RÉSUMÉ
Hepatic encephalopathy (HE) is a condition connected with neuropsychiatric alteration during hepatic failure. The differential diagnosis of HE is challenging due to overlapping symptoms with other conditions. Polymerase subunit gamma (POLG) is a mitochondrial gene, and an infant POLG mutation can manifest with severe and progressive hepatic failure and encephalopathy, imposing a difficult differential diagnosis due to similarities to other conditions. The lack of curative treatment leads to a poor prognosis. An 11-month-old boy was admitted to the intensive care unit (ICU) due to altered consciousness and increasing edema due to acute hepatic failure of unknown etiology. After extensive multidisciplinary discussions and a lack of response to treatment for more than three weeks, a mitochondrial disease was suspected, and a genetic test was taken. The patient's condition continued to deteriorate. The patient died on the 25th day of hospitalization in the ICU. After death, a genetic test confirmed a rare POLG mutation NM_002693.3(POLG):c.3104+2T>A (Variation ID: 422378 Accession: VCV000422378.8). We suggest that a screen test for POLG mutations be considered early in the diagnostic process and that clinicians consider mitochondrial genetic mutations, such as POLG mutations, more often. This article is the first to describe a patient with this specific mutation.
RÉSUMÉ
Cerebrospinal fluid shunts are the primary treatment for hydrocephalus. However, prolonged external ventricular drain (EVD) use can lead to central nervous system (CNS) infections such as ventriculitis. In the ICU setting, nosocomial infections with gram-negative, multi-drug resistant (MDR) organisms such as Acinetobacter baumannii (AB) prevail, leading to poor outcomes. AB infections are notably challenging due to their genetic drug resistance. Colistin has been reintroduced for use against gram-negative MDR pathogens but has limitations in CNS penetration when administered intravenously. Therefore, intraventricular (IVT) or intrathecal administration of colistin is recommended to enhance its therapeutic reach within the CNS. We present a case of a 22-year-old male admitted after an electric scooter accident with head trauma and hydrocephalus. A ventriculoperitoneal (VP) shunt was inserted, complicated by a nosocomial neuroinfection. Empiric IV therapy with meropenem and vancomycin was initiated. The VP shunt culture identified AB susceptible only to colistin. Intravenous (IV) colistin was added to meropenem with no significant improvement. The addition of IVT colistin significantly improved the patient's neurological condition and reduced inflammatory markers. The patient experienced one myoclonic seizure during IVT colistin treatment, managed with antiepileptics. After multiple unrelated nosocomial complications, the patient was discharged in good condition to rehabilitation. This case suggests that IVT colistin, combined with IV administration, may be preferable over IV colistin alone. Medical staff should be informed about the correct prevention and care of EVD-associated infections.
RÉSUMÉ
The COVID-19 pandemic caused by the coronavirus SARS-CoV-2 revealed a huge number of problems as well as discoveries in medicine, notably, regarding the effects of the virus on the central nervous system (CNS) and peripheral nervous system (PNS). This paper is a narrative review that takes a deep dive into the complex interactions between COVID-19 and the NS. Therefore, this paper explains the broad range of neurological manifestations and neurodegenerative diseases caused by the virus. It carefully considers the routes through which SARS-CoV-2 reaches the NS, including the olfactory system and of course, the hematogenous route, which are also covered when discussing the virus's direct and indirect mechanisms of neuropathogenesis. Besides neurological pathologies such as stroke, encephalitis, Guillain-Barré syndrome, Parkinson's disease, and multiple sclerosis, the focus area is also given to the challenges of making diagnosis, treatment, and management of these conditions during the pandemic. The review also examines the strategic and interventional approaches utilized to prevent these disorders, as well as the ACE2 receptors implicated in the mediation of neurological effects caused by COVID-19. This detailed overview, which combines research outputs with case data, is directed at tackling this pandemic challenge, with a view toward better patient care and outcomes in the future.