Background Menkes disease is an X-linked progressive neurodegenerative disorder caused by abnormalities of the ATP7a transporter that result in abnormal copper transportation in the mammalian nervous system. Menkes disease results in neurological symptoms and connective tissue abnormalities.
Objectives Through this case report we aim to present a series of cranial images illustrating the progression of a lytic bone lesion and subsequent infiltration of tortuous arterial vasculature over the course of one year in a preterm neonate with Menkes disease.
Methods Retrospective case review of the management a patient with Menkes disease and a skull fracture over one year.
Results Our patient was born in good condition at 29+5 weeks gestation via forceps assisted vaginal delivery. There was a family history of maternal carriage of Menkes disease with a second degree relative having had the condition which was the reason for testing in this patient. For treatment of his hypocupremia the patient received intramuscular copper histidine injections, however in the first few weeks of his life serum levels were below the normal range.
Cranial ultrasound scans within the first 7 days of life demonstrated a left sided grade IV intraventricular haemorrhage. He was noted to have widely splayed sutures with head circumference on the 25th centile. Neurological examination throughout his neonatal admission was normal.
Over time, he developed a persistent boggy swelling over the left parietal region, an ultrasound probe placed over this region revealed an area of absent parietal bone with visualisation of underlying brain parenchyma. A skull x-ray demonstrated a left parietal skull fracture which was further demonstrated on CT scan. This confirmed a mid-left parietal fracture which extended posteriorly from the left coronal suture with a protruding soft tissue component.
Interestingly, the patient had previously had a cranial MRI performed as part of his diagnosis for Menkes disease. Retrospectively a protrusion of subarachnoid space in the left parietal region was seen which was not appreciated initially. He was transferred to a tertiary hospital for neurosurgical review and subsequently managed conservatively.
Over the course of a year there were neurological and respiratory deterioration secondary to his Menkes disease despite copper histidine injections, necessitating admission to paediatric intensive care. MRI scans performed during this time found an evolution of abnormalities in the left parietal area with diffuse arterial tortuosity and a left parietal pseudomeningocele. The patient passed away during his intensive care admission aged under 1 year.
Conclusions This case illustrated the evolution of a lytic parietal bone lesion with the progression of arterial tortuosity. Recent literature has described cases studies of neonatal skull fracture as a known presentation of Menkes disease. However, with this case study we demonstrate the changes of both a skull lytic lesion in combination with arterial tortuosity as a series of images over time from a single patient. We hope through this case to increase knowledge and awareness in recognising these changes in the context of a patient with Menkes disease.
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