TY  - CHAP
M1  - Book, Section
TI  - Menkes Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
AB  - Genetic  disorder  of  copper  metabolism  beginning  before  birth.  Copper  accumulates  in  excessive  amounts  in  the  liver  and  is  deficient  in  most  other  tissues  of  the  body.  Structural  changes  occur  in  the  hair,  brain,  bones,  liver,  and  arteries.  Other  clinical  features  include  spontaneous  hypothermia,  severe  developmental  delay,  loss  of  early  development  skills,  and  seizures.  Spontaneous  subdural  hematoma  and/or  rupture  or  thrombosis  of  arteries  in  the  brain  may  occur.  Spastic  dementia  may  eventually  arise.  Osteoporosis  as  a  result  of  abnormal  copper  metabolism  can  result  in  pathologic  fractures.  The  combination  of  subdural  hematoma  and  bone  fractures  may  lead  to  an  incorrect  diagnosis  of  child  abuse.  Emphysema,  bladder  abnormalities,  degeneration  of  the  retina,  and  cysts  of  the  iris  have  been  described.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/20
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58075815
ER  -