United States

Background: Familial Mediterranean fever (FMF) is a rare autosomal recessive, autoinflammatory disease that causes recurrent attacks of fever and acute inflammation in the body. Here we have a case of a clinically diagnosed FMF pt who has a monoallelic mutation of the MEFV gene. This case is unique as the specific monoallelic mutation found has not been reported to cause FMF on its own.

Case Presentation: 13 yo male presents with 2-year history of frequent fever occurring 2-4 times per week accompanied with feeling unwell. Fevers range from 100.5-101 F, resolve with Tylenol, and can occur with sore throat and abdominal pain. No chest pain, joint pain, or rashes present. Genetic testing and evaluation revealed pt is a heterozygous carrier of a pathogenic variant in the MEFV gene, c.2177T&gt;C (p.Val726Ala). FHx of Ashkenazi Jewish ancestry and SLE on maternal side. Workup of UA, CRP/ESR, liver + BMP, and CBC were unremarkable. Diagnosed patient with FMF type I and started on colchicine trial of 0.9 mg daily which improved symptoms. Raised to 1.5 mg daily after pt tolerated trial and symptoms significantly improved. Clinical diagnosis for FMF based on Tel Hashomer Criteria and improvement of symptoms with colchicine trial.

Discussion: FMF is the most common of the known autoinflammatory diseases. The recessive gene for FMF, MEFV, is carried by Ashkenazi Jewish, Turkish, Arabian, Mediterranean, and Middle Eastern populations. This gene encodes pyrin, a protein thought to regulate inflammation through the IL-1 signaling pathway. Severe heterozygous mutations can sometimes cause FMF in a monoallelic form, but this patient’s specific mutation has previously not been found to cause FMF. This is a unique case which demonstrates a Val726Ala heterozygous mutation to cause clinically significant FMF. Also, this case provides an opportunity to demonstrate proper treatment for this patient presentation. 


AMA Research Challenge 2022

A Unique Monoallelic Presentation of Familial Mediterranean Fever

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Charles Lopresto, DO

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Welcome to the largest national, multi-specialty research event featuring research from 750 medical students, residents and fellows, and international medical graduates.


Background: Familial Mediterranean fever (FMF) is a rare autosomal recessive, autoinflammatory disease that causes recurrent attacks of fever and acute inflammation in the body. Here we have a case of a clinically diagnosed FMF pt who has a monoallelic mutation of the MEFV gene. This case is unique as the specific monoallelic mutation found has not been reported to cause FMF on its own.

Case Presentation: 13 yo male presents with 2-year history of frequent fever occurring 2-4 times per week accompanied with feeling unwell. Fevers range from 100.5-101 F, resolve with Tylenol, and can occur with sore throat and abdominal pain. No chest pain, joint pain, or rashes present. Genetic testing and evaluation revealed pt is a heterozygous carrier of a pathogenic variant in the MEFV gene, c.2177T>C (p.Val726Ala). FHx of Ashkenazi Jewish ancestry and SLE on maternal side. Workup of UA, CRP/ESR, liver + BMP, and CBC were unremarkable. Diagnosed patient with FMF type I and started on colchicine trial of 0.9 mg daily which improved symptoms. Raised to 1.5 mg daily after pt tolerated trial and symptoms significantly improved. Clinical diagnosis for FMF based on Tel Hashomer Criteria and improvement of symptoms with colchicine trial.

Discussion: FMF is the most common of the known autoinflammatory diseases. The recessive gene for FMF, MEFV, is carried by Ashkenazi Jewish, Turkish, Arabian, Mediterranean, and Middle Eastern populations. This gene encodes pyrin, a protein thought to regulate inflammation through the IL-1 signaling pathway. Severe heterozygous mutations can sometimes cause FMF in a monoallelic form, but this patient’s specific mutation has previously not been found to cause FMF. This is a unique case which demonstrates a Val726Ala heterozygous mutation to cause clinically significant FMF. Also, this case provides an opportunity to demonstrate proper treatment for this patient presentation. 


poster

We present a 48yr old male, who presented with left flank pain
and imaging findings of bladder stone and severe right-sided hydroureteronephrosis, found to have left- sided emphysematous pyelonephritis, with bladder stone and severe rightsided hydroureteronephrosis. He initially received bilateral nephrostomy tubes, left- sided perinephric draining tube, and IV antibiotics: however, symptoms persisted. Ultimately, patient underwent left nephrectomy and open cystolitholapaxy with eventual resolution of symptoms.

Emphysematous pyelonephritis requiring nephrectomy and open cystolitholapaxy

Background
Leptomeningeal disease (LMD) is a late stage sequela to a number of malignant cancers including non-small cell lung cancer, melanoma, and breast cancer. Advances in chemotherapy, immunotherapy and targeted therapy have extended overall survival, but have also brought on an increase incidence of LMD. LMD is often associated with communicating hydrocephalus and elevated intracranial pressure due to disruption of cerebrospinal fluid (CSF) absorption. If left untreated, hydrocephalus can be fatal.

Case Presentation
We report an 18-year-old female with a history significant for malignant melanoma presenting with headaches, nausea, and vomiting three months after a craniotomy for metastatic melanoma in the temporal lobe with extension into the lateral ventricle. Ventriculomegaly apparent on brain MRI led to a diagnosis of communicating hydrocephalus, necessitating placement of a ventriculoperitoneal shunt. The shunt was placed without difficulties or complications, and postoperative CT scan demonstrated no ventricular catheter-associated blood. Following a brief
period of improved mental status and alertness, the patient rapidly deteriorated and expired in the six hours following shunt placement due to a diffuse subarachnoid hemorrhage.

Discussion
Communicating hydrocephalus secondary to leptomeningeal disease affects a high percentage of patients with leptomeningeal metastases and is routinely treated with ventriculoperitoneal shunting. Common risks of shunting include intraventricular hemorrhage or intraparenchymal hemorrhage along the catheter tract, as opposed to subarachnoid hemorrhage observed in the present case. Subarachnoid hemorrhage is also an exceedingly rare complication of leptomeningeal disease. The underlying mechanism to the observed subarachnoid hemorrhage is suspected to be related to the diseased state of the vessels within the leptomeninges and the rapid decrease in intracranial pressure from shunt placement. This case brings to light a unique complication that necessitates future consideration to determine incidence, etiology, and risks to patient treatment.

Fatal subarachnoid hemorrhage: A rare complication following ventriculoperitoneal shunt placement for communicating hydrocephalus secondary to melanoma leptomeningeal disease

Abstract Title: Idiopathic Spinal Cord Herniation: A Case Report

Background: Idiopathic Spinal Cord Herniation (ISCH) is a rare condition in which the spinal cord protrudes through an opening in the ventral dura mater of the spinal canal. It is most commonly seen in the thoracic spine and presents as a slowly progressive myelopathy and Brown-Sequard syndrome in 65% of patients. Literature on ISCH consists of fewer than 200 cases and misdiagnosis as posterior arachnoid cyst is believed to be common. Fortunately, advances in medical imaging as well as case reports like this one, are expanding our understanding of ISCH presentation and treatment. 

Case Presentation: A 53 y/o male presented with a four-year history of slowly progressive myelopathy and Brown-Sequard syndrome. MRI imaging was performed but was found inconclusive. Due to challenges in establishing a definitive pre-operative diagnosis, exploratory surgery was performed which identified an opening in ventral dura, and herniation of the spinal cord at the level of T7-T8. Laminectomy and durotomy were performed which allowed access to the spinal cord. The cord was relaxed and brought back into proper alignment within the spinal canal. The ventral opening was then successfully closed with a Duraseal patch. Upon follow up, our patient experienced near full relief of motor and sensory symptoms.

Discussion: Idiopathic spinal cord herniation develops most exclusively at the thoracic level and most commonly in middle-aged women. Herniation of the spinal cord through the dura compresses the cord and leads to a wide range of symptoms – varying from mild motor-sensory deficits to Brown-Sequard syndrome. ISCH has previously been misdiagnosed as posterior arachnoid cyst, which causes a similar presentation due to compression of the ventral cord and nerve roots. Therefore, sagittal contrast MRI and CT myelogram is indicated. Multiple mechanisms of ISCH have been proposed, including developmental disorders, thoracic disc herniation, and history of trauma. Relative scarcity of elastic connective tissue in the ventral dura mater is a proposed contributive factor. As awareness grows and imaging technology improves, accurate diagnosis of ISCH is becoming increasingly possible. This diagnosis is crucial for proper surgical treatment and for optimal patient outcomes.

Idiopathic Spinal Cord Herniation: A Case Report

Large Retroperitoneal Paraspinal Schwannoma causing lumbar radiculopathy- a case report.

ABSTRACT

Background
Schwannoma is a benign, slow-growing nerve sheath tumor consisting of Schwann cells. It is generally located in the upper limb, head, trunk, and flexor surface of lower extremities. Retroperitoneal paraspinal schwannoma is relatively rare. Because of its slow-growing nature, it might be years before any symptoms or signs is observed. However, when there’s one, it usually depends on the tumor’s location, size, and mass effect. We present a case of paraspinal retroperitoneal Schwannoma in a 30-year-old male.

Case presentation 
30 years Asian male presented with a 10-year history of on and off, dull, left lower back and gluteal pain radiating to the lower leg. The patient denies any history of falls or trauma. On examination, motor and sensory exam was normal. The straight leg raise test was negative. Reflex was 3+ in all extremities. Denies any bowel, bladder, or sexual dysfunction. MRI lumbar spine showed a retroperitoneal, solitary, paraspinal mass in the left psoas muscle measuring 4.8 cm AP by 8.1 cm SI by 7.0 cm TV. An image-Guided Biopsy of the mass was performed. Histopathology showed specific Antoni A and Antoni B areas with verocay body, and immunochemistry was positive for S-100 and negative for CD 34 confirming the diagnosis of schwannoma.

Discussion
Retroperitoneal paraspinal schwannoma is relatively rare. Clinical features depend on the size, location, and mass effect of the tumor. It should be considered as one of the differentials for lumbar radiculopathy. MRI of the lumbar spine is the initial imaging study of choice. A definitive diagnosis is obtained by biopsy. Microscopically, it shows specific Antoni A and B areas with verocay bodies. Immunochemistry shows positive S-100 and negative CD 34. Surgical resection is the standard treatment, however, it is wise to closely observe young and/or asymptomatic patients with follow-up MRI. The decision to resect the tumor depends on the size, growth rate, mass effect, and symptoms. The rate of recurrence and malignant transformation is relatively low.

Large Retroperitoneal Paraspinal Schwannoma causing lumbar radiculopathy- a case report.

Background: Amyotrophic lateral sclerosis is a chronic neurodegeneration of the upper and lower motor neurons, and it is either spinal-onset or bulbar-onset. Here we present a case of bulbar-onset ALS with its many typical features.

Case Presentation: Patient is a 47-year-old female with a past medical history of diabetes mellitus, anxiety, depression, and GERD came to the ED complaining of increasing weakness in extremities, worsening unsteady gait, blurry vision, and right side of tongue heaviness. She denied headache, nausea, vomiting or diplopia. Physical exam was unremarkable on admission. MRI revealed pituitary adenoma. The patient was discharged to follow up with her ophthalmologist and endocrinologist. Patient came back to the ED three years later, complaining worsening depression symptoms and gait unsteadiness where she couldn’t walk unassisted. She also complained of progressive trouble breathing and speaking. Patient’s son reported that the patient had increasing mood liability for the past four months, with anger outburst and uncontrollable laughing and crying. She also couldn’t perform her ADLs. The brain MRI redemonstrated stable pituitary mass compressing optic chiasm. Physical exam was remarkable for dysarthria, spasticity was noted on bilateral lower extremities, first dorsal interosseous atrophy, positive left Hoffman’s reflex, and positive bilateral pectoralis reflex. Paraneoplastic panel was ordered, which came back negative two weeks later. Nuedexta was prescribed for her pseudobulbar affect (PBA) syndrome, and baclofen was prescribed for spasticity. Furthermore, the patient was diagnosed with bulbar-onset ALS, as EMG/NCS showed evidence of neuropathy. Patient was provided an order of power chair and non-invasive ventilator, and scheduled for a regular EMG/NCS monitoring lower motor neuron function.

Discussion: This case highlighted the typical progression of bulbar-onset ALS, consisting of dysarthria and emotional liability and it’s mostly common in women. Because of the patient’s history of depression, her PBA may be mistaken as related to her mood disorder. Her incidental finding of pituitary adenoma may have confounded the symptoms of blurry vision and muscle weakness. It also highlighted the challenge of ALS diagnosis as many other neurological conditions can mimic ALS, and the importance of physical exam findings which can lead to early suspicion of ALS.

A Case of Bulbar-onset Amyotrophic Lateral Sclerosis (ALS)

Background: Postinfectious autoimmune encephalitis has been established as a disease mechanism after herpes simplex virus encephalitis (HSVE) and is generally associated with the presence of N-methyl-D-aspartate receptor (NMDAR) antibodies but is not necessarily limited to these.1,2,3 Presentation neuropsychiatric symptoms that develop 3-6 weeks following the initial infection and should prompt the search for underlying autoantibodies, though they are not always present. While symptom improvement has been seen and documented with corticosteroid, plasma separation, immunoglobulin, and rituximab treatment, there are no set guidelines on the length of treatment needed for symptom resolution and relapse prevention.1,2,3,4 


Results: This is a 71-year-old woman who presented with altered mental status and seizure-like activity in the setting of fever. MRI brain showed FLAIR changes in bilateral medial frontal and L temporal/insula region. CSF analysis revealed WBC 58 and HSV1 PCR positive - consistent with HSV-1 encephalitis. Her Mayo autoimmune encephalitis panel was negative. She completed a 21-day course of acyclovir and after a 2-month long hospitalization she was eventually able to return home with only mild cognitive deficits. However, a month post discharge, she started having seizure-like activity with agitation and behavioral disturbances found to be profoundly bradycardic requiring urgent pacemaker placement. Extensive workup including LP and continuous EEG were negative for ongoing seizure activity or recurrence of HSV encephalitis. She was treated with a 5-day course of IV methylprednisolone followed by 2g/kg IVIG without significant improvement in her altered mental status. Mayo autoimmune encephalitis panel was again negative. Family declined further immunosuppressive treatment and 3 weeks post admission decided to pursue hospice. About 6 weeks post discharge to hospice, she had significant recovery in mentation and decline in episodes of agitation. She only received phenobarbital for seizure management during her hospice stay. She is currently one year post discharge from hospice without any new symptoms and is not on any long-term immunosuppressive agents. Repeat MRI is stable. 

Discussion: No specific standard guidelines currently exist for the management of postinfectious autoimmune encephalitis. Many patients are treated with various immunosuppressive agents for a varying time frame depending on clinical course and physician preference. Current practices for long-term treatment of autoimmune encephalitis as found by one study show that 38% of physicians used an oral prednisone taper while 46% used rituximab.5 However, as seen in this case presentation, the patient achieved remission without a long-term treatment, which warrants a further dive into understanding the efficacy of long-term treatment options and practices. 

Conclusions: Relapse of autoimmune encephalitis has been seen with and without long-term treatment, which warrants a further dive into understanding the efficacy and duration of long-term treatment options. 


A Case of Postinfectious Autoimmune Encephalitis Recovery Without Long-term Management

Abstract Title: Anomalous Origin of the Occipital Artery: A Case Report and Literature Review

Background: Many common arterial anatomic variations deserve special attention as they can induce inadvertent brain or cranial nerve injury during interventions. The occipital artery is one of the arteries of interest located in the posterior neck due to its involvement in several vascular lesions and interventions.

Case Presentation: A 40-year-old male underwent an ischemic stroke workup following an ischemic stroke in the right thalamus. An atypical occipital artery origin that arises from the internal carotid artery (ICA) was demonstrated on cerebral digital subtraction angiography (DSA). The right anterior-oblique and lateral projections showed the abnormal origin of the right occipital artery that originated from the anteromedial aspect of the ipsilateral ICA. 

Discussion: Occipital artery anomaly may lead to misdiagnosis of the stenotic segment during radiological evaluation. However, there is no evidence that the aberrant origins of the branches of ICA are involved in atherosclerotic disease. If atherosclerotic plaques or stenosis occur at the proximal part of the internal carotid, it will likely involve the anomalous branches too. Consideration of abnormal origin of OA from ICA is also significant if there’s a collateral flow with an accompanying vertebral artery (VA) stenosis, in the case of endovascular management of patients with carotid artery stenosis. Another noteworthy clinical significance of an anomalous occipital artery is the necessity of its radiological identification before the precise intra-arterial chemotherapy for the management of the malignancies of head & neck. Thus, interventional radiologists should be aware of the aberrant origins of occipital artery from internal carotid for the purpose of avoiding complications.


Anomalous Origin of the Occipital Artery: A Case Report and Literature Review

Background
Autoimmune encephalitis is a rare form of encephalitis most common among women and children. Clinical presentation can vary, with a constellation of symptoms including deficits in memory, cognition, seizures, abnormal movement, psychosis, and coma. Due to variation in clinical presentation and lack of specificity in imaging and laboratory findings, diagnosis and intervention are often delayed for months to years. This can have long-term ramifications especially in pediatric patients, whose neural pathways are still developing. Diagnosis is difficult with nonspecific clinical presentations and changes in personality which can be falsely attributed to growing up or behavioral issues. 

Case Presentation
Patient is a 7-year-old female with presented with 3-week history of migratory, episodic pain in bilateral lower extremities and spine. She was discharged a week prior following hospitalization for similar symptoms with diagnosis of acute musculoskeletal pain secondary to functional neurological disorder. Cause wasn’t identified after imaging: head CT, spinal x-ray, MRI of head and spine were normal. 

Discussion
Autoimmune encephalitis of unknown etiology is a diagnosis of exclusion. She fits the clinical picture and most laboratory findings; however, etiology couldn’t be identified after extensive investigation. In the literature, an infectious cause is identified in less than half of cases, suggesting post infectious/noninfectious elements to her physiology. Children demonstrate changes in neurocognitive testing making diagnosis difficult. Imaging can aid however none are highly sensitive or specific. EEG findings show diffuse slowing and delta brush pattern. MRI shows FLAIR hyperintensity. If CSF doesn’t show antibodies or pathogens, patients could have antibody-negative autoimmune encephalitis.

Autoimmune Encephalitis of Unknown Etiology

Background
Left-right disorientation is most often associated with Gerstmann’s syndrome, a syndrome caused by damage to the dominant parietal lobe which presents with a tetrad of symptoms including left-right disorientation, acalculia, agraphia, and finger agnosia. This disorder is most often caused by a stroke but is also rarely associated with brain tumors and subdural hematomas. There are currently only 4 cases reported in the literature of seizures presenting with Gerstmann’s symptoms.

Case Presentation
A 60-year-old man presented to our neurology office with frequent episodes of decreased awareness and shock-like sensations in his hands and feet. His evaluation showed no major abnormalities including a normal electroencephalogram and magnetic resonance imaging of the brain. He was started on levetiracetam for presumed complex partial seizures. He experienced no further seizure episodes thereafter. During a follow-up visit, he reported new historical details not previously disclosed: since childhood, he had difficulty differentiating between left and right. These symptoms had caused significant difficulties for him throughout his life, leading to special tutoring in elementary school, and trouble learning to drive. He often had to use external cues such as looking at the watch on his left hand to determine left and right. He reported that after starting levetiracetam he became hyperaware of directionality and even felt that his visual field was labeled with “left” and “right”. His left-right confusion had seemed to completely and permanently abate. 

Discussion
The resolution of this patient’s left-right confusion with levetiracetam was dramatic and unexpected. We question whether his left-right disorientation may have been related to underlying seizure activity in the parietal lobe as has been described rarely in the literature. However, the persistence of his left-right disorientation throughout life, even when not actively seizing, is puzzling and would represent a presentation unique from anything currently in the literature. 


Lifelong Left-Right Disorientation that Resolved with Anti-Epileptic Therapy

Background:
Miller-Fisher Syndrome (MFS), a rare subtype of Guillain-Barre Syndrome (GBS), is an autoimmune disease characterized by inflammatory demyelination. The classic presentation is a triad of ophthalmoplegia, ataxia, and areflexia. Rare cases of MFS have been documented following SARS-CoV-2 infection and some SARS-CoV-2 vaccines.
Case Presentation:
A 64-year-old male received the J&J SARS-CoV-2 vaccine on 04/04/2021. He developed gait ataxia, facial weakness, dysarthria, dysphagia, diplopia, and extremity paresis over the following 2 weeks. On 04/23/21 he was diagnosed with GBS based on clinical presentation and albuminocytologic dissociation appreciated in CSF at an outside hospital. He received a 5-day course of IVIG and was discharged home with minimal improvement. 
The patient was re-evaluated on 06/18/2021. Neurological examination was significant for bilateral facial weakness worse on the left compared to the right, patellar and ankle areflexia, and absent pallesthesia below the knees. Gait was ataxic with positive Romberg. Laboratory results showed elevated titers of IgG GQ1b (15000), supporting the diagnosis of MFS. 6 months later, he returned to work and resumed a fully functional life. His dysarthria was minimal; paresis on the right face resolved and was minimal on the left; diplopia completely disappeared.
Discussion:
MFS is a rare GBS variant that is associated with ophthalmoplegia, ataxia, and areflexia. It has been described as a rare complication of COVID-19 infection and Pfizer and Oxford-AstraZeneca vaccines but has not been previously documented in association with the J&J vaccine.
The documented cases of MFS after SARS-CoV-2 infection and vaccination can be anti-GQ1b negative or positive. The only published MFS case with positive anti-GQ1b has limited presentation without ataxia or neuropathy. We present a unique case of MFS with positive anti-GQ1b antibody, suggesting GQ1b molecular mimicry as the possible immunopathogenic etiology.
Conclusion:
This case offers evidence that physicians should be vigilant for neurological complications after SARS-CoV-2 vaccination. MFS is a rare complication but has a good prognosis with early identification and treatment. There is limited evidence regarding factors influencing MFS development post SARS-CoV-2 vaccination, and we hope this case contributes to a better understanding of it.


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Emphysematous pyelonephritis requiring nephrectomy and open cystolitholapaxy

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