Unilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case

Abstract

BACKGROUND

Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting.

OBSERVATIONS

The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms.

LESSONS

Unilateral hemicraniectomy with titanium cranioplasty is a feasible surgical treatment for CED in pediatric patients with medically refractory increased ICP and papilledema.

https://thejns.org/doi/10.3171/CASE24590

Camurati-Engelmann disease (CED), also known as “progressive diaphyseal dysplasia,” is a rare autosomal dominant disorder of bone metabolism characterized by symmetric, fusiform hyperostosis and sclerosis of the long bones and cranium.^{1, 2} It has a classic onset in childhood and is characterized by bone pain, muscle weakness, and gait disturbances due to cortical thickening of the diaphyses of the long bones.¹ It has been linked to a gain-of-function mutation in the TGFB1 gene, which is an osteotrophic factor that enhances the differentiation and proliferation of osteoblasts and the synthesis of bone matrix.³ At least 40% of these patients experience symptoms related to diffuse calvarial vault and skull base thickening, such as hearing loss from osseous compression of the eighth cranial nerve, papilledema due to optic canal stenosis, or increased intracranial pressure (ICP) from decreased intracranial volume.^{4, 5}

Medical management of papilledema from increased ICP in CED includes long-term oral acetazolamide and glucocorticoids.⁶ Given the progressive nature of bone thickening in CED, surgical procedures to reduce ICP have been used, such as ventriculoperitoneal shunting (VPS), optic nerve fenestration or optic canal decompression, posterior fossa decompression, and internal cranial vault expansion.^{7, 8} Here, we present the case of a 5-year-old boy with CED and bilateral papilledema due to increased ICP, who underwent unilateral right hemicraniectomy with titanium cranioplasty, resulting in the complete resolution of papilledema and headaches for over 10 years of follow-up.

History and Examination

A 5-year-old male with a history of CED presented with worsening headaches and bilateral papilledema, with symptoms concerning for progressively increasing ICP. His head and orbit computed tomography (CT) study showed extensive bony overgrowth throughout his calvarial vault (Fig. 1) and facial bones but without ventriculomegaly or optic/jugular foramen stenosis. All of the calvarial sutures were patent. On physical examination, he had bilateral hearing loss due to osseous compression of the eighth cranial nerves but no other focal neurological deficits. He was evaluated by the ophthalmology team and was found to have bilateral optic disc swelling (Fig. 2) and was treated with acetazolamide. His first lumbar opening cerebrospinal fluid (CSF) pressure was 39 cm H₂O. After 3 months of medical therapy, the patient continued to experience persistent headaches, progressive papilledema, and associated reduced visual acuity, with a lumbar CSF opening pressure of 47 cm H₂O.

FIG. 1.

Preoperative axial CT scan obtained when the patient was 5 years of age, demonstrating diffuse calvarial thickening and a markedly reduced volume of intracranial CSF.

FIG. 2.

Preoperative right funduscopic eye examination showing optic disc swelling (upper) and fluorescein leakage (lower) surrounding the disc, demonstrating active papilledema. Findings in the left eye were similar.

Because of progressive headaches, papilledema, and increased ICP, a right hemicraniectomy with titanium plate cranioplasty was utilized to expand his cranial volume.

Operative Procedure

A bicoronal midparietal zigzag incision was selected in case a left hemicraniectomy was needed in the future. After reflecting the scalp, the bone 2 cm from the midline was marked to serve as the medial extension of the right hemicraniectomy, as it was on the nondominant side. Multiple burr holes were placed in the right frontal and parietal areas, and the bone was removed piecemeal with a craniotome. The bone thickness measured 1–2 cm in most areas. A 17-cm × 12-cm titanium plate cranioplasty was attached to the bone with multiple titanium screws, and the scalp was closed.

Postoperative Course and Follow-Up

The patient tolerated the procedure well, without any complications. He was monitored in the hospital for 2 days before being discharged home.

At his 3-month postoperative follow-up visit, the patient denied any headaches, his visual impairment had improved, and his incision was well healed. At 4 months postoperatively, his ophthalmological examination showed complete resolution of the bilateral papilledema. His right visual acuity was 20/25, and his left was 20/20.

At his 10-year follow-up, the patient continued to have no visual changes or headaches. His head CT at that time showed thin bony islands along the outside of the titanium plate but no new intracranial bone formation. The volume of intracranial CSF was demonstrably larger compared to preoperative CT (Fig. 3).

FIG. 3.

Left: Postoperative axial CT scan obtained when the patient was 15 years of age, showing a significant increase in the volume of intracranial CSF. Right: Three-dimensional reconstruction of a CT scan showing the thin formation of bone on the outside of the titanium plate but none on the internal surface.

Informed Consent

The necessary informed consent was obtained in this study.

Discussion

Observations

We present the case of a pediatric patient with CED and medically intractable high ICP who was treated with a unilateral hemicraniectomy and titanium plate cranioplasty. After a 10-year follow-up, this was the only procedure needed to resolve his headaches and papilledema secondary to high ICP. In the literature, there have been reports of different types of surgical decompression to provide symptomatic relief of elevated ICP in patients with CED. One of the most common procedures is internal cranial expansion (ICE), where the patient undergoes craniotomy with thinning of the inner table and cancellous bone to increase the intracranial volume to lower ICP.⁴ Mocco et al.⁸ presented two patients, a 22-year-old male and a 27-year-old female, treated with the ICE procedure and without any symptoms or recurrence at 4.5 and 8 years, respectively, postoperatively. However, other surgically treated patients have experienced bony regrowth and a recurrence of symptoms after the ICE procedure.^{4, 9} Wong et al.⁷ presented the case of a 46-year-old female with CED who was treated with VPS, posterior fossa decompression, and bilateral ICE procedures and who, 20 years postoperatively, experienced a recurrence of high ICP due to excessive reossification of the cranial bones. Because of the extent of the patient’s symptoms, bilateral frontoparietal craniectomies with titanium plate replacement were undertaken, with a resolution of symptoms.

Patients with CED usually become symptomatic in the 2nd or 3rd decade of life. Besides our current case report, we found only one other pediatric patient: a 5-year-old male with CED who developed right progressive papilledema and proptosis with optic canal stenosis.¹⁰ However, his ICP was normal. Resection of the orbital roof and the optic canal was all that was needed for complete symptom resolution.

Lessons

In our illustrative CED case, a 5-year-old child with headaches and papilledema from increased ICP secondary to cranial vault hyperostosis had a complete resolution of symptoms following unilateral hemicraniectomy with titanium plate replacement. At the 10-year follow-up, he had no intracranial bony regrowth at the site of hemicraniectomy or symptoms of elevated ICP. If the symptoms had recurred, the plan was to perform a similar second hemicraniectomy on the left side.

Disclosures

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Author Contributions

Conception and design: McComb, Sader. Acquisition of data: McComb. Analysis and interpretation of data: McComb. Drafting the article: Guillen Arguello. Critically revising the article: all authors. Reviewed submitted version of manuscript: all authors. Approved the final version of the manuscript on behalf of all authors: McComb. Administrative/technical/material support: McComb, Guillen Arguello. Study supervision: McComb.

Correspondence

J. Gordon McComb: Children’s Hospital Los Angeles, CA. gmccomb@chla.usc.edu.