ABSTRACT
Narcolepsy-type 1 is a neurological sleep-disorder caused by a selective loss of hypothalamic orexin/hypocretin-producing neurons whose underlying mechanism is considered to be immune-mediated. We report the case of a 16â¯year-old girl with excessive daytime sleepiness, hypnagogic/hypnopompic hallucinations and cataplexy, fulfilling narcolepsy-type 1 diagnostic criteria. She was HLA-DQB1*06:02/DQA1*01:02 positive. CSF analysis demonstrated positive IgG oligoclonal bands, pleocytosis and hypocretin-1 below detection limit. Other autoimmune processes were excluded, including autoimmune encephalitis. After treatment with intravenous immunoglobulins sleep-related hallucinations transiently improved for a month. This case's CSF inflammatory findings support the role of neuroinflammation in narcolepsy-type 1 development in genetically predisposed patients.
Subject(s)
Leukocytosis/cerebrospinal fluid , Leukocytosis/diagnosis , Narcolepsy/cerebrospinal fluid , Narcolepsy/diagnosis , Oligoclonal Bands/cerebrospinal fluid , Adolescent , Biomarkers/cerebrospinal fluid , Female , Humans , Immunoglobulins, Intravenous/therapeutic use , Leukocytosis/drug therapy , Narcolepsy/drug therapySubject(s)
Intracranial Arteriosclerosis/complications , Neurofibromatosis 1/complications , Siderosis/complications , Adult , Humans , Intracranial Arteriosclerosis/diagnostic imaging , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Male , Neurofibromatosis 1/diagnostic imaging , Siderosis/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system caused by JC virus. Only ten cases of PML have been reported so far in liver transplant recipients. We present a case of liver posttransplantation PML with characteristic clinical and brain MRI findings, but with an atypical late onset, developed 11 years after transplantation and after single-drug, long-term (8 years), and low-dose (750 mg twice a day) immunosuppression with mycophenolate mofetil (MMF). This is the latest onset of PML associated to liver transplant reported. The present case should help physicians to be aware of PML after transplantation, even in the long term and even under low doses of immunosuppressants, especially MMF.
