Case Report

Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

Marie-Cécile Nassogne^{1, 2,}, Mark Sharrard¹, Lucie Hertz-Pannier³, Didier Armengaud⁴, Guy Touati¹, Pascale Delonlay-Debeney¹, Michel Zerah⁵, Francis Brunelle³ and Jean-Marie Saudubray¹

(1)	Service de Maladies Métaboliques, Neurologie et Génétique, Hôpital Necker-Enfants Malades, Paris, France
(2)	Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10/1062, 1200 Brussels, Belgium
(3)	Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
(4)	Service de Pédiatrie, Centre Hospitalier, Saint-Germain-en-Laye, France
(5)	Service de Neurochirurgie, Hôpital Necker-Enfants Malades, Paris, France

Abstract

Introduction. 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.

Case report. 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.

Discussion. 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.

Keywords. Brain diseases - Inborn - Metabolic - Intracranial haemorrhage - Traumatic

E-mail: marie-cecile.nassogne@nepe.ucl.ac.be
Phone: +32-2-7645230
Fax: +32-2-7645231

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