1.
Acta Medica Philippina
;
: 73-75, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-631854
RESUMO
We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.