Neuropathy in a Patient With Congenital Absence of the Inferior Vena Cava.

Neuropathic pain is a frequent complaint in the neurology clinic. We present a case of a 31-year-old male with congenital absence of the inferior vena cava (AIVC) resulting in venous hypertension who complained of lower extremity pain interfering with his daily activities. His AIVC was thought to be incidental rather than causative of his pain complaints. His examination was consistent with peripheral neuropathy. Simple lifestyle adaptations, such as restriction of physical activity and leg elevation, were sufficient to relieve his symptoms. Recognition of the role of AIVC may have prevented additional invasive procedures in our patient.

Clinicoradiological Features of Alexia Without Agraphia.

Alexia without agraphia is a striking vascular syndrome of the acquired inability to read words just written down. This syndrome occurs after lesions in the splenium of the corpus callosum that disconnect the angular gyrus from the visual pathway. Most of the time, a lesion in the left occipital lobe is also present, and patients present with a visual field deficit. It is a classic neurological syndrome that is rarely seen. We present two cases of alexia without agraphia seen in our hospital the same week.

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.

(1) Background: Niemann-Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal-lysosomal pathway. This rare autosomal recessive disorder presents in three forms based on the age of onset. The adult form presents in patients greater than 15 years of age but is rarely seen after the age of 30. Common symptoms of the late adult-onset category of NP-C1 include progressive cognitive impairment and ataxia, with psychiatric and movement disorders presenting less frequently than in other forms of NP-C1. Dystonic movement disorders present most frequently, along with chorea, myoclonus, and parkinsonism. Herein, we present a rare case of NP-C1, diagnosed at age 35 with an initial symptom of supranuclear palsy. The goal of the presented case is to highlight the importance of the neurological examination and an inclusive differential diagnosis in patients with new-onset supranuclear palsy. (2) Methods: A single case report. (3) Results: A 46-year-old male with a past medical history of NP-C1 was admitted to the hospital for respiratory distress. He was noted to have a supranuclear gaze palsy with partially preserved voluntary saccades to the right. His mother revealed that he first had difficulty moving his eyes at the age of 34. After multiple consultations and genetic testing one year later, he was diagnosed with NP-C1. (4) Conclusions: Because NP-C1 affects many regions of the brain responsible for eye movements, neurological eye assessments can be a useful tool in diagnoses. Furthermore, eye movement abnormalities may be the initial presenting symptom of NP-C1, predisposing patients to misdiagnosis with progressive supranuclear palsy and other conditions that may mimic early-stage NP-C1. Definitive diagnosis is achieved through genetic testing. Filipin staining test was the gold standard in the past. The NP-C Suspicion Index was developed to assist in diagnoses, but its efficacy is unclear with late adult-onset NP-C1. Although no cure exists, early identification can facilitate an improved symptom management course for patients. Miglustat, a glucosylceramide synthase (GCS) inhibitor, is the approved therapy in Europe specific to NP-C1 for slowing and preventing the neurological manifestations of NP-C1. Delays between symptom onset and treatment initiation are likely to result in poorer outcomes and a progression of neurological symptoms. High doses may present tolerance concerns, especially in cases of delayed treatment and advanced neurological deficit.

Listeria monocytogenes Brain Abscess Presenting With Stroke-Like Symptoms: A Case Report.

We present a case of Listeria monocytogenes brain abscess in an immunocompromised patient admitted for stroke-like symptoms of headache and aphasia. Computerized tomography of the head revealed a 1.7 x 1.3 cm left frontal lobe lesion with surrounding edema, secondary to stroke, tumor, or abscess. Magnetic resonance imaging brain revealed a ring-enhancing lesion and a small contralateral area of restricted diffusion. Two of the two blood cultures grew an organism identified as L. monocytogenes using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Treatment with ampicillin and trimethoprim-sulfa yielded marked symptomatic improvement. A brain biopsy was consistent with bacterial abscess. The patient's clinical course was favorable, with improved aphasia and negative follow-up blood cultures. A literature review found a limited number of L. monocytogenes abscess cases and none had clear guidelines for diagnosis. Recent studies have proposed five criteria for diagnosis. Our patient fulfilled three of these proposed guidelines.

POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome Masquerading as Chronic Inflammatory Polyradiculoneuropathy: A Case Report.

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome is a rare disorder that can mimic chronic inflammatory demyelinating polyradiculopathy (CIDP). In this report, we present a case of a man with a new diagnosis of POEMS syndrome and a clinical picture of CIDP. He had prostate cancer (s/p prostatectomy) with known diffuse bony osteosclerotic lesions and a monoclonal gammopathy of undetermined significance (MGUS). The objective of this report is to highlight the importance of recognizing POEMS as a rare condition, differentiating it from CIDP, and initiating treatment as soon as possible. The diagnosis of POEMS can be delayed due to its extensive variety of clinical manifestations, and the extensive workup needed for the diagnosis.

Clinical Diagnosis of Temporal Arteritis With Seronegative and Negative Biopsy Studies.

Giant cell arteritis (GCA), also known as temporal arteritis is the most common of the systemic vasculitides. It occurs in individuals older than 50 years of age and peaks in incidence in the seventh decade. The gold standard for diagnosis of GCA is temporal artery biopsy (TABx) which will show transmural inflammation, but a negative biopsy does not rule out the disease. We present a case of a 66-year-old male with a classic clinical presentation of temporal arteritis with a normal erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and negative bilateral temporal artery biopsies. He was discharged on prednisone. Ten days later, he unilaterally stopped his corticosteroid treatment leading to a recurrence of symptoms and conversion to seropositivity (ESR negative and CRP positive). The objective of this article is to point out that the diagnosis of temporal arteritis is clinical and is not discarded by a negative TABx. Patients with classic clinical manifestations of temporal arteritis but with a negative TABx should be treated aggressively.

Ovarian Adenocarcinoma With Leptomeningeal Metastases.

Leptomeningeal carcinomatosis (LMC) is an uncommon disease that unfortunately has a rapid deterioration and a very poor prognosis with a devastating outcome. There has been an associated increase in the incidence of the leptomeningeal disease recently. There is a low percentage of LMC, around five percent of patients with metastatic disease. LMC has been presented in solid tumors such as breast cancer, lung cancer, melanoma, and GI malignancies. LMC is less likely reported in ovarian cancers. The clinical presentation of LMC is variable and will express according to where the cancer cells infiltrate. The malignant cells can travel with the cerebrospinal fluid (CSF) and deposit on the brain, cerebellum, spinal cord, cranial nerves, and spinal roots. We report this case as a clinical anatomical exercise for healthcare professionals.

Management of Pediatric Strokes With Alteplase (Tissue Plasminogen Activator).

In the pediatric population, ischemic stroke is rare. Pediatric patients with acute ischemic stroke are eligible for intravenous thrombolysis and/or mechanical thrombectomy. However, due to the rare occurrence of strokes and national shortage of pediatric neurologists, timely diagnosis and appropriate treatment can be challenging. We report a case of a 16-year-old female who presented with an acute ischemic stroke to our adult comprehensive stroke program.

A Case of Steroid-Responsive Encephalopathy.

Hashimoto's encephalopathy (HE), also known as steroid-responsive encephalopathy, is associated with autoimmune-mediated thyroiditis. Onset is typically gradual often with evolution over the course of months. Characteristic symptoms include impaired concentration and memory, delusions, hallucinations, personality changes, incoordination, tremor, hemiparesis, seizures, and speech difficulties. Diagnosis is predicated upon discovery of elevated anti-thyroid antibodies, specifically anti-thyroid peroxidase (TPO) or anti-M antibodies. Some patients may also present with subclinical hypothyroidism but many are euthyroid. Of note, neither thyroid function tests or antibody titers correlate with disease severity. Other common laboratory findings include elevations in sedimentation rate, liver enzymes, and cerebrospinal fluid (CSF) protein. Radiological work-up, including cerebral angiography, is often normal. Successful treatment includes administration of steroids and/or intravenous immunoglobulin (IVIg) or plasmapheresis. We describe a case of a 74-year-old male who presented for evaluation of abrupt onset confusion ultimately determined to be a consequence of autoimmune-mediated thyroiditis.

Ziprasidone-Induced Oculogyric Crisis in a 74-Year-Old Female.

Oculogyric crisis is a rare ocular dystonia first appearing at the turn of the last century in postencephalitic patients. In the modern era, they were most frequently associated with first-generation D1 dopaminergic receptor blocking antipsychotic medication. We present an unusual case of acute oculogyric crisis in a 74-year-old woman with long-standing Parkinson disease following exposure to the second-generation neuroleptic ziprasidone, which has dopaminergic (D2) and serotoninergic (5-HT2A) receptor blocking effects and is used for severe delusions and psychosis. To the best of our knowledge, there are no other published reports.