United States

Background:
Myotonic Dystrophy is an autosomal dominant neuromuscular disease with a global incidence of 1 in 8000 worldwide. This condition can be further categorized into myotonic dystrophy type 1 (DM1), having childhood onset, and myotonic dystrophy type 2 (DM2). The DM2 subtype is generally milder and often presents with proximal muscle weakness, especially in the hip girdle musculature, and disabling myalgic pain. Weakness in the neck flexion, finger flexion and tricep extension are also common symptoms. Genetic testing is the gold standard for DM2 diagnosis. Electromyography studies and muscular biopsies provide additional evidence in support of the diagnosis of DM compared to other inflammatory/metabolic myopathies. Despite these multiple diagnostic strategies, current practice lacks guidelines for efficient diagnosis and treatment initiation especially when clinical presentation is unclear.

Case Presentation:
A 65-year-old woman of Korean descent with a past medical history of hypothyroidism presented to her primary care physician for upper and lower extremity swelling, upper extremity weakness, and a positive antinuclear antibody. After ruling out deep-vein thrombosis, furosemide improved her lower extremity edema. However, she continued to experience fatigue, poor appetite, nausea, intermittent dyspnea on exertion, and difficulty with ambulation. The patient went to the emergency department and was started on moderate-dose prednisone. Symptoms improved for two weeks. Then, the patient visited her rheumatologist, and was given an increased dose of oral prednisone with the suspicion of polymyositis, yet little benefit was gained. Muscle biopsy was not ordered due to prior use of corticosteroids. Instead, the patient underwent a nerve conduction study (NCS) and electromyography (EMG). Results from the EMG revealed signs of DM2, including myotonic discharges and positive sharp waves.

Discussion:
During initial evaluation of extremity muscle weakness, current practice often begins with noninvasive measures including laboratory testing and imaging, followed by EMG if suspecting neurological involvement. Muscle biopsy can be done if the diagnosis remains unclear. However, biopsy may be complicated by corticosteroid treatment due to corticosteroid-induced myopathy of type II muscle fibers, delaying definitive diagnosis and pathology-specific management. Especially with this patient’s atypical presentation, deferring glucocorticoid treatment until after muscle biopsy may have improved access to diagnostic testing and earlier initiation of treatments appropriate for the pathology at play. Muscle weakness can encompass numerous etiologies, so early EMG and muscle biopsy may be useful tools in distinguishing the cause of symptoms and guiding management to bring greater and longer-lasting symptom relief to patients.


AMA Research Challenge 2024 

Myopathy Mix-Up: The Value of Diagnostic Procedures Before Treatment Initiation in an Atypical Case of Myotonic Dystrophy Type 2

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Abstract Title: Controversy Regarding Reduction Mammaplasty in Young Patients: A Case of Breast Reduction in a 19-Year-Old 

Background:
Previously, breast reductions have rarely been performed on young women, largely due to concerns regarding postoperative regrowth of the breasts and decreased breastfeeding ability, among others. However, many younger patients suffer from the same symptoms as adults who pursue reduction mammaplasty and could benefit from the procedure. Previous research has shown high long-term satisfaction rates in patients who underwent reduction mammaplasty, even in adolescence and young adulthood. These factors have led to much controversy regarding the appropriateness of breast reduction in young patients.

Case Presentation:
Here, we present the successful use of reduction mammaplasty in a 19-year-old female who was five feet four inches tall, 160 pounds, and who wore a 40 I cup size bra. The patient presented with back, neck, and shoulder pain along with inframammary rashes resulting from macromastia. Following ultrasound and physical exam, no additional problems associated with her breasts were identified. However, she reported that her paternal aunt and grandmother had breast cancer, and that her mother had undergone reduction mammaplasty years prior. Bilateral reduction mammaplasty was determined to be a medical necessity. The patient was informed of the risks associated with the procedure, and she chose to proceed with surgery. The patient did not suffer any complications, had very good wound healing, and was satisfied with the result.

Discussion:
Meta-analysis maintains that reduction mammaplasty can reduce breastfeeding ability and that postoperative breast growth can negate the positive effects of the procedure. Though postoperative regrowth of the breasts rarely requires surgical correction, concerns are warranted as secondary operations are challenging, complex, and carry much higher complication rates than primary reduction mammaplasties. Despite the risks, however, many younger patients can receive substantial benefit from breast reduction. Therefore, decisions to perform surgery are best made on a case-by-case basis. Surgeons must be sufficiently informed of this controversy prior to surgical consult so informed consent can be obtained. Furthermore, young patients must not be denied the opportunity to discuss reduction mammaplasty as a treatment option so long as they have reasonable goals and adequate comprehension of the potential risks.

Controversy Regarding Reduction Mammaplasty in Young Patients: Breast Reduction in a 19-Year-Old

Background
Palmoplantar keratoderma is a rare condition characterized by progressive thickening of the skin on the palms and soles of the feet. In severe cases, it can lead to complications such as sepsis and lifelong disabilities. Traditionally, it has been managed medically with emollients, keratolytics, vitamin supplementation, and surgically with debridement, often leading to recurrence. We present this clinical vignette to highlight the management of severe palmoplantar keratoderma through a nuanced approach involving tissue excision down to the subcutaneous level. To our knowledge, based on a PubMed search using 'Keratoderma, Palmoplantar, Diffuse' [Mesh] and reviewing 265 articles, this approach has not been reported before with 16-year follow-up data.

Methods
The patient presented as a five-year-old girl with severe palmoplantar keratoderma, resistant to medical management. She had been wheelchair-bound with repeated hospital admissions for sepsis. She was initially managed with episodic deep debridement, which offered temporary relief followed by rapid recurrence. After obtaining informed consent, the decision was made to excise the keratoderma from her feet, removing the dermis and subcutaneous tissue. After excision, Integra was placed with negative pressure wound therapy (NPWT), followed by a second layer of Integra with NPWT. Final coverage was achieved with a thin split-thickness graft. For the hands, a similar procedure was performed with excision down to the palmar fascia, extending to the subcutaneous tissue of the fingers, which were pinned straight to reduce the possibility of contracture. After negative pressure wound therapy and granulation, a thin split-thickness skin graft was placed.

After 6 months of walking as a middle school student, there was a breakdown of the heel to the plantar fascia, which was managed using a rectus free flap for heel reconstruction, followed by a conventional split-thickness skin graft. The flap subsequently shrank, with no recurrence.

Results
After 16 years, the patient is now a college student who walks with stability in her hands and feet. She can take notes, type, and has almost a full range of motion in her fingers. The patient reports that she is able to lead a normal and productive life.

Conclusion
Our case report highlights a novel surgical approach that can potentially be used for the treatment of severe palmoplantar keratoderma. It also underscores the challenges of managing this rare and severe condition with conventional treatments and emphasizes the need for innovative surgical solutions for its management.

Cutting Through Complexity: Surgical Management of a Severe Palmoplantar Keratoderma

A keloid arises when the skin’s healing process becomes disorganized. The excessive production of collagen forms a raised thickened scar that extends beyond the boundaries of the original wound (1). 
Individuals may develop keloids sporadically or be genetically predisposed, however, the abnormal scarring can pose cosmetic and functional challenges for those affected. Given the potential for regrowth or ongoing growth, management can involve a combination of approaches, including surgical excision, laser therapy, radiation therapy, intralesional or topical steroids, cryotherapy, topical silicone, and pressure therapy (2,3). This clinical case report describes the multimodal management of a keloid that developed in an uncommon and unique location, the site of a previous central venous catheter placed at the subclavian vein. The report reviews the patient’s multiple attempts of size reduction, the keloid’s persistent regrowth and enlargement, and the most recent therapeutic approach consisting of surgical excision followed by superficial radiation therapy.

Multimodal Treatment of a Keloid Scar Arising from a Central Venous Catheter: A Case Report

Background:
Bipolar disorder often necessitates intricate medication regimens. Concurrent treatment for tuberculosis (TB), particularly with rifampin, can precipitate significant drug interactions with psychotropic medications. This case highlights the critical challenges of managing a young patient with comorbid bipolar disorder and TB, emphasizing vigilant monitoring, interdisciplinary collaboration, and nuanced medical ethics.

Case Presentation:
A 20-year-old student with bipolar disorder presented for psychiatric evaluation following discharge from inpatient care. His medications included clonazepam, Depakote ER, isoniazid, rifampin, and vitamin B6. Two weeks later the clinic was informed that the patient hadn't slept for days, was pacing incessantly, and kept muttering about "hidden messages" in his textbooks. Upon evaluation, the patient’s speech was rapid and disorganized, and he believed his professors were part of a conspiracy to infect students with TB. The patient was readmitted.
Over the next three months, the patient's condition fluctuated dramatically. Some days, he was lucid and apologetic about his paranoid beliefs. Other days he slept 16 hours straight. The psychiatric team, in collaboration with infectious disease specialists, adjusted antipsychotic medications, introducing clozapine and later olanzapine, while constantly monitoring for interactions with the TB regimen. The patient stated: "I'd rather risk TB than lose my mind."

A unique ethical dilemma was created as providers were forced to balance patient autonomy while also continuing to safeguard public health. The decision was made to temporarily discontinue the patient’s TB regimen, which resulted in significant psychiatric improvement. After interdisciplinary discussions, TB treatment was restarted with rifabutin and isoniazid.

Discussion:
This case underscores several critical points:
1. Medical Ethics: Balancing patient autonomy with societal obligations regarding TB required careful consideration of medical ethics.
2. Medication-Induced Psychosis: Rifampin can trigger psychosis in susceptible individuals, necessitating careful management in patients with pre-existing mental health conditions
3. Balancing Treatments: Clinicians must weigh the risks and benefits of necessary medical treatments against potential psychiatric exacerbations, highlighting the importance of monitoring for neuropsychiatric adverse effects in TB treatment.
4. Drug Interactions: Rifampin's enzyme-inducing properties significantly impacted the efficacy of the patient's psychiatric medications, requiring frequent adjustments. Rifampin induces cytochrome P450 enzymes, particularly CYP3A4, which can reduce plasma concentrations of various psychotropic drugs, including clozapine and olanzapine.
5. Interdisciplinary Collaboration: Effective management required seamless communication between psychiatrists, infectious disease specialists, and pharmacists. Integrated care for TB and mental health is crucial.

The complex challenges in treating dual diagnoses highlights the critical role of interdisciplinary collaboration and ethical considerations in optimizing patient and public health outcomes.

A Case Study Navigating Ethical Dilemmas in the Co-Management of Mental Health and Infectious Disease

Authors: Ruth Agwaze, Grace Ro, Aspen Ainsworth, Bradley Van HeuKelum, Margaret Puelle

Title: Challenges Faced Treating Severe Postpartum Psychosis when Standard of Care is Contraindicated

Background: Thyroid dysfunction is a perinatal complication associated with mood disorders, particularly postpartum depression (Schmidt, 2022). However, there are few accounts of thyroid disorders leading to postpartum psychosis treated with antipsychotic and antithyroid agents (Fulton, 2024) We present a case of postpartum thyrotoxicosis and psychosis in which these medications were ineffective/contraindicated.

Case: A 36-year-old Black female G4P4004 with multiple sclerosis, migraines and anxiety presented to her primary care physician with persistent asymptomatic sinus tachycardia five months after a postpartum pulmonary embolism, despite treatment with propranolol. A few weeks later, she developed palpitations, weight loss, and tremors. Blood work showed free T4 > 4.4 ng/dL (reference range 0.9-1.7 ng/dL), antibodies to thyroglobulin and thyroid peroxidase, and undetectable TSH. She was diagnosed with Grave’s Disease and prescribed oral methimazole. Five months later, she presented to the hospital with diffuse abdominal pain and altered mental status. She had been self-treating with topical vitamin-infused oils instead of methimazole because she feared its side effects. For the next year, she had numerous hospitalizations due to paranoid and erratic behaviors, delusions of being married to a deceased rapper, and over 100-lb weight loss. In the hospital, she received IV methimazole which led to agranulocytosis. Higher antipsychotic and beta-blocker doses were ineffective. She had limited insight and made multiple attempts to leave against medical advice. Due to the need for consistent outpatient follow-up, social distancing, and concerns for future fertility, radioactive ablation was contraindicated. This left thyroidectomy as the only option, but she refused surgery when she was previously in a lucid state. Endocrinologists, psychiatrists, neurologists, and legal/ethical consultants concluded that treatment over objection was not acceptable because the patient was not in a life-threatening thyroid storm. Plasmapheresis was discussed, but this placed the patient at risk without guarantee that psychosis would resolve. One day, she spontaneously regained lucidity and consented to a thyroidectomy. She eventually returned to her baseline after weeks of levothyroxine treatment, and her tachycardia resolved. 

Discussion: This case demonstrates the diagnostic and therapeutic challenges of treating psychosis in the setting of postpartum thyroiditis, as well as ethical implications of treatment in patients with limited capacity. 

Conclusion/implications: This case provides further evidence that postpartum thyroid dysfunction can lead to postpartum psychosis. More research is necessary to understand the relationship between postpartum thyroiditis and psychosis, as well as guidelines for patients who may not respond to typical treatment regimens. 

References: 
1. Fulton, A., Mittal, N., & Deb, A. (2024). Postpartum Psychosis as a Consequence of Thyroiditis Versus Relapse: A Diagnostic Dilemma. Cureus, 16(1), e52357. https://doi.org/10.7759/cureus.52357
2. Schmidt, P. M. D. S., Longoni, A., Pinheiro, R. T., & Assis, A. M. (2022). Postpartum depression in maternal thyroidal changes. Thyroid research, 15(1), 6. https://doi.org/10.1186/s13044-022-00124-6

Challenges Faced Treating Severe Postpartum Psychosis when Standard of Care is Contraindicated

Background
Malingering involves intentional falsification of symptoms for external gain, affecting 8% of medical cases and costing $150 billion annually. Detection is challenging due to its episodic nature. The DSM-IV- TR classifies malingering as a condition of clinical attention without precise criteria. Socio-economic factors contribute to its prevalence among prisoners, employees avoiding work, and homeless individuals seeking benefits.

Case Presentation
A 32-year-old homeless male was admitted from the ED under suicide precautions. He traveled from another state seeking a new start but lacked support. Previously hospitalized for hypoglycemia while on escitalopram and cyproheptadine for PTSD, he was admitted to our hospital's general medical floor. He was referred to our team for inpatient psychiatric consultation due to possible suicidal ideation. The patient reported a "medium" mood with lapses in medication adherence due to a TBI from an MVC three months ago. He denied current suicidal ideation, hallucinations, or mania, attributing suicidal thoughts to missed SSRI doses. His PTSD originated from the MVC that rendered him paraplegic and caused the death of the driver and the traumatic loss of his parents in the Iraq War in 2010. He experiences nightmares and flashbacks but denies hypervigilance. His history includes a suicide attempt in 2010 leading to hearing loss and several psychiatric admissions for suicidal ideation. He recounted an interrupted suicide attempt where a bullet struck metal and lodged in his leg, later removed surgically. Concerns arose due to dramatic and questionable details, further complicated by the attending physician recognizing him under a different identity. Physical therapy for paraplegia showed inconsistencies in sensory perception, with intact sensation in all extremities but claimed loss in the lower extremities.

Discussion
Factitious disorder and malingering were assessed through evaluations by the primary team, Neurology, and physical therapy. For example, factitious or malingered insulin use involves assessing insulin levels to differentiate between exogenous and endogenous sources. Managing these disorders involves confronting the patient with gathered information. In this case, when confronted with his prior name, he confirmed previous use. Regarding the falsification or malingering of paraplegia, the teams informed him that placement in a nursing home or subacute rehabilitation was not possible because his clinical exam did not indicate acute or subacute rehab needs Having a primary care physician can help mitigate malingering, though this is difficult for homeless patients. Hospital protocols should ensure thorough history evaluations and vigilance to manage malingering cases.



Challenges in Detecting and Managing Malingering Disorder

Gastroesophageal reflux disease (GERD) is a chronic gastrointestinal disorder characterized by the regurgitation of gastric contents into the esophagus. In this case, we describe a pediatric patient with a with a history of reflux symptoms that have been evaluated via endoscopy who presents to the clinic for evaluation of his anxiety. Upper GI endoscopy demonstrated mild inflammation with an unremarkable biopsy. However, reflux symptoms continue to persist as his anxiety has been increasing. The current base of knowledge regarding pediatric GERD and anxiety is small, and challenges remain in discovering a definitive causative link between the two.

Generalized Anxiety Disorder and Gastroesophageal Reflux Disease in a Pediatric Patient

Abstract Title
Psychosis Due to B12-Deficiency Followed by Steroid-Induced Psychosis Without Psychiatric History

Background
Both B12 deficiency and corticosteroid use can present clinically with neuropsychiatric manifestations like a manic episode, including personality changes, poor concentration, memory impairment, delirium and psychosis. Underlying mechanisms for such mental changes in B12 deficiency include alterations in one carbon metabolism, genetic vulnerability, and variability in folate metabolism. Neuropsychiatric symptoms of B12 deficiency typically improve with B12 supplementation, but may lead to irreversible cognitive impairment. For Corticosteroid-induced psychotic disorder (CIPD), there appears to be a dose-dependent relationship with prednisone doses greater than 40 mg per day and psychiatric manifestations. Termination of the steroid typically leads to neuropsychiatric symptom resolution within two weeks, but can last from days
to months. Severity of symptoms can be minimized with antipsychotics or mood-stabilizing medications.
This case discusses a rare scenario in which a patient with no known psychiatric history experiences two episodes of psychosis caused by different organic causes (B12 deficiency, corticosteroid use) within 7 months.

Case Presentation
A 61-year-old male with a past medical history of hypertension and hyperlipidemia, and no prior psychiatric history presents to the ED for mania-like symptoms including elevated mood, decreased need for sleep, pressured speech, grandiosity, and distractibility. Lab results revealed severely low B12 of 50 mcg/ml, and the patient was discharged with a diagnosis of Psychotic Disorder due to another Medical Condition. In the subsequent weeks, the patient’s psychiatric symptoms resolved with consistent B12 supplementation. 
Six months later, the patient presented outpatient for symptoms of left ear labyrinthitis and was prescribed 60mg prednisone daily for 20 days. 14 days into the course, the patient began to experience similar mania-like symptoms and presented to the ED. Laboratory workup was unremarkable including normal B12 levels, and he was transferred to inpatient psychiatry. The patient was diagnosed with Steroid-Induced Psychosis and started on Depakote 500mg BID and Zyprexa 10mg nightly. He was discharged 2 days later after considerable improvement in severity of symptoms

Discussion
Additional study of organic psychoses is needed to understand how to treat symptoms for acute stabilization vs. long-term prevention and describe the underlying predispositions to and mechanisms of psychotic symptoms in each context. There is no known link between prior psychosis due to B12 deficiency and risk of CIPD. More research is needed to explain the etiology of episodic neuropsychiatric symptoms in patients with no known psychiatric history, and whether primary psychiatric disorders such as Bipolar I better explain the symptoms.

Recurrent Psychosis without Prior Psychiatric History: B12-Deficiency Followed by Steroid-Induced Psychosis

Refractory Anti-NMDA Receptor Encephalitis Improved with Bilateral Salpingo-Oophorectomy 

Alyssa Jackson, Rachel Billingsly, Kristin Olson, Miguel Yerena, Lauren Stogner, Shefali Hegde, MD, Rizwan Hassan, DO, Taylor Wallace, MD, Alex LaFever, MD, David Spiegel, MD


Anti-NMDA Receptor (anti-NMDAR) encephalitis is the most common type of autoimmune encephalitis, characterized by antibodies directed at the NR1 subunit of NMDA receptors. Decreased NMDA signaling is thought to be the cause of the characteristic neuropsychiatric features. It is a paraneoplastic syndrome, most commonly associated with ovarian teratomas. The disease course involves a viral-like prodrome phase that rapidly progresses to psychiatric symptomatology within weeks to months of onset ranging from deficits in memory, speech, and cognition, to seizure, autonomic dysfunction, altered mental status, and disorganized movements. Prompt diagnosis and treatment is vital as 20% of patients develop focal deficits or die from the resultant encephalitis, with another 10% relapsing within 1-2 years. This novel case report describes a refractory case where empiric bilateral oophorectomy, with subsequent negative pathology, led to symptom resolution.

This was a case of a 32-year-old female with a past medical history of HSV and no past psychiatric history that presented after a witnessed tonic-clonic seizure. UDS was positive for cannabis and cocaine, initially concerning for substance-induced delirium, but with sustained confusion and agitation. Lumbar puncture revealed a mild lymphocytic pleocytosis. CSF studies were positive for anti-NMDA receptor antibodies. A malignancy work-up was negative. She received a course of IVIG and steroids, PLEX and steroids, and then rituximab with only modest improvement. Whole body PET scan was considered, but logistically difficult to obtain due to need for transportation to another facility and ongoing agitation requiring physical restraints. Diagnostic laparoscopy was unremarkable, and a right salpingo-oophorectomy was performed; the pathology report was negative for micro-teratoma. With only minimal symptomatic improvement after nearly 2 weeks, she returned to the OR for an empiric left salpingo-oophorectomy, which was also negative for micro-teratoma. Despite negative ovarian pathology, she demonstrated clinical improvement 2 days later and was discharged to long-term rehab shortly after. 

As in this case of refractory anti-NMDAR encephalitis, it is important to exhaust all non-invasive approaches to treatment prior to oophorectomy. Although controversial, bilateral salpingo-oophorectomy should be considered in patients with severe and treatment refractory anti-NMDA encephalitis despite negative imaging. There have been similar cases of anti-NMDA receptor encephalitis described in the literature which have shown improvement after oophorectomy despite negative pathology.


Refractory Anti-NMDA Receptor Encephalitis Improved with Oophorectomy

Background
In June 2023, the FDA released a First Draft Guidance on Clinical Trials with Psychedelic Drugs, reflecting a reemerging interest in using psychoactive compounds like psilocybin to treat conditions such as depression, PTSD, and substance use disorders. Psilocybin, specifically, has shown promising efficacy in treating unipolar depression, with ongoing studies exploring its safety in bipolar II depression. However, its significant serotonergic activity raises concerns about potentially triggering manic episodes in susceptible individuals. Existing clinical trials of psilocybin have historically excluded patients with bipolar disorder, and literature is scarce regarding psilocybin-induced mania.

Case Presentation
The patient is a 16-year-old male with a history of depression, was brought to the emergency department by police following erratic behavior reported by his family. He had new-onset decreased need for sleep, pressured speech, grandiosity, and paranoia. On exam, he reported high energy and made several grandiose statements, such as that he believed he could achieve anything and fly if he wanted to. He admitted to consuming chocolates infused with magic mushrooms and cannabis. Despite his regular cannabis use, there had been no recent change in frequency or type. Lab work, including urine drug screen (UDS) and liver panel, were positive for THC and mildly elevated LFTs, respectively. Due to safety concerns related to his high-rise living situation, he was hospitalized. The patient was initiated on risperidone due to signs of both mania and psychosis being present and was recommended for transfer to an inpatient psychiatric facility. On day three, he continued to demonstrate elevated mood, grandiosity, tangential speech, and distractibility, although there were improvements in his sleep. 
The patient was then accepted for transfer to an external psychiatric facility, and the remainder of his clinical course is not known.

Discussion
This case underscores the potential of psilocybin to induce manic episodes, especially in individuals with a personal or family history of bipolar disorder. Healthcare providers should prioritize obtaining comprehensive substance use histories and evaluating past medical and family histories when assessing patients presenting with acute manic or psychotic symptoms. Such practices are essential for assessing the risk of psilocybin-induced mania and formulating appropriate management strategies.
Future research is critical to elucidate the safety profile of psilocybin, particularly in populations with existing bipolar disorder or heightened susceptibility to mania. Understanding these risks is paramount for informing clinical decisions regarding the therapeutic use of psilocybin and mitigating potential adverse outcomes, as highlighted by this case.

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