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Neuropediatrics 2016; 47(06): 410-411
DOI: 10.1055/s-0036-1593532
Images in Neuropediatrics
Georg Thieme Verlag KG Stuttgart · New York

Clinical Images: A Cloudy Skull—Hypophosphatasia as Reason for Copper-Beaten Skull

Martin Poryo
1   Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany
,
Sascha Meyer
2   Division of Neuropediatrics, Department of Pediatrics and Neonatology, Saarland University Hospital, Homburg/Saar, Germany
,
Regina Eymann
3   Department of Neurosurgery, Saarland University Hospital, Homburg/Saar, Germany
,
Umut Yilmaz
4   Department of Neuroradiology, Saarland University Hospital, Homburg/Saar, Germany
,
Sogand Nemat
5   Department of Conventional and Interventional Radiology, Saarland University Hospital, Homburg/Saar, Germany
,
Tilman Rohrer
6   Division of Pediatric Endocrinology, Department of Pediatrics and Neonatology, Saarland University Hospital, Homburg/Saar, Germany
› Author Affiliations
Further Information

Publication History

01 August 2016

06 September 2016

Publication Date:
25 October 2016 (online)

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Case Report

We report on a 17-month-old boy with a history of infantile hypophosphatasia (HPP) with premature fusion of the sagittal and coronary sutures. He exhibited a significant developmental delay in the first months of life, but neurodevelopment normalized after starting enzyme replacement therapy (ERT) with asfotase alfa at week 11 of life.

Ophthalmological examination demonstrated moderate papilledema. On conventional X-ray, a “cloudy skull” appearance was noted ([Fig. 1a, b]). Ultrasonography and cerebral magnetic resonance imaging revealed widening of the optic sheath and Chiari-I malformation. At the age of 18 months, our patient underwent cranial vault remodeling.

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Fig. 1 Copper-beaten skull and fusion of cranial sutures in a 17-month-old boy (a) anteroposterior view (b) lateral view.

The abnormalities seen on conventional X-ray corresponded to a copper-beaten skull, a phenomenon observed in several medical conditions with elevation of intracranial pressure, premature fusion of the cranial sutures and HPP.[1] The visual appearance of the cloudy pattern is caused by the digital impressions of the cerebral gyri leading to a negative imprinting of the gyral pattern on the cortical surface ([Fig. 2]).

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Fig. 2 Intraoperative osseous cranial specimen demonstrating negative imprinting of the gyral pattern on the cortical surface.

Increased molding of the endocranial vault surface may also be seen in a “honeycomb pattern,” corresponding to primary bone dysplasia. In children with HPP, ERT paired with cranial vault remodeling strategies can yield improved neurological outcomes.[2]

 

  • References

  • 1 Winkelmann H. The “cloudy” skull and skull-deformities in suturesynostoses as an indication for extensive calotte-resection [in German]. Padiatr Grenzgeb 1976; 15 (4) 161-172
    PubMedGoogle Scholar
  • 2 Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW. Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus 2015; 38 (5) E10
    PubMedGoogle Scholar