A 51-YEAR-OLD MAN WITH WEIGHT LOSS AND CARDIOGENIC SHOCK

CASE: A 51-year-old man without significant past medical history presented to our hospital with dyspnea on exertion. SARS-CoV-2 was detected on routine occupational screening 2 months prior to admission. He subsequently reported a 100lb weight loss, during which time he experienced dysgeusia and ate primarily cereal, sandwiches, and potatoes and consumed nearly no fruits or vegetables. Three weeks prior to admission he developed postprandial nausea and vomiting and anorexia. A week later he developed progressive epigastric pain, lower extremity edema, and dyspnea while walking around the college campus where he worked as a security guard, and sought medical attention. He did not have fever, chills, night sweats, cough, orthopnea, paroxysmal nocturnal dyspnea, rash, or diarrhea. He had not seen a doctor in 20 years and took no medications. He did not drink alcohol, smoke cigarettes, or use illicit substances. Vital signs were T 36.6°F HR 104 BP 149/111 RR 20 and SpO2 97%. Physical examination revealed a cachectic man with bitemporal wasting, sunken orbits, poor dentition, and severe periodontal disease. JVP was 14cm of H2O at 45°. An S3 was present. The abdomen was tender to palpation in the mid epigastrium. The extremities were cool with 3+ pitting edema. Pancreatitis was diagnosed after discovery of markedly elevated lipase levels and peripancreatic fat stranding on abdominal CT. TTE showed biventricular systolic dysfunction with LVEF 15%. He developed cardiogenic shock complicated by oliguric renal failure, congestive hepatopathy and obtundation, requiring ICU transfer for diuresis and inotropic support. Further workup revealed deficiencies of thiamine, zinc, and vitamins A, C, and D. A regadenoson myocardial perfusion PET/CT showed no flow-limiting coronary artery disease, and workup for inflammatory, infectious, and toxic-metabolic causes of heart failure was unrevealing. While COVID myocarditis and multisystem inflammatory syndrome in adults (MIS-A) were considered, ultimately, a diagnosis of wet beriberi was made. After 5 months of aggressive nutritional supplementation via percutaneous gastrostomy tube and initiation of guideline-directed medical therapy, LVEF improved to 53% and weight increased by 35lbs. IMPACT/DISCUSSION: Wet beriberi is a potentially underrecognized cause of dilated cardiomyopathy in resource-rich areas. Within 3 months, thiamine deficiency can cause high-output heart failure due to impaired myocardial energy metabolism and dysautonomia. Risk factors include alcohol use disorder, prolonged vomiting, and history of bariatric surgery. CONCLUSION: The laboratory evaluation of non-ischemic dilated cardiomyopathy should include measurement of serum thiamine, carnitine, and selenium levels in select patients, alongside iron studies, ANA, screening for HIV, Chagas disease, and viral myocarditis, and genetic testing in patients with a suggestive family history. Empiric thiamine repletion should be considered in all critically ill patients with evidence of malnutrition.

Sleep disturbances in craniopharyngioma: a challenging diagnosis

Introduction: The hypothalamus plays a crucial role in regulating vital functions and circadian rhythms. Both the tumor involving the hypothalamic area and its treatment can lead to hypothalamic dysfunction, resulting in disturbances in sleep-wake patterns, sleep fragmentation, and increased daytime sleepiness. We describe two patients with craniopharyngioma who came to our attention due to the occurrence of episodes characterized by psychomotor slowing and afinalistic limb movements, temporal and spatial disorientation, psychomotor agitation, and oneiric stupor like episodes diagnosed as severe sleep disturbances. Case reports: Patient 1 is a 19-year-old male diagnosed with surgically treated craniopharyngioma. Subsequently, episodes of psychomotor slowing, afinalistic movements of the upper limbs diagnosed as seizures in another neurological center appeared;antiepileptic treatment was started without improvement. At the first examination in our center, excessive daytime sleepiness (EDS), fragmented nighttime sleep, episodes characterized by bimanual automatic gestures occurring during drowsy state, hypnagogic hallucinations, and sudden loss of muscle tone while awake were recognized. Actigraphy demonstrated irregular bedtimes, frequent nocturnal activity, and inappropriate daytime rest episodes. The Epworth Sleepiness Scale (ESS) showed subjective EDS (ESS=19). At PSG, hypersomnolence, severe sleep-related breathing disorder (SRBD), and no interictal and ictal seizure abnormalities were found. A BiPAP NIV was started, and antiepileptic therapy was discontinued. In the following months, PSG revealed marked improvement in SRBD and 1 SOREMP, and the MSLT a mean SOL of 6 min and 10 sec and 3 SOREMPs. These data allowed the diagnosis of secondary narcolepsy, and treatment with pitolisant was initiated with clinical improvement and reduced daytime sleepiness (ESS=9). Patient 2 is a 12-year-old male, surgically treated for craniopharyngioma at the age of 4 years, who developed episodes of myoclonic jerks, temporal and spatial disorientation, and psychomotor agitation during the lockdown period for COVID-19 emergency. Surmising paroxysmal epileptic episodes, the patient was hospitalized. The anamnestic data collection revealed a sleep-wake rhythm dysregulation, fragmented nighttime sleep, EDS, oneiric stupor-like episodes during which the patient performed simple automatic gestures mimicking daily-life activity, and severe impairment of alertness. The Long-term video-EEG, including polygraphic measurements, showed destruction of the wake-NREM sleep-REM sleep boundaries, episodes of undetermined state of vigilance, and concurrence of elements typical of different sleep stages. Moreover, a severe SRBD (AHI 19/h) has been observed. The MRI showed a volumetric increase in the post-surgical interpeduncular fossa and right paramedian cysts. Therefore, a multifactorial therapeutic plan including sleep hygiene and slow-release melatonin was started with improvement in nighttime sleep, but EDS persisted. Surgical treatment of cyst fenestration improved sleep-wake rhythm and behavior;BiPAP NIV was initiated with very poor adherence. Discussion: We aim to focus on sleep disorders as a possible complication of tumors involving the hypothalamic region. Our cases highlight that the clinical manifestation of these dysfunctions can be challenging to diagnose and can lead to misdiagnosis and inappropriate treatment that can harm patients' health and the quality of life of patients and their families. Conclusion: These findings support the need to incorporate comprehensive sleep assessment in survivors from childhood brain tumors involving the suprasellar/hypothalamic region.

The Use of Physical Exam in Assessment for Catatonia: Has COVID-19 Impacted Diagnosis Rates?

Background: Catatonia is a syndrome comprised of motor and behavioral symptoms that can have many different etiologies including psychiatric and neuromedical1. The modified Bush-Francis Catatonia Rating Scale (BFCRS) is a widely used screening instrument used for both diagnostic and symptom-severity tracking purposes. BFCRS items can be assessed through observation (patient or chart), verbal interactions, and physical exam. The COVID-19 pandemic has introduced limitations in hands-on evaluation due to infection control measures. We conducted a literature review to assess how often physical exam findings are used in diagnosing catatonia and hypothesize whether the pandemic is increasing under-diagnosis of catatonia. Method: We conducted a search of PubMed, Medline, and psycINFO of case reports from 1996 (when the BFCRS was published2) to present day for each individual item on the BFCRS that appeared in the title and/or and excluded publications that did not use the search terms to describe patient symptoms or did not describe catatonia. We then compared the relative appearances of the physical exam items to the non-physical exam items over the past 25 years. Finally, we compared the number of reports collected June 2020 – May 2021 (to approximate cases occurring from March 2020 – February 2021 during the height of COVID) to the average over the previous 25 years and previous 10 years, to determine if there were less reported cases of catatonia during COVID compared to previous years. Results: The most commonly reported symptoms were mutism (19.4%, z=20.1), immobility/stupor (19.1%, z=19.7), posturing/catalepsy (12.2%, z=10.5), and rigidity (9.3%, z=6.6), chi2=88.2, p < 0.0001. Physical exam symptoms were reported less frequently (14.8% of cases) compared to observed (55.1%) and interviewed symptoms (30.1%), chi2=115.19, p < 0.0001. Physical exam symptoms occurred less frequently than expected (14.8% vs 21.7%) based on number of criteria, chi2=21.34, p < 0.0001. There was no decrease in case reports in June 2020 – May 2021;case reports during COVID made up 8.9% of reports in the last 25 years, and 15.9% of reports in the last 10 years, chi2=13.56, p = 0.0002. Discussion: Our data suggests that physical exam items in the BFCRS are used less frequently than non-physical exam items when diagnosing catatonia. Despite a pandemic with increased isolation precautions, the collected data from case reports suggests that there was not a significant increase in missed catatonia diagnoses. However, catatonia is an under-diagnosed condition generally and physical exam of a suspected catatonic patient by a psychiatrist can be a key element to accurate diagnosis.3 Conclusion: While our literature review has limitations (e.g. searching for terms available only in the title and , not in the body of the paper), we feel confident in saying that physical-exam findings are not used as frequently as non-physical exam findings in diagnosing catatonia. While the physical exam should always be done when possible and can lead to more accurate diagnoses, we do not feel that any potential reduction in physical exams during the pandemic has lead to a significant increase in missed catatonia diagnoses. References: 1. Rosebush PI, Mazurek MF. Catatonia and its treatment. Schizophr Bull. 2010 Mar;36(2): 239-42. 2. Bush G, Fink M, Petrides G, Dowling F, Francis A. Catatonia. I. Rating scale and standardized examination. Acta Psychiatr Scand. 1996;93(2): 129-136. 3. Walther S, Stegmayer K, Wilson JE, Heckers S. Structure and neural mechanisms of catatonia. Lancet Psychiatry. 2019 Jul;6(7):610-619.