Discussion: Schizophrenia-like psychiatric symptoms, mood disturbances and behavioral changes occur in 80% of cases in anti-NMDAR encephalitis. The absence of classic prodromal symptoms such as fatigue or flu-like illness with predominant early psychiatric manifestation, as in this patient, makes the diagnosis challenging. These symptoms can easily be mistaken for primary psychiatric disorders, which can delay treatment. Progressive neurologic decline and death can occur without treatment and hence early recognition and evaluation is crucial for timely management. Patients with anti-NMDA receptor encephalitis continue to have residual cognitive, behavioral and psychiatric alterations that can last more than a year. Relapses can occur in 15-24% of patients, sometimes after several years.
initially managed with Olanzapine, Quetiapine and Hydroxyzine. She developed seizure-like activity, raising suspicions for extrapyramidal symptoms unresponsive to benztropine, and subsequently diagnosed as refractory status epilepticus requiring intubation and sedation. A CT of the head revealed no abnormalities. Electroencephalogram showed diffuse slowing with delta waves consistent with severe encephalopathy. Cerebrospinal fluid had lymphocytic pleocytosis with negative microbial cultures. Further work-up showed elevated inflammatory markers and positive ANA. This prompted further workup with an autoimmune encephalitis panel, which came back positive for anti-NMDA receptor antibodies. A 5-day course of high-dose methylprednisolone and intravenous immunoglobulin showed mild
improvement in her mental and functional status. Malignancy workup was negative.
A RARE PRESENTATION OF HEREDITARY CHOLESTATIC LIVER DISEASE IN A YOUNG ADULT PATIENT Vy Luong, Ahmad Anbar, Melanie Bienvenu; Louisiana State University, Lafayette, LA
Introduction: Progressive familial intrahepatic cholestasis (PFIC) is characterized by defective bile acid secretion leading to liver dysfunction, usually present during infancy or childhood, and is associated with growth failure and progressive liver disease. PFIC type I/II is associated with mutations in the ATP8B1/ABCB11 genes. Diagnosis of these conditions relies on genetic testing, liver biopsy, and serologic evaluations. Treatment strategies focus on ursodeoxycholic acid being first-line treatment, followed by bile acid sequestrants or ileal bile acid transport inhibitors. Surgical options, including liver transplantation or biliary diversion procedures, are reserved for severe cases or those unresponsive to medical management. Case: A 24-year-old female with a history of morbid obesity and polycystic ovarian syndrome and no known family history of cholestatic liver disease, presented with diffuse jaundice and itching for two days. The patient noted no recent or current usage of oral contraceptives. Laboratory findings show elevated total bilirubin and alkaline phosphatase levels, but normal transaminases. A serologic work-up for autoimmune hepatitis, primary biliary cholangitis, hereditary hemochromatosis, Wilson’s disease, and drug-induced liver disease
was negative. Genetic testing revealed pathogenic variants in the ATP8B1 gene associated with various forms of intrahepatic cholestasis. A liver biopsy showed severe lobular cholestasis, biliary injury, macrosteatosis, and mild fibrosis. She was diagnosed with cholestatic liver disease, possibly familial intrahepatic cholestasis. Treatment was initiated with weight-based ursodiol and cholestyramine, leading to clinical improvement of symptoms. Discussion: This case highlights a rare and acute onset presentation of cholestatic liver disease in a young adult patient, who presented with very mild clinical symptoms and no known family history of cholestatic liver disease. Mutations in the genes responsible for cholestatic disorders usually generate chronic inflammatory states associated with the risks of developing hepatobiliary cancers but can also be accountable for clinically mild phenotypes. Despite the challenges in diagnosis and management, a multidisciplinary approach involving hepatologists, geneticists, and dietitians is essential for optimal care.
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