Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.
BACKGROUND
Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome.


METHODS
We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.


CONCLUSIONS
This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants.
Nassogne
Marie-Cécile
MC
Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10/1062, 1200 Brussels, Belgium. marie-cecile.nassogne@nepe.ucl.ac.be
Sharrard
Mark
M
Hertz-Pannier
Lucie
L
Armengaud
Didier
D
Touati
Guy
G
Delonlay-Debeney
Pascale
P
Zerah
Michel
M
Brunelle
Francis
F
Saudubray
Jean-Marie
JM
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006197:Hair / Q000002:abnormalities; D006408:Hematoma, Subdural / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography; D038642:Shaken Baby Syndrome / Q000175:diagnosis*; D015898:Tomography Scanners, X-Ray Computed