United States

Abstract Title: An Interesting Presentation of Cutaneous Mastocytoma
Background
Mastocytosis is a clonal proliferative disorder in which mast cells accumulate in various organs, most commonly the skin. Mast cell degranulation releases inflammatory mediators, which induce edema, pain, and pruritus. 

Case Presentation
A previously healthy, two-month-old female presented to the emergency department (ED) for what appeared to be a blistering skin infection. Prior to arrival, the patient experienced a transient episode of “beet red” flushing, cheek swelling, and diarrhea. Immediately after, the area on the right ankle was indurated and violaceous with erythematous borders.

The patient was born via vaginal delivery at 39 weeks. Of note, the patient’s mother has a history of genital herpes simplex virus (HSV) and took valacyclovir one month prior to delivery. She reported no active lesions at the time of delivery. 

In the ED, physical exam revealed an approximately two-centimeter ovoid area of mild hyperpigmentation with an erythematous border on the lateral aspect of the right ankle. Overlying this area were multiple vesicles in a cluster, the largest approximately six millimeters in diameter.

HSV and general wound culture swabs of the ankle, as well as blood cultures, were collected. A punch biopsy of the lesion was sent for pathological review, which ruled out cutaneous HSV infection. Additional staining was performed to evaluate for Langerhans’ cell histiocytosis and mastocytosis. Histologic features and immunophenotype confirmed the diagnosis of mastocytosis. 

Discussion
Given the maternal history and concern for potentially fatal complications, the thought was that the patient could have HSV infection. When HSV infection was suspected, a Tzanck smear could have been an alternative diagnostic strategy; however, the sensitivity and accuracy can depend on the interpreter and disease incidence. Because of the relatively low incidence in this geographic region, it is likely that a negative Tzanck smear would have required confirmatory testing via punch biopsy.

Another strategy could have been a wound swab with viral polymerase chain reaction for HSV, a highly sensitive and specific test, but the involved hospital is not large enough to make these assays economically viable. Ultimately, performing a skin biopsy allowed a rapid and definitive diagnosis of this patient.

AMA Research Challenge 2022

An Interesting Presentation of Cutaneous Mastocytoma

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Hemifacial Spasms in the Pediatric Population: A Case Series

Isolated Upper Gastrointestinal Findings in Pediatric Patient Found to Have Crohn’s Disease

Introduction

Multisystem inflammatory syndrome in children rarely involves severe coronary dilation, multiple readmissions, or occurrence after COVID-19 vaccination. We describe the case of a boy aged 5 years with all three of these unusual features.

Case Presentation

A previously healthy 5-year-old male was hospitalized with fever for 4 days, sore throat, myalgias, abdominal pain, conjunctivitis, and rash. Symptom onset was 56 days after acute COVID-19 illness and 16 days after receiving one dose of the Pfizer COVID-19 vaccine. Workup was notable for elevated inflammatory markers, mildly elevated cardiac biomarkers with evidence of SARS-CoV-2 infection, including both SARS-COV2-PCR and anti-nucleocapsid antibody. Patient was diagnosed with MIS-C with Kawasaki features, and demonstrated clinical improvement after treatment with IVIG, steroids and aspirin. Echocardiography during the initial hospitalization was reassuring. On day 7 of MIS-C illness, the patient was discharged with low dose aspirin and prednisone.

A day after completing his course of prednisone, on day 10 of MIS-C illness, patient presented to the emergency room again with fever, fatigue, rash, conjunctivitis, and dry, cracked lips. Labs were notable for thrombocytosis, leukocytosis, and elevated CRP, ESR, and d-dimer. He was diagnosed with recrudescence of MIS-C with features of Kawasaki disease. He was started on IV methylprednisolone 1 mg/kg, and low dose aspirin. Echocardiography on day 11 was significant for newly dilated coronary arteries with no aneurysms, and patient was promptly started on his second course of IVIG, from which he remained afebrile. Repeat echocardiogram was not notable for any changes. On day 14, patient was discharged with a prednisolone taper and low dose aspirin. Until day 20 of illness, he took 1 mg/kg of prednisolone twice daily.

On day 21, patient’s prednisolone was tapered to 1 mg/kg once daily, and he presented with fevers, dry cracked lips, conjunctivitis and abdominal pain on day 23. Inflammatory markers had elevated since previous discharge. Echocardiography was significant for severe dilation to his coronary arteries, especially his right coronary artery (RCA) (4.5 mm) and left anterior descending artery (LAD) (6.7 mm). He began treatment for refractory MIS-C and was started on infliximab and methylprednisolone. He was also given enoxaparin for his coronary artery dilation. On day 25, echocardiography continued to show severe coronary artery dilation, most significant with the LAD. His inflammatory markers and clinical course improved, and on day 28, repeat echocardiography showed no significant change. Patient was discharged on enoxaparin, daily aspirin, and a 30-day steroid taper. He remains asymptomatic, and most recent echocardiogram remains stable with slight improvement. A month after his most recent discharge, his inflammatory markers were found to be increasing, and his steroid taper was adjusted accordingly.

Discussion:

Our patient was admitted three times for MIS-C refractory to initial treatment with intravenous immunoglobulin, corticosteroids and anti-inflammatory agents. Readmission for MIS-C is not common. Among the 457 cases of MIS-C at our institution, this is the only patient to require 2 readmissions for MIS-C. He also developed giant coronary aneurysms. A diagnosis of MIS-C after COVID-19 vaccination is rare. In a study of vaccination in the United States, only one case occurs per million vaccinated children between the ages of 12-20 were noted to have MIS-C after vaccination. Whether or not the patient should receive his second Pfizer vaccine was questioned. Given current CDC guidelines, no future COVID-19 vaccinations are planned until the patient has at least made a complete recovery from his cardiac complications.

Multiple MIS-C Readmissions and Giant Coronary Aneurysm after COVID-19 Illness and Vaccination

Thyrotoxic Periodic Paralysis in a Caucasian Adolescent Male

Background: Femoral nerve palsy can cause gait deficits and knee instability. For its treatment, nerve transfers are preferred. However, this approach is only applicable for a limited window of time. For patients outside of this window or when nerve transfers are not technically feasible, musculotendinous transfers represent a viable alternative. 

Case Presentation: A 39 years-old female suffered a complete transection of the femoral nerve within the pelvis during proximal thigh schwannoma resection. Three years postoperatively she presented with antalgic gait, atrophy of the quadriceps, 0/5 strength in knee extension, and loss of thigh sensation. EMG revealed complete femoral nerve palsy with no recruitment of the quadriceps, sartorius, and iliopsoas muscles. 
The patient elected to undergo an adductor magnus, gracilis, and TFL musculotendinous transfer to the quadriceps tendon. This approach aimed to balance forces by harvesting a hip flexor and hip adductor while preserving hip adductor function by leaving the adductor longus muscle intact. 
Intraoperatively, the gracilis tendon was weaved into the vastus medialis and medial quadriceps tendon. The adductor magnus was weaved into the rectus femoris and vastus intermedius tendons. The IT band was weaved into the vastus lateralis and rectus femoris. By 11 months post-op she had 4/5 in right knee extension and hip flexion strength. Gait analysis revealed active recruitment of the gracilis, TFL, and adductors with improved walking speed and gait symmetry without requiring assistive devices.

Discussion: 
Given the extent, proximal location, and chronicity of her femoral nerve injury, nerve transfers were not feasible for this patient. Therefore, we opted for a musculotendinous transfer. We used multiple leg muscles to attain sufficient knee extension strength. To simplify surgery and recovery we selected easily mobilized muscles with long tendons innervated by her healthy obturator nerve. This technique also had a shorter recovery time as reinnervation is not needed. 
Nonetheless, to relearn basic motor patterns with a new set of muscles and innervations, the patient underwent rehabilitation involving six weeks of immobilization followed by passive rage-of-motion movements and active strength-building exercises. Our subject’s EMG findings, lack of falls, and functional gait improvements further demonstrate these rehabilitation methods’ efficacy.

Adductor Magnus, Gracilis, and Tensor Fascia Latae Transfer Restores Knee Extension and Stability after Femoral Nerve Palsy

Background
The use of matrices in combination with tissue expanders has become increasingly common in implant-based immediate breast reconstruction. Matrices are often divided into either biological acellular dermal matrices (ADM) or synthetic meshes. Synthetic meshes are made from knitted absorbable or permanent fibers. Surgical mesh functions as a scaffold to facilitate natural tissue healing. To further enhance the scaffolding effect, the synthetic mesh can be enhanced with growth factors to promote better tissue integration. We present a technique that incorporates platelet rich plasma (PRP) into a synthetic mesh to promote healing and aesthetic outcomes in reconstruction, revision, and cosmetic breast surgeries. 

Methods
A retrospective chart analysis of patients who underwent a reconstructive, revision, or cosmetic breast surgery using synthetic mesh enhanced with PRP was performed. All patients were seen by a single plastic surgeon ranging from 2020 to 2021. Details regarding patient past medical history, operative technique, and postoperative outcomes were gathered from provider clinical notes.

Results
Twenty-one (37 breasts) patients underwent reconstruction, revision, or mastopexy procedures using Durasorb mesh enhanced with PRP. One patient developed a seroma (4.8%). One patient developed a hematoma (4.8%) in the early postoperative period. Six patients (28.6%) had necrotic flaps. Furthermore, histological analysis of the biological mesh showed excellent tissue incorporation into the native tissue compared to normal surgical mesh.

Conclusion
The long-term absorbable Durasorb mesh enhanced with PRP has potential as temporary tissue reinforcement in patients undergoing breast reconstruction, revision, or cosmetic surgery. However, further investigation is warranted. By utilizing PRP, it allows for the release of additional growth factors that enhance tissue integration.

The Use of Biological Mesh in Reconstructive, Revision, and Cosmetic Breast Surgery

Use of Omental Flap for the Treatment of Upper Extremity Lymphedema

Background: Moyamoya disease (MMD) is a progressive vascular disorder in which the carotid artery becomes narrowed, reducing blood flow to the brain. This most commonly presents as stroke in children and young adults and typically occurs between 5 and 10 years of age in children and between 30 and 50 years of age in adults. MMD survivors have the highest prevalence of mental disorders, including depression, anxiety, and post-traumatic stress disorder {PTSD}. This case aims to increase awareness of an unusual presentation of MMD as a psychiatric disorder. 

Case Presentation: A 16-year-old Dominican boy presented to the psychiatric ER due to mood dysregulation and aggression. He had a medical history of MMD, Sickle cell disease, Frontal lobe epilepsy, and a cerebrovascular accident in 2019. He was all right till 2019; then, he experienced a cerebrovascular accident/stroke, learned of his diagnosis, and underwent immediate neurosurgical intervention. His home medications include Aspirin, Valproate, and Hydroxyurea. He reported recent aggression and stated he started “beating his brother and would not stop.” He said he often had terrible headaches, and his attack worsened. The COVID-19 pandemic worsened his anxiety and depression. The patient was diagnosed with Mood disorder due to a medical condition. His treatment plan included continued outpatient monitoring with a psychiatrist and continuation of medication.

Discussion: Only psychiatric presentations of MMD are rare in literature. The clinical symptoms of MMD include ischemic stroke, TIA’s, hemorrhagic stroke, epilepsy, headache, and cognitive dysfunction, and they vary depending on age. In children, hyperactivity, impaired concentration, anxiety, mood lability, and poor academic performance have also been described. Identifying and treating psychiatric symptoms is essential to improve the quality of life in patients with MMD.


Mental Distress and Medical Illness in Children and Adolescents with MoyaMoya Disease

Background: Paragangliomas are rare extra-adrenal catecholamine-secreting tumors. Since sympathetic symptoms of anxiety and paragangliomas are similar, diagnosis and treatment can be complicated when these pathologies are simultaneously present.
Case Presentation: Mr. V is a 27-year-old Hispanic male with no past psychiatric history who presented to the psychiatric consult liaison service for concerns of anxiety in the setting of paroxysmal episodes of autonomic dysregulation related to a malignant, metastatic thoracic paraganglioma. The patient asked the nursing staff to check his blood pressure more often in the evening to be aware of an upcoming episode of chest palpitations, sweating, and feeling like he was “going to die,” prior to symptom onset. Psychiatry considered differential diagnoses of generalized anxiety disorder, specific phobia disorder, and anxiety secondary to a medical condition. Lorazepam 0.25 mg one tab at night reduced symptom frequency and severity.
Discussion: Paragangliomas, closely related to pheochromocytomas, are known to present as episodic hypertension, sweating, and tachycardia. Medical sources for this patient’s symptoms might not explain the clinical aspects of the case. The patient developed anxiety triggered by his anticipation of these episodic symptoms which further enhanced the patient's sympathetic stimulation, resulting in increased frequency of hypertensive episodes. Episodic hypertension due to a psychiatric diagnosis like anxiety or panic disorder, even when unaccompanied by a diagnosis of paraganglioma, can result in an undesirable feedback cycle of hypertension and anxiety. Patients with pheochromocytomas, for which current literature is more robust, are six times more likely to experience anxiety and depression compared to patients without pheochromocytomas. The symptoms these pathologies have in common, including hypertension and tachycardia, can be treated with medications that reduce sympathetic nervous system activity, specifically anxiolytic medications like Alprazolam. One case described a patient with concomitant pheochromocytoma and paraganglioma whose sympathetic symptoms were improved with Citalopram. In order to provide the best treatment and symptomatic relief for the patient, psychiatrists need to discuss the importance of identifying and separating the psychiatric symptoms of a medical condition from the medical diagnosis itself.

Paraganglioma and Anxiety, A Physiologic Feedback Cycle: Case Report and Review of Literature

Psychedelic hallucinogens such as psilocybin has seen a resurgence in popularity as a novel therapeutic in psychiatry. Parkinson Disease (PD) is a neurodegenerative disorder with both motor and non-motor symptoms, arising from loss of dopaminergic neurons in the substantia nigra. Given the limited efficacy of current treatment options especially for non-motor symptoms of PD, psilocybin may offer a promising solution. Here I present a case of a patient with symptomatic improvements in the motor symptoms of PD, depression, and suicidality following the ingestion of 10mg and 25mg of psilocybin on two separate occasions as part of a clinical trial. Psilocybin, a 5-HT1A and 5-HT2A receptor partial agonist, was able to exert therapeutic effects in the patient likely via the restoration of disrupted serotonin signaling in PD, which has been well-established in literature.

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Hemifacial Spasms in the Pediatric Population: A Case Series

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