Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Langerhans cell histiocytosis (LCH) is a multisystemic disease, which may present with neurological involvement. We report the case of a 20-month-old girl with initial liver and skin involvement. Initial symptoms were recurrent episodes of trunk dystonia, lasting approximately 2 months prior to the diagnosis of LCH. No brain MRI abnormality was demonstrated at initial work-up and over 7 years of follow-up, except for a postpituitary involvement noted after 3 years of follow-up. These episodes of dystonia subsided during the first week of specific LCH chemotherapy (vinblastine and steroid), suggesting that they may have resulted from hepatalgia related to the histiocytic infiltration of the liver.
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PMID:[Inaugural trunk dystonia revealing Langerhans cell histiocytosis]. 1942 24

The authors report a case of bilateral globus pallidus internus (GPi) stimulation for treatment of medically intractable isolated lower limb dystonia. The 14-year-old girl developed dystonic movements in her left lower limb. At the age of 17, the patient was handicapped by dystonic movements in her lower limbs, and became wheelchair-bound. Pharmacological therapy and botulinum toxin injection resulted in transient and modest benefit. Moreover, the patient was diagnosed with histologically proven coeliac disease and Langerhans cell histiocytosis. Genetic testing revealed the presence of DYT-1 mutation. The 17-year-old girl underwent bilateral implantation of deep brain stimulation leads. Bilateral GPi stimulation resulted in remarkable improvement of phasic dystonic movements, and dystonic posture of lower limbs. Over 2 years postoperative follow-up, the patient is able to walk independently. Bilateral GPi stimulation appears to be an effective treatment modality for isolated lower limb dystonia.
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PMID:Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease. 2212 49