Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease

Abstract

The patient is a white, male firstborn of a 29-yearold woman. He was born in the 39 th week of gestation (38 + 4) after an unremarkable pregnancy, birth weight was 2 790 g. Due to prolonged labour and the presence of meconium-stained amniotic fluid, Caesarean section was performed. The operative delivery proved to be difficult because the child's head was already deep down in the birth canal. The first examination of the newborn showed hypotonia and compromised spontaneous breathing. The Apgar score was 6, 9 and 9 after 1, 5 and 10 min, respectively. Immediately after birth crepitation of the cranium was noticed in the right occipital region. On palpation a contour disruption in this area accompanied by hematoma was noticed, pointing towards skull fracture. Internal and neurological status were both normal inconspicuous. The patient was admitted to the neonatal intensive care unit (NICU). Computed tomography as well as ultrasound imaging of the skull and brain showed an open skull fracture in the right parietooccipital region with intracerebral bleeding of 15 mm in its maximum diameter ( • ▶ Fig. 1). Following neurosurgical consultation it was decided to refrain from surgical treatment, and antibiotic as well as analgesic therapy were administered. During next days, the patient developed jaundice with bilirubin values up to 19.7 mg/dl, requiring intermittent phototherapy. The patient recovered from his injury quickly, and by the end of the third postnatal week could be discharged with normal internal and neurological status. Also EEG was normal at this time. During next weeks, several developmental assessments were performed. The patient showed a development delay, reduced head control and general muscular hypotonia especially of the trunk. As a consequence, physiotherapy was initiated. At the age of 5 months, the patient developed seizures and was again admitted to the hospital. Now EEG investigation revealed a hypsarrhythmia-like pattern, most pronounced over the right parietooccipital region, however also anomalies over the left cerebral side. Magnetic resonance tomography of the head showed loss of parenchyma in the region of the previous skull fracture. In addition, confluent finger-shaped signal alterations were seen in the left white matter, as well as focal alterations of the basal ganglia on both sides. These results were interpreted as posttraumatic lesions. Antiepileptic therapy with levetiracetam and topiramate was established and periodic clinical and EEG controls were carried out, both pointing towards severely compromised neurological sequelae. At the age of 7 months, the patient developed symptoms of an urinary tract infection. Ultrasound imaging of the urinary tract showed a trabecular urinary bladder and multiple diverticula. To protect the infant from further UTIs, antibiotic prophylaxis with cefaclor was initiated. Nevertheless, the patient suffered from recurrent urinary tract infections during next weeks. At the age of 8 months, circumcision was performed and a suprapupic catheter was implan...

Growing skull fracture at birth: a rare presentation of Menkes disease

“…Although simple newborn skull fracture in association with Menkes disease has been reported,1 2 this is the first case described of complex growing fracture.…”