Case Report: Levamisole-Induced Vasculitis after Cocaine Ingestion

Background: Levamisole, a common anthelmintic, is estimated to be present in up to 70% of the cocaine found in the United States. The exact mechanism of interaction between Levimasole and cocaine use is unknown. One such complication of ingestion of Levimasole contaminated cocaine is Levimasole Vasculitis. Here we report a case of the clinical presentation of Levimasole Vasculitis, and the emphasis on proper and thorough history taking when arriving at a diagnosis. Case Presentation: Our case begins with a 71-year-old male with a history of COPD, hyperthyroidism, and polysubstance abuse who presented to the hospital with weakness, neck stiffness, chest pain, and chills. Patient initially was a poor historian and uncooperative, and stated his fatigue symptoms had begun around 7 days ago, and has progressively gotten worse. He stated that over the last 4 days he had noticed painful darkening lesions on his face and nose. Upon examination of the patient there were black and purple macules and patches on his chest, abdomen, and lower extremities. Additionally, there were dark purple skin discolorations on half of both of his ears, and purple and black necrotic skin at the tip of his nose. Initial differentials included meningitis, purpura fulminans, and autoimmune purpuras such as ITP and TTP, and immunological assays revealed an elevated P-ANCA with all other values within normal limits. Urine toxicological screening was positive for cocaine and benzodiazepines. Further interviews with the patient revealed he indulged in daily cocaine and alcohol use. However, he additionally disclosed that three of his other associates used the same cocaine he had ingested in the last week, and all three of them developed the same purpuric skin lesions on their face and extremities. Literature review done by the medical team revealed consistency of the lesions with Levamisole Vasculitis. The patient left AMA before any treatment regimen could be established. Discussion & Conclusions: Levamisole-induced vasculitis is an uncommon result of cocaine usage, and can be puzzling to diagnose without proper background. Suspicion of Levamisole vasculitis should be high in any patient presenting with new onset purpuric rash and concomitant cocaine use. Careful consideration to the history and physical taking is a crucial component of the medical decisionmaking process. Here, we correlate careful and thorough interviewing with the discovery of a rare sequelae of cocaine usage

Case Report: Congenital Myasthenia Gravis- A case for newborn screening?

Background: Myasthenia gravis is an autoimmune neuromuscular junction disorder which can result in involuntary muscle weakness. It commonly affects various muscular groups involving the eyes, face, arms, legs, and even muscles used for breathing. Most often Myasthenia Gravis affects adults, but it can occur in the pediatric population. Congenital Myasthenia Gravis (CMG) has a broad and variable presentation with many potential differential diagnoses. In rare cases, CMG can present in the first years of life with a fatigable weakness and a severe respiratory failure. In the more common, benign cases, presentation can occur later in life. Here, we present an interesting case of CMG in a male neonate. Through our findings we aim to make the case to introduce a more focused CMG genetic analysis within newborn screening testing as to avoid potential detrimental outcomes, improve quality of life, and decrease the financial burden on the families and healthcare system. Case Presentation: Our case begins with a term male neonate, who shortly after birth required resuscitation with positive pressure ventilation, then blow-by for five minutes after his delivery. Shortly after at 16 hours he became apneic with subsequent respiratory failure requiring transfer to the NICU where he was intubated and ventilated. During his stay in the NICU, the patient required a total of three days of mechanical ventilation, followed by CPAP for one day. The patient was able to tolerate oral feeds on the ninth day of life. Upon genetic testing, no inborn errors of metabolism were identified on his newborn screening, and his echocardiogram, CT and MRA imaging studies of the brain were normal. He did however display prolonged focal discharges on his EEG in the right frontal region, raising concern for seizure risk. Over the course of the next four years, he met few motor milestones, experiencing episodes of respiratory failure on six occurrences. During the next three years, the patient was tested for muscular dystrophy, spinal muscular atrophy, and inborn errors of metabolism, however no conclusive diagnosis could be reached. Eventually genetic testing revealed the diagnosis of congenital myasthenia gravis, displaying signature mutations in RAPSN, N88k and 373del. Pyridostigmine treatment was initiated, allowing proper development, milestone achievement, and physical activities such as walking, and running with minimal fatigue, without further respiratory failure. Discussion & Conclusions: Congenital Myasthenia Gravis is due to mutations in genes involved in the production of proteins required in signaling at the neuromuscular junction. These genetic mutations, resulting in single or multiple different defective proteins, effect various locations at the junction such as the presynaptic membrane, synaptic basal lamina, or the postsynaptic membrane. Available diagnostic panels and whole exome sequencing have allowed further classification of and expanded our understanding of CMG. However, a more rapid and accurate diagnosis of CMG is crucial and can reduce mortality and improve quality of life if caught early. Successful treatment of CMG is feasible, but requires life-altering, and lifelong medical treatment that should be initiated as soon as possible. A focused panel should be included in newborn screening to prevent delay in treatment, harm to the patient, and undue financial burden on families

Case Report: COVID-19 Pneumothorax

Background: As cases of Covid-19 continue to rise, more population subtypes become at risk. Although rare in past years, COVID-19 is becoming more prevalent in children. Last counts obtained show that there are 8,992 cases per 100,000 in children, state hospitalizations rates ranging from 1.7%- 4.0% of their total cumulated hospitalizations with 0.1%-1.9% of all their pediatric COVID-19 cases resulting in hospitalization. As these cases rise, we are still unsure of the immediate or long-term effects in children, and continual observation and documentation of all clinical courses is of the utmost importance. Here, we present an interesting case of a young adolescent male with autism, which has shown to have a connection with abnormal lung architecture, who was diagnosed with COVID-19, followed by pneumothorax, complicated by bullae formation, and producing a vastly complex case not previously reported in the literature. Case Presentations: A 13-year-old autistic male presented hypoxemic and tachypneic to the children’s hospital. History of present illness showed a 4-day history of cough and increasing dyspnea, requiring oxygen at 4 liters/minute at the hospital to maintain appropriate saturations. He subsequently tested positive for COVID-19, requiring treatment with Remdesivir, ceftriaxone, albuterol, and 3% hypertonic saline during his 8-day hospital stay. 15 days after discharge, the child presented back to the children’s hospital with persistent coughing and sharp left inferior-lateral chest pain, with chest x-ray’s displaying multifocal pneumonia and a small left-sided pneumothorax which was treated conservatively. The pain however was not alleviated, and additional imaging with CT showed several bullae, with the largest measuring 7cm x 6cm. This largest bulla was compressing the left diaphragm. Persistent coughing eventually led to the patient experiencing a tension pneumothorax, sending him to the PICU for chest tube placement, which removed over 200mL of air. Follow up Xray showed resolution of the pneumothorax, however the left diaphragm was elevated, and fluoroscopy demonstrated a paralyzed, non-functioning diaphragm. The patient was treated and able to be discharged 8 days later. Discussion & Conclusions: This case displays the drastic effects that can be caused by COVID-19 in the pediatric population. Although children have not been shown to display the same symptoms clinically as adults, we aim to show the urgency and importance of information collection and implementation of standards of care in this population. This case addresses two main issues: the importance of thorough analysis of patients with a comprehensive history, physical, and imaging, as shown here the paralyzed diaphragm and bullae could have potentially been missed leading to further drastic outcomes. Additionally, understanding the compounding effects that genetics may play in the clinical course of children who acquire COVID-19. Anatomic defects connected with autism could have been exacerbated with the COVID-19 diagnosis and played a large part in the formation of this patient’s pneumothorax, bullae, and diaphragm paralysis

Case Report: Recurrent Bell’s Palsy and Genetics

Background: Bell’s palsy, also known as Idiopathic Facial Paralysis (IFP), is a generally common condition, occurring up to 20-30 cases per 100,000 individuals in the general population. Its occurrence can be influenced by a variety of factors such as exposure, immunocompromised states and genetic susceptibility. While uncommon, Bell’s Palsy can recur spontaneously in up to 15% of patients. Here, we present a case of chronically recurrent Bell’s palsy in an individual, and explore the possibility of a genetic component. Case Presentations: Our case involves a 39 year old woman with no significant past medical history who presented with a one day history of neck pain and right facial weakness. She also endorsed a 4 day history of constant unilateral right-sided headache in the parietal region, rated 4/10 with frequent right-sided tearing. Upon further questioning the patient stated this is the third time she has had Bell’s Palsy symptoms, and they have occurred in 10 year intervals, first in 2001, 2011, and now in 2021. The patient noticed similarities of the symptoms throughout each episode, which resolved shortly after each hospital visit with no significant residual symptoms. Past family history revealed a younger sibling who also had multiple episodes of Bell’s palsy, suggesting a possible genetic susceptibility. Physical exam demonstrated mild right-sided facial weakness in a facial nerve distribution. All other cranial nerves were intact. The patient did not demonstrate significant loss of sensation or motor function. All other physical exam findings were unremarkable. Laboratory studies revealed elevated TSH, all other studies within normal limits. Noncontrast CT of the head revealed no significant findings indicative of an acute intracranial process. Patient responded well to Valcyclovir and Prednisone, and was discharged after improvement of symptoms one day post-admission. Discussion & Conclusions: Little is known about the risk factors or genetic susceptibility that can predispose individuals to multiple episodes of Idiopathic Facial Paralysis over a lifetime. Careful history taking and identification of patterns of recurrence can necessitate therapeutic considerations that would not be considered in isolated episodes. Genetics play a large role in our immunity, and can dictate susceptibility to various microorganisms or disease processes. Multiple recurrences in patients that suffer from Idiopathic Facial Paralysis are uncommon, and identification of multiple family members suffering from the same pattern of recurrence can explore the idea of a genetic component to the pathology. Patients with recurrent familial episodes of Idiopathic Facial Paralysis should require thorough diagnostic exploration to exclude any underlying autoimmune, anatomical, neurological or developmental disorders