Menkes disease mimicking non-accidental injury in a Filipino child
Acta Medica Philippina
;
: 73-75, 2011.
Article
in English
| WPRIM
| ID: wpr-631854
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain Diseases
/
Brain Diseases, Metabolic
/
Ceruloplasmin
/
Central Nervous System Diseases
/
Copper
/
Brain Diseases, Metabolic, Inborn
/
Menkes Kinky Hair Syndrome
/
Nervous System Diseases
Limits:
Adult
/
Female
/
Humans
/
Infant
/
Male
Language:
English
Journal:
Acta Medica Philippina
Year:
2011
Type:
Article
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