Miguel Chuquilin

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BACKGROUND Serum IgM binding to GM1 ganglioside (GM1) is often associated with chronic acquired motor neuropathies. This study compared the frequency and clinical associations of serum IgM binding to a different antigen, a disulphated heparin disaccharide (NS6S), with results of IgM binding to GM1. METHODS Serums and clinical features were retrospectively(More)
Few sources of information exist regarding cutaneous innervation and how to apply this basic neurologic science to the clinical treatment of itch, as often performed on a daily basis by dermatologists. We address the types of nerve fibers that innervate the skin and their different components and discuss the similarities and differences between itch and(More)
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy. A twenty year-old woman with baseline learning difficulties was admitted with progressive behavioral changes, diplopia, headaches, bladder(More)
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and(More)
We appreciate Dr. Finsterer et al. [1] interest in our case report [2]. They express doubts about the diagnosis of Leigh syndrome (LS). Our patient's diagnosis was based on the presence of a known ATPase 6 gene pathogenic mutation (T9176C), previously described in other LS cases [3–8] , and also in a form of hereditary spastic paraplegia [9] leukodystrophy(More)
Erythromelalgia may be primary or secondary to an underlying medical condition. Association with small fiber neuropathy and axonal large fiber peripheral neuropathy has been described. Erythromelalgia in the setting of acquired demyelinating neuropathy has not been reported. We report a 52-year-old woman with severe erythromelalgia, pain and burning,(More)
Intracranial hypertension and papilloedema are known to develop secondary to cerebral sinus or bilateral jugular vein thrombosis. However, in rare cases, unilateral jugular vein thrombosis may lead to increased intracranial pressure and papilloedema with resultant headache and vision changes. We describe a 45-year-old patient with squamous cell carcinoma of(More)
Merkel cell carcinoma (MCC) is an uncommon but highly malignant neuroendocrine tumor of the skin. MCC can metastasize, but involvement of the central nervous system is rare. Here, we report a case of rapidly progressing metastatic MCC to the clivus and bilateral cavernous sinus in an immunocompromised patient. This case is unique in that it is the first(More)
Neuromyelitis optica causes bilateral optic neuritis and longitudinal extensive transverse myelitis. Although usually sporadic, 3% of cases of neuromyelitis optica are familial. The interval over which attacks continue and the long term prognosis for pediatric-onset neuromyelitis optica are not well defined. We describe two patients with pediatric familial(More)