Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.
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PMID:Mulvihill-Smith syndrome: case report and review. 781 40

We report on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.
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PMID:Premature aging and immunodeficiency: Mulvihill-Smith syndrome? 845 31

Mulvihill-Smith syndrome is a rare disease that belongs to progeroid syndromes. This syndrome is characterized by a senile face with an underdeveloped lower half, short stature, microcephaly, multiple pigmented nevi, immunodeficiency, hearing loss, and high-pitched voice. We report anesthetic management of a 27-year-old woman, 138 cm and 27 kg, with this syndrome, who underwent removal of mandibular cyst, partial resection of tongue and keratoplasty. Anesthesia was induced with fentanyl, propofol and vecuronium. There was difficulty in maintaining adequate ventilation with a face mask for children, and we used a mask for infants. Her Cormack grade was rated 3 but her trachea could be intubated assisted by BURP procedure. Anesthesia was maintained with sevoflurane, nitrous oxide and oxygen supplemented with fentanyl. The changes of blood pressure during anesthesia were extraordinary, suggesting the presence of advanced arteriosclerosis. The postoperative course was uneventful, with stable hemodynamics, and the patient was discharged from the hospital on 9th postoperative day. Anesthesia for Mulvihill-Smith syndrome should be performed with caution for the potential risk of difficult airway and unstable hemodynamics.
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PMID:[Anesthetic management of a patient with Mulvihill-Smith syndrome]. 1763 48