An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
Francis
Peter J
PJ
Eye Department, Guys Hospital, London, UK.
Calver
David M
DM
Barnfield
Peter
P
Turner
Charles
C
Dalton
R Neil
RN
Champion
Mike P
MP
D002649:Child Abuse / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006406:Hematoma; D006408:Hematoma, Subdural / Q000175:diagnosis / Q000209:etiology*; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D007035:Hypothermia / Q000209:etiology; D020896:Hypovolemia / Q000209:etiology; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications; D008764:Methylmalonic Acid / Q000652:urine*; D011247:Pregnancy; D047928:Premature Birth; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000209:etiology*; D012894:Sleep Stages; D014805:Vitamin B 12 / Q000378:metabolism*
D008764:Methylmalonic Acid; D014805:Vitamin B 12