The entity of parkinsonism and associated lipomatosis

Abstract

The recognition of syndromic associations is important for identifying new disorders. Parkinson disease (PD) is usually a sporadic disorder; however, in approximately 5% of the cases, it can be familial.1 In some genetic forms of PD, the phenotype may closely resemble sporadic PD; however, in others, the syndrome is more complicated and includes neurologic or systemic features that are unusual for sporadic PD. 1We describe a new association of parkinsonism clinically resembling PD with multiple lipomatosis.Methods. The study was approved by the UCLH/ ethics committee (06/N076), and informed consent was obtained. Clinical data and investigations of family 1 are given in the Results (see additional cases on the Neurology ® Web site at Neurology.org).Results. Family 1. The index patient (II-5) is a 58-year-old Indian woman who developed a left-sided akinetic-rigid syndrome and severe depression at age 49 years (figure). She started treatment (8 mg/day ropinirole, 300 mg/day levodopa) at age 52 years, which led to significant improvement of her motor symptoms; depression and anxiety showed mild response to treatment with duloxetine and amitriptyline. One year after treatment, she developed "wearing-off," moderate dyskinesias, and episodes of functional whole-body tremors. Apomorphine injections caused paranoid ideation and delusions of reference and were discontinued. On examination at age 58 years, she had a left more than right hypokinetic-rigid syndrome, with dystonic posturing of the left side (video). She had experienced multiple painless lipomas of the trunk and upper and lower limbs since age 30 years (video). MRI and muscle biopsy results were normal. Skin biopsy of the lipomas revealed benign angiolipomas.The 68-year-old brother of the index case (patient II-2) developed difficulties using his left foot and depression at age 61 years. He was started on levodopa (300 mg/day) with improvement of his motor symptoms. Some months later, ropinirole (up to 8 mg/day) was added, upon which he developed Pisa syndrome and excessive daytime sleepiness. On examination at age 68 years, he had hypomimia, left more than right akinetic-rigid syndrome, Pisa syndrome, and camptocormia. He had multiple lipomas in both upper limbs and trunk since age 40 years.His 43-year-old daughter (patient III-1) developed slowness in her left leg at age 39 years, was diagnosed with PD, and showed excellent response to ropinirole (up to 12 mg/day) but early development of fluctuations. On examination, she had torticollis to the right, asymmetric bilateral bradykinesia and dystonia more on the left upper and lower limbs, depression, and multiple lipomas (video). Formal neuropsychometry showed no cognitive decline. MRI and muscle biopsy had normal results.Genetic studies. Genetic studies in affected members from family 1 (II-2, II-5, and III-1), as well as other patients (supplementary material), included sequencing of LRRK2 (G2019S), SNCA (Ala30Pro and exonic duplications/deletions), VPS35 (Asp620Asn), DCTN1, Parkin, PINK1, and DJ1, common mi...

Lipomatosis in a Developing Communitys

“…There are reported cases of lipomatosis involving localized areas. They include epidural corticosteroid injection site [5], the larynx [6], the pelvic zone [7], Parkinsonism [8], the heart [9], and even the tongue [10].…”

Caracterização clínica e molecular na lipomatose múltipla familial

“…Além dessas condições, pode coexistir em contextos de trombose venosa profunda, doença celíaca e parkinsonismo. Finalmente pode se manifestar secundariamente a efeitos citotóxicos de tratamentos com quimioterápicos (23,(31)(32)(33)(34)(35)(36)(37)(38)(39) 1.8-Diagnóstico…”