Menkes Disease As A Differential Diagnosis Of Child Abuse
Authors:
Juliana Harumi Arita
Eliete Chiconelli Faria
Mirella Maccarini Peruchi
Jaime Lin
Marcelo Rodrigues Masruha
Luiz Celso Pereira Vilanova
Received 20 October 2008, received in final form 13 January 2009. Accepted 3 April 2009.
According to a research project from North Carolina published in 2003, approximately 1,300 children experience severe or fatal head trauma as a result of abuse each year, and inflicted head injury is the most common cause of traumatic death in infancy1-3. The shaken baby syndrome as a form of child victimization was first reported in 1971 and describes a constellation of symptoms and signs that results from the violent shaking of a young child commonly producing subdural hematomas4,5. Infants presenting with impairment of consciousness, seizures, head circumference enlargement and subdural hematomas, along with no obvious etiology always prompt the pediatrician to make this possible diagnosis5,6. However, some rare metabolic diseases can produce nontraumatic subdural hematomas mimicking shaken baby syndrome.
For this reason, the pediatrician plays an important role on recognition of such pathologies not only to avoid a mistaken diagnosis of child abuse, but also to provide the adequate management. We report a case of a child with Menkes disease whose clinical course, initially led to the diagnosis of shaken baby syndrome in the emergency setting.
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