.
A 44-year-old woman was referred to our epilepsy center for evaluation of refractory seizures persisting for 36 years. Diagnostic workup revealed anti-glutamic acid decarboxylase 65 limbic encephalitis (anti-GAD65 LE), supported by markedly elevated serum anti-GAD65 antibody titers and a compatible clinical presentation. Following initiation of a 6-month course of intravenous immunoglobulin (IVIG), seizure frequency decreased substantially, from 12 to 16 focal seizures per day to approximately one brief focal seizure per month. This was accompanied by improvements in cognition, psychiatric symptoms, and overall clinical function. This case highlights the potential for meaningful therapeutic response to immunotherapy despite prolonged diagnostic delay.
Pregabalin is FDA-approved for the treatment of neuropathic pain associated with diabetes, postherpetic neuralgia, spinal cord injury, and as an adjunctive treatment for partial seizures and thus is a commonly prescribed agent in the primary care, neurological, and pain management settings. Adverse effects of pregabalin include dizziness, somnolence, diplopia, blurry vision, and respiratory depression, as well as delayed dermatological hypersensitivity reactions and weight gain. Pregabalin dosing is influenced by renal function, and dose adjustment should be considered in all patients. A much rarer but serious adverse effect of pregabalin is myoclonus. There have been a few case reports of negative myoclonus in patients treated with both pregabalin and gabapentin; however, these patients tend to have renal dysfunction and typically present with altered mentation. Furthermore, these patients are often treated in the context of refractory epilepsy and are treated with other antiepileptic drugs, some of which can also result in myoclonus. Brief episodes of confusion, diplopia, word-finding difficulty, or other transient neurological deficits, which could be concerning for acute ischemic events in the setting of pregabalin use, have never been described. Here, we present a case report of a patient on long-term pregabalin without renal dysfunction who initially presented as a stroke alert for transient neurological deficits followed by jerking movements consistent with positive myoclonus, which is much less commonly reported than negative myoclonus in the setting of pregabalin usage.
Bell's palsy, the most common cause of idiopathic peripheral facial palsy, is typically attributed to viral reactivation; however, rare cases due to cerebrovascular disease must always be considered in the differential diagnosis. We report the case of a 75-year-old man with poorly controlled hypertension, diabetes mellitus, and a history of smoking who presented with progressive left-sided facial paralysis over four days. Initially suspected to have Bell's palsy due to the lower motor neuron pattern and gradual onset, further neuroimaging revealed a different etiology. T2∗-weighted MRI showed a low-signal area in the left pons, and a noncontrast CT confirmed a small hemorrhage. This atypical presentation, characterized by a gradual onset and absence of additional neurological symptoms, was attributed to focal compression of the facial nerve by the hematoma. The patient was treated conservatively with hemostatic agents, bed rest, and rehabilitation, leading to symptomatic improvement. His symptoms began to improve by the fourth day of hospitalization, and follow-up imaging showed no hematoma expansion, with signs of absorption by Day 7. He was discharged after 15 days. This case highlights the diagnostic challenge in distinguishing Bell's palsy from facial peripheral paralysis secondary to brainstem cerebrovascular events, particularly in patients with vascular risk factors. It underscores the importance of a "selective imaging strategy," emphasizing that neuroimaging should be strongly considered in atypical or progressive cases, even when classic signs of a stroke are absent.
Introduction and Importance:Susac syndrome (SuS) is a rare autoimmune microangiopathy involving the brain, retina, and inner ear. It is uncommon in children, and early diagnosis is essential to prevent irreversible deficits. Case Presentation:A 14-year-old boy presented with decreased consciousness following 18 days of excessive sleepiness, vomiting, blurred vision, and unsteady gait. There was no family history of autoimmune diseases. MRI showed "snowball-like" corpus callosum lesions suggestive of SuS. Cerebrospinal fluid (CSF) revealed lymphocytic pleocytosis and elevated protein. He improved partially with intravenous methylprednisolone but later developed status epilepticus, requiring plasma exchange. During steroid taper, he experienced relapses with visual and gait disturbances. Fluorescein angiography (FA) confirmed branch retinal artery occlusions (BRAOs). Immunosuppressive therapy with azathioprine and rituximab was initiated, achieving disease stability. Clinical Discussion:MRI findings of corpus callosum "snowball" lesions are a key clue for early diagnosis. Multimodal management-including corticosteroids, plasma exchange, and long-term immunosuppression-is essential to control relapses and prevent permanent sequelae. The patient's fluctuating course underscores the need for ongoing monitoring. Conclusion:The identification of snowball lesions in the corpus callosum, in conjunction with a "string of pearls" appearance in the internal capsule, mandates prompt immunotherapeutic intervention. Rituximab is currently regarded as the preferred agent, given that azathioprine has demonstrated limited efficacy in moderating disease activity.
Autoimmune cerebellar ataxia (ACA) is an immune-mediated cerebellar disorder arising from various underlying conditions. Because ACA is potentially treatable, identifying associated neuronal antibodies is important for diagnosis. We report the case of a 55-year-old woman with subacute progressive ataxia who presented with dysarthria and impaired handwriting and gait. Her scale for the assessment and rating of ataxia (SARA) score was 20.5, with particularly high subscores for gait and stance. She had a history of Hashimoto's thyroiditis. Laboratory testing showed markedly elevated antithyroid antibody levels with normal thyroid function, initially suggesting the cerebellar ataxic subtype of Hashimoto's encephalopathy (HE). Cerebral blood flow single-photon emission computed tomography revealed cerebellar hypoperfusion, which was most prominent in the superior cerebellar vermis. Intravenous methylprednisolone (1000 mg/day for 3 days) was administered; however, her response was poor. Further evaluation revealed positivity for anti-Ma2 antibodies, leading to a diagnosis of anti-Ma2-associated ACA. Subsequent intravenous immunoglobulin therapy improved the clinical symptoms and imaging findings, and the follow-up SARA score decreased to 10. Comprehensive imaging revealed no underlying malignancy. This case is unique not only because both rare diseases were key considerations in the differential diagnosis, but also because it is instructive in two respects: the construct of HE remains insufficiently specific and should not preclude consideration of alternative immune-mediated etiologies, and patients positive for anti-Ma2 antibody require sustained oncological surveillance, even in the absence of malignancy at presentation.
Background:Subacute combined degeneration manifests as the degeneration of the dorsal and lateral columns of the spinal cord. Typical symptoms include sensory deficits, weakness, ataxia, and disturbances in gait which can progress to spasticity and paraplegia. Prolonged vitamin B12 deficiency can result in irreversible neurological damage and psychiatric manifestations such as depression, irritability, hallucinations, dementia, and delirium in the affected individuals. To date, only a few cases of schizophrenia with vitamin B12 deficiency with SCD have been reported in the literature. Objective:To report a case of vitamin B12 deficiency with neuropsychiatric manifestations and rabbit ear sign as a radiological clue supporting subacute combined degeneration of the cord in vitamin B12 deficiency. Case Description:A 44-year-old male, who is a smoker and was diagnosed with schizophrenia 18 months ago, presented with a gradual, symmetrical, and painless weakness affecting all four limbs over the past 6 months. Neurological examination revealed spastic quadriparesis with impaired dorsal column. Laboratory tests were suggestive of mild to moderate anemia with a peripheral blood smear showing macrocytosis. Neuroimaging of the craniocervical junction revealed a characteristic "rabbit ear sign" or "inverted V sign". Although serum vitamin B12 and folate levels were within normal range, homocysteine levels were significantly elevated, leading to a diagnosis of subacute combined degeneration (SCD) of the spinal cord secondary to vitamin B12 deficiency. Methylmalonic acid testing was unavailable locally; however, marked hyperhomocysteinemia (> 15 μmol/L) with neuropsychiatric manifestations and anemia strongly supports functional vitamin B12 deficiency, as neurological features may occur in the absence of overt macrocytosis. Vitamin B12 replacement resulted in marked improvement in functional status of the patient, in terms of spasticity, as well as, motor, sensory and psychiatric symptoms. Conclusion:This case highlights the need to evaluate vitamin B12 deficiency in young patients with neuropsychiatric symptoms, even with mild to moderate anemia, as early replacement can prevent irreversible neurological damage from SCD.
IntroductionPatients with multiple sclerosis (MS) are not immune to developing comorbid conditions, including malignant disorders. A new neurologic worsening in a known MS patient, despite being on immunosuppressive or even antineoplastic therapy, could be a malignant condition, other than MS relapse.Case PresentationWe report a middle-aged woman with a known history of MS and under treatment with rituximab from a few years ago, who subsequently developed clinical and imaging features that were not typical for MS relapse, which was pathologically confirmed to be a diffuse large B-cell lymphoma (DLBCL).ConclusionIt is important to consider the possibility of superimposed comorbid disorders, especially malignant conditions, in the setting of immunosuppressive therapy in MS patients. Considering red flags is an important task before the diagnosis of MS relapse as an explanation for new neurologic worsening.
The appearance of eosinophils in the cerebrospinal fluid (CSF) is considered atypical in patients with myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD). In this article, we report the case of a 24-year-old male who received an influenza vaccine and subsequently presented with sensory disturbances in his limbs and trunk, accompanied by urinary retention. On spinal cord magnetic resonance imaging (MRI), T2-weighted images showed intramedullary high-intensity lesions. Meanwhile, brain MRI revealed no lesions. CSF testing showed pleocytosis (180 cells/μL), and eosinophils were present in approximately 6% of the CSF white blood cells. Additionally, MOG antibodies (MOG-IgG) were present in the serum and CSF, leading to the diagnosis of MOG-IgG-associated myelitis induced by immunization following influenza vaccination. It is speculated that perivascular infiltration of eosinophils can occur within demyelinating lesions in patients with MOGAD, possibly due to elevated levels of eosinophil-associated cytokines and chemokines in the central nervous system (CNS) lesions. However, it remains unclear whether immunological responses triggered by vaccination contribute to the secretion of these mediators in such lesions.
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, potentially reversible neuropsychiatric syndrome linked to autoimmune thyroid disease. However, its clinical heterogeneity may stray from the most accepted diagnostic criteria often leading to a delay in its recognition. In this paper, we describe two patients who presented with subacute encephalopathy for which the diagnosis of SREAT was established after the detection of elevated antithyroid antibody titers and the exclusion of alternative etiologies. Notably, both cases exhibited atypical features, namely CSF lymphocytic pleocytosis and leptomeningeal enhancement in Case 1 and a complex differential confounded by multiple comorbidities in Case 2. Treatment strategies included corticosteroid-based immunosuppression, with one patient also receiving intravenous immunoglobulin and thyroid hormone replacement. Both patients demonstrated substantial neurological improvement following therapy, underscoring the reversibility of this condition when appropriately treated. Together, these cases highlight the importance of maintaining diagnostic suspicion for SREAT in patients with unexplained encephalopathy, even in the absence of overt thyroid dysfunction, atypical lab and imaging findings, and a complex past medical history. Early recognition and initiation of immunotherapy can significantly alter outcomes and prevent prolonged morbidity. By presenting these cases, we aim to add to the limited body of literature on SREAT and emphasize the critical role of maintaining suspicion for SREAT in atypical cases of probable autoimmune encephalitis to facilitate timely diagnosis and intervention in optimizing patient recovery.
A 52-year-old female presented with one week of progressive quadriparesis followed by the development of diplopia, dysphonia and dysphagia over 48 h. Initial impression was of an inflammatory myelitis given mild cerebrospinal fluid pleocytosis and diffuse cervical cord swelling extending to the lower brainstem on MRI. Treatment with intravenous methylprednisolone was commenced. Her condition continued to progress with a brief cardiac arrest secondary to diaphragmatic insufficiency due to brainstem involvement. She survived the cardiac arrest after a period of cardiopulmonary resuscitation and was admitted to the intensive care unit. Subsequent MRI suggested a chronic right sigmoid venous sinus thrombosis with venous congestion in the brainstem and upper cervical cord. Digital subtraction angiogram revealed a right dural arteriovenous fistula (DAVF) between the right transverse venous sinus and perimesecephalic veins. The dural arteriovenous fistula was embolised with subsequent rapid improvement in bulbar function. Limb weakness also improved, and she was transferred to a rehabilitation unit for physiotherapy. Our case highlights the importance of rapid recognition of an intracranial DAVF mimicking an inflammatory myelitis in the setting of an acute brainstem syndrome. Symptoms can progress quickly if untreated with the risk of progression following the administration of corticosteroids.
Myasthenia gravis is an autoimmune disorder characterized by muscle weakness due to impaired neuromuscular transmission. While antibodies against the acetylcholine receptor and muscle-specific kinase are commonly used for diagnosis, a subset of patients remains seronegative, necessitating alternative biomarkers. Low-density lipoprotein receptor-related Protein 4 antibodies have emerged as a potential diagnostic marker in seronegative myasthenia gravis cases. However, misleading positive results have obscured diagnosis and management. This study explores the clinical relevance of low-density lipoprotein receptor-related Protein 4 antibodies in myasthenia gravis through four patient case studies. Patients presenting with concern for myasthenia gravis underwent a comprehensive diagnostic evaluation, including antibody testing for acetylcholine receptor, muscle-specific kinase, and low-density lipoprotein receptor-related Protein 4. Volitional single-fiber electromyography was also performed. All tests were employed per standardized laboratory protocols. All four patients were initially evaluated for suspected myasthenia gravis; however, despite positive low-density lipoprotein receptor-related Protein 4 antibody results, comprehensive clinical and electrophysiological evaluation ultimately excluded the diagnosis of myasthenia gravis. These cases underscore the limitations of low-density lipoprotein receptor-related Protein 4 antibody testing.
We present the case of a lady in her early 20s who developed over a few weeks progressive appendicular and limb ataxia and dysarthria. She was found to have a high titer of voltage-gated calcium channel antibodies (VGCCAs) and was started on immunosuppressive and immunomodulating therapy with no further worsening of her neurological status. Subsequent testing revealed that she was also TG6 antibody-positive, and a gluten-free diet was added to her management, following which improvement in cerebellar N-acetyl-aspartate (NAA) concentration (an index of neuronal health/integrity) was noted on magnetic resonance spectroscopy (MRS), while her clinical picture remained static.
Background:The SPAST gene encodes spastin, a microtubule-severing protein. Pathogenic variants in this gene are commonly associated with autosomal dominant Spastic paraplegia type 4 (SPG4), a neurodegenerative disorder presenting with progressive lower limb spasticity. Severe phenotypes involving more extensive neurological impairment are rare. Case Presentation:We report the first known case of an adolescent with a rare pathogenic SPAST variant (NM_014946.4: c.1507C > T; NP_055761.2: p. [Arg503Trp]) presenting with spastic quadriplegia. Additional features included severe intellectual disability, absent speech, dysphagia, and epilepsy, manifestations infrequently reported in association with SPAST mutations. He was born prematurely at 32 weeks of gestation after a complicated antenatal period due to the development of preeclampsia at 23 weeks and gestational diabetes mellitus at 26 weeks. Discussion:The patient's clinical presentation represents one of the most severe phenotypes described in the literature for SPAST-related disorders. The identification of a genetic cause provided a more satisfactory and specific diagnosis than the previously presumed etiology of perinatal asphyxia. This case broadens the phenotypic spectrum of SPAST-related disease and highlights the role of genetic testing in the diagnostic workup of complex neurological conditions. Conclusion:We report the first case of a pathogenic variant in the SPAST gene and quadriplegia and one of the most severe clinical phenotypes described in the literature in association with variants in this gene. This report underscores the importance of considering SPAST mutations in patients with atypical or severe neurodevelopmental presentations. Genetic diagnosis enables more accurate prognosis, individualized medical care, and appropriate genetic counseling for families.
We report the case of a 78-year-old male presenting with debilitating left-sided S1 radicular pain, associated with a positive Lasègue sign and numbness in the S1 dermatome. The patient exhibited mild motor deficits, but his pain was severe enough to impair standing and ambulation. Magnetic resonance imaging (MRI) revealed a cystic lesion at the S1 level; however, the exact etiology remained unclear-differential diagnoses included a Tarlov cyst or a facet joint cyst. No other spinal comorbidities were noticed. Initial conservative management, including intravenous analgesics and C-arm-guided S1 nerve root blocks, failed to provide relief. Due to persistent symptoms, surgical exploration was undertaken. Intraoperatively, a facet joint cyst was identified and successfully excised. Postoperative recovery was uneventful, and the patient reported significant pain relief and functional improvement. This case highlights an unusual presentation of a facet joint cyst located at the sacral level without a visible connection to the facet joint, raising diagnostic challenges on imaging.
Schwannomas, or peripheral nerve sheath tumors, involving the retroperitoneal space are rare, accounting for approximately 3%-5% of all tumors, and most commonly arise from the eighth cranial nerve and spinal nerve roots. Extraforaminal retroperitoneal spinal schwannomas of the lumbosacral region are particularly uncommon and present unique surgical challenges due to their deep location and proximity to major neurovascular structures. Gross total resection remains the treatment of choice; however, conventional posterior and transparaspinal approaches often require bone removal and extensive paraspinal muscle dissection, potentially resulting in postoperative pain, paraspinal muscle morbidity, and spinal instability. We report the case of a 39-year-old female who presented with clinical and radiological features consistent with an extraforaminal retroperitoneal L5-S1 spinal schwannoma. After a thorough preoperative evaluation, the patient underwent complete tumor excision using a backdoor anterolateral retroperitoneal approach, selected to minimize tissue disruption while preserving spinal biomechanics. This approach provided a wider operative corridor with enhanced visualization of the lesion and adjacent neural structures, facilitating safe dissection and gross total resection through the intervertebral foramen without violation of posterior bony elements or excessive muscular stripping. The postoperative course was uneventful, and spinal stability was maintained. This case demonstrates that the backdoor anterolateral retroperitoneal approach is a safe and effective alternative for selected extraforaminal retroperitoneal lumbosacral schwannomas, enabling adequate exposure and complete excision while avoiding the biomechanical compromise commonly associated with traditional posterior approaches.
We report the case of a 36-year-old male who presented with an acute onset of headache, vomiting, and feverish sensation with a history of prior unsafe sexual activity. VDRL and TPHA were reactive in both the blood and cerebrospinal fluid. A diagnosis of neurosyphilis was thus made, and we successfully treated the patient with ceftriaxone and doxycycline. With the increasing global trend of syphilis, the involvement of the central nervous system, neurosyphilis, is an increasing concern too. Due to the vague nonspecific symptoms and variable timing of presentation, it presents as a diagnostic challenge. We report this case to emphasize the need to explore the associated risk factors and consider neurosyphilis as a potential diagnosis because timely recognition and early treatment are essential to prevent irreversible neurological consequences.
