Mulvihill-Smith, syndrome
|
Extremely rare. Progeroid syndrome (see progeria) with probable autosomal recessive inheritance .
Clinical appearance:
- low birth weight
- short stature (P3), absence of subcutaneous fat, especially at the level of the face (bird face aspect)
- microcephaly
- multiple pigmented nevi (from the age of one year)
- rapid senescence: diabetes, chronic bronchitis
- immunodeficiency
- progressive loss of hearing and vision
- longer life expectancy than in case of progeria
- risk of developing malignant tumours in young adults
Anesthetic implications:
risk of difficult mask ventilation and intubation; early atheromatosis (ECG and echocardiography); old man appearance but child psychology
References :
- Kuribayashi J, Yamada T,Morisaki H, Takeda J.
Anesthetic management of a patient with Mulvihill-Smith syndrome.
Masui 2007 ; 56 : 835-7 (en japonais)
- Breinis P, Alves FG, Alves CAE, Cintra RG et al.
The eleventh reported case of Mulvihill-Smith syndrome in the literature.
BMC Neurology 2014; 14:4
Updated: December 2018