Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome)
نویسندگان
چکیده
منابع مشابه
Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome).
We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of th...
متن کاملMulvihill-Smith syndrome: case report and review.
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a prog...
متن کاملAgrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China
RATIONALE Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. PATIENT CONCERNS A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system ...
متن کاملThe eleventh reported case of Mulvihill-Smith syndrome in the literature
BACKGROUND The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitali...
متن کاملA recognisable short stature syndrome with premature aging and pigmented naevi.
We report the progress up to the age of seven years of a small for dates baby whose face and neck are strikingly devoid of subcutaneous tissue and who has, in addition, multiple pigmented naevi.
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ژورنال
عنوان ژورنال: Journal of Sleep Research
سال: 2005
ISSN: 0962-1105,1365-2869
DOI: 10.1111/j.1365-2869.2005.00465.x