Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia.

Methylmalonic acidemia (MMA) is a genetic condition affecting cobalamin metabolism causing elevated serum and urine methylmalonic acid without B12 deficiency. MMA presents with ketoacidotic hyperammonemic coma in newborns and can result in neonatal death or severe neurological disability. Rarely, this diagnosis is missed, or patients do not present until later in life. Presentation of this life-threatening condition is variable in adults. Improvement is rapid with IV cobalamin and a specialized diet. This case is intended to increase clinician's awareness of the late presentation of this disease and the importance of high clinical suspicion and prompt diagnosis. We present a case of a 32-year-old man with seizures, polyneuropathy, ataxia, and memory loss which were unexplained until diagnosis with MMA. We aim to help clinicians understand the variable presentation and diagnostic work-up of MMA to prevent catastrophic missed diagnoses. After an extensive work-up, the patient was found to have methylmalonic acidemia and was promptly treated with high dose vitamin B12 and a specialized diet with low protein including restricted isoleucine, threonine, methionine, and valines as well as a high caloric content. The patient showed significant clinical improvement with this treatment. To our knowledge, this is the first case of MMA presenting with these symptoms in a medically stable adult. The patient was adopted from abroad and therefore, lacked access to normal newborn screenings, further complicating diagnosis. We aim to demonstrate to clinicians the importance of considering this diagnosis in patients in whom symptoms may be suggestive, particularly if they lack access to genetic or metabolic screening.

Neuroleptic Malignant Syndrome Status Post Anoxic Brain Injury: A Case Presentation of Heightened Susceptibility in the Brain Injury Population.

Neuroleptic malignant syndrome (NMS), a potentially life-threatening neurological emergency characterized by muscle rigidity, altered mental status (AMS), autonomic instability, and hyperthermia, is most commonly precipitated by high-potency first-generation antipsychotics due to central dopamine receptor blockade. There is a heightened risk of NMS in animals with ischemic brain injury (IBI) or traumatic brain injury (TBI) due to the resulting death of dopaminergic neurons from injury and the dopamine receptor blockade elicited upon recovery. To the best of our knowledge, this will be the first documented case of a critically ill patient, with a history of prior exposure to antipsychotics, who suffered an anoxic brain injury with subsequent development of NMS after the initiation of haloperidol for the treatment of acute agitation. Further investigation is necessary to expand upon the existing literature suggesting the role of alternative agents, including amantadine, due to its impact on dopaminergic transmission, as well as dopamine and glutamine release. Furthermore, NMS can be difficult to diagnose due to variable clinical presentation and lack of absolute diagnostic criteria, which is further compounded with central nervous system (CNS) injury, where neurological abnormalities and AMS may be attributed to the injury, rather than a medication effect, especially in the early period. This case highlights the significance of prompt recognition with appropriate treatment of NMS in vulnerable and susceptible patients suffering from brain injury.

Effects of COVID-19 on Older Adults: Physical, Mental, Emotional, Social, and Financial Problems Seen and Unseen.

Older adults are vulnerable to coronavirus disease 2019 (COVID-19) and efforts have been made to protect them. However, one protective mechanism, isolation of older adults, has resulted in unintended physical, mental, emotional, social, and financial consequences. We conducted a comprehensive literature review to understand the effects of COVID-19 and the new COVID-19 vaccine on older adults and the factors affecting vaccine acceptance. A review of the literature was conducted to understand the unique challenges COVID-19 creates for older adults. It was found that older adults are significantly impacted by the COVID-19 pandemic and resulting isolation. Physical health can be improved by increasing contact with healthcare providers and opportunities for physical activity. Mental and emotional health can be improved by addressing fear and uncertainty about the pandemic. Social health interventions should be targeted at ensuring older adults have contact with loved ones both in person and in the virtual format. To ameliorate financial concerns, interventions should be targeted at assistance with food and medications.