Fekete received honoraria from Medlink, Inc

Fekete received honoraria from Medlink, Inc., and serves as consultant for Teva Neuroscience, Inc., and Lundbeck, LLC.. mutism, Catatonia, Orofacial dyskinesia, Stereotypies, Tics, Creutzfeldt-Jakob disease, Sporadic Creutzfeldt-Jakob disease Introduction Sporadic Creutzfeldt-Jakob disease (sCJD) is a prion disease presenting as rapidly progressive dementia that may lead to akinetic NBD-556 mutism [1, 2]. Movement disorder, including chorea, may be present in sCJD. Anti-NMDA receptor antibody encephalitis (NMDAE) can also have a similar clinical course, but presents with a distinct movement disorder. Here we present a case of rapidly progressive dementia with vocalizations and stereotypic movements. Case Presentation The patient is a 59-year-old right-handed female who presented with personality and cognitive changes rapidly progressing to akinetic mutism interrupted by stereotypic movements as described below. Past medical history included non-Hodgkin’s lymphoma diagnosed two years prior to onset of neurological disorder via wedge biopsy of a right mandibular mass. She received rituximab together with cyclophosphamide, vincristine, and prednisolone (R-CVP) chemotherapy. NBD-556 Her regimen was followed by four extra doses of rituximab. Subsequent 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) scans were negative for any neoplastic activity. There was no history in the patient or her relatives of psychiatric disease, dementia, or any other neurological disease including Tourette syndrome. Her family noted progressively unsteady gait, but she was able to ambulate without a cane. Her behavior became more impulsive and at times socially inappropriate. She also became more somnolent and withdrawn. She stopped being able to attend to her own finances and began to forget ages of her close relatives. About three and a half months later, she had a generalized tonic-clonic seizure and was started on lacosamide. On initial evaluation 4 months after onset, she appeared somnolent, arousable to voice, and followed one-step commands. She was oriented to self, place, and month. She was able to say the names of her family members. Her speech was perseverative. She kept her eyes closed and resisted eye opening. She moved all extremities with at least 4/5 power and localized pain sensation in all extremities. Deep tendon reflexes were symmetric, 2+ throughout with absent plantar reflexes. Over the next month, she progressively lost motor and verbal ability to the point that she became bedbound and stopped following commands. She developed bilateral ankle clonus. There was normal muscle tone. She continued to be able to breathe without ventilatory assistance. At 5 months after onset, she became mute except for occasional vocalizations. These vocalizations initially consisted of vocal tics, with grunting and barking sounds identical to those heard in Tourette syndrome patients. At this time, abnormal involuntary movements developed Rabbit polyclonal to COT.This gene was identified by its oncogenic transforming activity in cells.The encoded protein is a member of the serine/threonine protein kinase family.This kinase can activate both the MAP kinase and JNK kinase pathways. which consisted of about 1-Hertz-frequency stereotypic, synchronized bilateral arm and leg contraction, head turning, mouth opening, and periodic eye deviation upward or sideways (see online supplementary video 1, available at www.karger.com/doi/10.1159/000346298). Bilateral grimacing due to episodic frontalis contraction was also present. These movements are nearly pathognomonic for NMDAE [3]. The case fit an intra vitam diagnosis of probable sCJD according to criteria of Zerr et al. and February 1998 WHO guidelines [1, 2]. Clinical diagnostic features included NBD-556 presence of cerebellar disease leading to gait instability, rapidly progressive dementia leading to akinetic mutism, and extrapyramidal symptoms. 14-3-3 protein enzyme-linked immunosorbent assay (ELISA) was positive, which fulfilled the laboratory test requirement of the diagnostic guidelines for sCJD. The movement disorder in sCJD is typically myoclonus, but may include dystonia, chorea, and tremor [4]. Initial electroencephalography (EEG) in NBD-556 our patient showed nonspecific background slowing, but repeat EEG at 5 months after onset did show periodic sharp wave complexes typical of sCJD (fig. ?fig.11). MRI imaging did not demonstrate cortical ribbon or caudate and putamen T2 hyperintensities characteristic of prion disease. Open in a separate window Fig. 1 Periodic sharp wave complexes seen on EEG at 5 months after onset. Each segment delineated by a blue bar represents one second. Erythrocyte sedimentation rate was.