Citations

ABSTRACTIntroductionWe used positron emission tomography (PET) to assess dopaminergic and serotonergic terminal density in three subjects carrying a mutation in the DCT1 gene, two clinically affected with Perry syndrome.MethodsAll subjects had brain imaging using 18F‐6‐fluoro‐l‐dopa (FDOPA, dopamine synthesis and storage), (+)‐11C‐dihydrotetrabenazine (DTBZ, vesicular monoamine transporter type 2), and 11C‐raclopride (RAC, dopamine D2/D3 receptors). One subject also underwent PET with 11C‐3‐amino‐4‐(2‐dimethylaminomethyl‐phenylsulfanyl)‐benzonitrile (DASB, serotonin transporter).ResultsFDOPA‐PET and DTBZ‐PET in the affected individuals showed a reduction of striatal tracer uptake. Also, RAC‐PET showed higher uptake in these area. DASB‐PET showed significant uptake changes in left orbitofrontal cortex, bilateral anterior insula, left dorsolateral prefrontal cortex, left orbitofrontal cortex, left posterior cingulate cortex, left caudate, and left ventral striatum.ConclusionsOur data showed evidence of both striatal dopaminergic and widespread cortical/subcortical serotonergic dysfunctions in individuals carrying a mutation in the DCTN1 gene. © 2014 International Parkinson and Movement Disorder Society

We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.