Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

Abstract

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.

Neuroimaging Changes in Menkes Disease, Part 2

“…As repeatedly addressed in the literature, their detection at first MR imaging might raise considerable problems in the differential diagnosis with head trauma and, above all, nonaccidental head trauma. 13,[15][16][17][18] A child abuse misdiagnosis might be favored by the increased susceptibility to spontaneous fractures due to osteoporosis in MD and by the presence of supernumerary wormian bones that might mimic cranial vault fractures (On-line Fig 4). The presence of suggestive clinical (eg, "kinky hair") or imaging features (eg, increased intracranial artery tortuosity) and specific laboratory findings (low serum copper and ceruloplasmin levels) should aid in addressing the correct diagnosis.…”

Menkes disease as a differential diagnosis of child abuse

“…In several aspects, this case could be easily misinterpreted as child abuse. Poor general condition, hypotonia, macrocephaly and especially seizures in association with subdural hematomas and metaphyseal bone changes may result in a false diagnosis of battered child 6 . Other symptoms include lethargy, irritability, increased or decreased tone and impaired consciousness that are reported in 40 to 70 percent of patients 3 .…”

“…Menkes disease was first described in 1962 as an Xlinked recessive neurodegenerative disorder 6 . The incidence of the disease is around one case for every 100,000 to 250,000 births 7 .…”

“…The abnormal gene causes a failure of copper absorption with subsequent copper maldistribution and relative deficiency in certain tissues, especially serum, liver and brain. The characteristic clinical features are explained by the decrease in cuproenzyme activities (dopamine, β-hydroxylase, cytochrome-c oxidase, lysyl oxidase and sulfhydryl oxidase) 6,8 . In several aspects, this case could be easily misinterpreted as child abuse.…”

“…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 hematomas 4,5 . 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 diagnosis 5,6 . However, some rare metabolic diseases can produce nontraumatic subdural hematomas mimicking shaken baby syndrome.…”