Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 19-year-old Chinese female presenting mucocutaneous manifestations including facial trichilemmomas, oral papillomatosis, and acral keratosis was diagnosed, according to the criteria proposed by Salem and Steck, as a definite case of Cowden's disease, although no members of her family were affected. The cutaneous reticulohistiocytic granuloma and congenital nystagmus of eyes that occurred in this case were new combinations in the syndrome. To the best of our knowledge, this is the first documented case of Cowden's disease in a Chinese.
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PMID:Cowden's disease: report of the first case in a Chinese. 806 4

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.
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PMID:The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology. 3148 96