- Department of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan.
Shotaro Ogawa, Department of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan.
DOI:10.25259/SNI_623_2023Copyright: © 2023 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Shotaro Ogawa, Hideki Ogiwara. Cranial distraction osteogenesis for craniosynostosis associated with osteopetrosis: A case report. 13-Oct-2023;14:368
How to cite this URL: Shotaro Ogawa, Hideki Ogiwara. Cranial distraction osteogenesis for craniosynostosis associated with osteopetrosis: A case report. 13-Oct-2023;14:368. Available from: https://surgicalneurologyint.com/surgicalint-articles/12589/
Background: Osteopetrosis is a rare disease characterized by systemic osteosclerosis and hematopoietic disturbances. Childhood-onset cases are often accompanied by hydrocephalus and craniosynostosis; however, there have been no established treatments. We performed cranial distraction in a child with osteopetrosis who presented with craniosynostosis and intracranial hypertension.
Case Description: The patient was a 4-year-1-month-old boy. His pregnancy and birth were normal, but at 4 months of age, he was diagnosed with osteopetrosis based on generalized osteosclerosis and family history. A computed tomography scan of the head revealed early sagittal suture fusion and ventricular enlargement. A ventriculoperitoneal shunt was placed for intracranial hypertension; however, slit ventricle syndrome ensued and pansynostosis developed. To improve uncontrolled high intracranial pressure, cranial distraction was performed for intracranial volume expansion. No perioperative hemorrhagic or infectious complications were observed. After the start of distraction, the intracranial pressure gradually decreased, and clinical findings such as disturbance of consciousness and bradycardia disappeared. Bone regeneration in the defect site was good, and the extension device was removed 6 months after the operation.
Conclusion: For osteopetrosis with poorly controlled intracranial hypertension, cranial distraction was considered to be an effective treatment.
Keywords: Cranial distraction osteogenesis, Craniosynostosis, Intracranial hypertension, Osteopetrosis
Osteopetrosis is a rare disease characterized by systemic osteosclerosis, hematopoietic dysfunction, and fragility. Based on clinical findings, it is classified into early-onset and late-onset forms. The early-onset type develops at birth or in infancy and causes hardening and deformation of the skull, impaired vision and hearing, and impaired mental development. The early-onset type entails a poor prognosis. The late-onset type is found incidentally on X-rays, and central nervous system disorders are rare. In addition, an intermediate type and a disease type accompanied by renal tubular acidosis are reported.[
As for the genetic abnormality, more than half of the children with autosomal recessive infantile osteopetrosis have variants in the TCIRG1 gene.[
The patient was a 4-year-1-month-old boy. He was born at 40 weeks 0 days gestation weighing 3262 g. When he was 4 months old, severe atrophy of bilateral optic nerves was found due to his inability to pursue. The X-ray showed sclerosis of the whole-body bone. He was diagnosed with osteopetrosis because of a family history of his maternal grandmother’s brother dying of osteopetrosis at the age of five. The computed tomography (CT) scan showed early sagittal suture synostosis and ventricular enlargement [
The surgical procedure was performed through the coronal skin incision. In this case, because there was a possibility of bleeding that was difficult to control during the surgery, we started a transfusion of red blood cells and fresh frozen plasma at the beginning of the surgery in preparation for intraoperative bleeding.
The scalp was reflected and the calvarial surface was exposed. A bilateral circumferential parieto-occipital osteotomy was performed. The osteotomy line was decided using neuronavigation. The cortical bone was very hard and thick, while the cancellous bone was relatively thin. The dura was fragile and strongly adhered to the bone. To prevent sinus injury, the osteotomy above and close to the superior sagittal sinus was performed gently using Kerrison rongeur. The osteotomy line was kept rostral to the transverse sinus. Four cranial distractors were fixed to the cranial bone. The sites of the distractors were decided so as not to interfere with the existing shunt and reservoir [
(a-c) Preoperative and (d-f) postoperative computed tomography. The osteotomy line was designed so as not to interfere with existing shunts and reservoirs. Furthermore, the emissary vein was preserved as much as possible. The osteotomy line was kept rostral to the transverse sinus because the adhesion between the bone and the dura mater was particularly strong near the sinus confluence.
No perioperative hemorrhagic complications or infections were observed. Cranial distraction was started on the 6th postoperative day and extended to a total of 25 mm (1 mm/day). The extension of the lateral distractor on the right side was terminated at 9 mm not to interfere with the shunt [
In this report, we performed cranial distraction osteogenesis for a child with osteopetrosis who presented with uncontrolled intracranial hypertension and obtained a favorable outcome.
Surgical treatment for osteopetrosis
In osteopetrosis, the dysfunction of osteoclasts leads to high bone density but susceptibility to fracture.[
Cranial expansion for osteopetrosis
In craniosynostosis associated with osteopetrosis, multiple factors are thought to contribute to intracranial hypertension. The increased thickness of the calvarium and the decrease in the cranial capacity are the causes of increased intracranial pressure.[
Necessity of gradual cranial distraction
Jamjoom et al. reported the case of a 4-year-old boy with osteopetrosis who had a cardiac arrest during one-stage cranial enlargement. They considered hypotension associated with sudden intracranial pressure drop, complication of Chiari malformation, and intraoperative bleeding as causes of cardiac arrest.[
Preservation of emissary veins
In osteopetrosis, venous outflow stenosis is considered to be one of the causes of hydrocephalus and increased intracranial pressure.[
Determination of craniotomy range and surgical technique
In cranial distraction surgery, a large bone flap that includes the caudal side of the torcula is often created to simultaneously decompress the venous sinuses.[
Meticulous detachment using Kerrison rongeur was effective to preserve the dura during the osteotomy and no bleeding from the sinus and postoperative CSF leakage occurred. Considering the fragility of the dura mater, it was considered necessary to delay the start timing of distraction. We delayed the start of distraction to the 6th postoperative day and no CSF leakage due to dural injury was observed throughout the course of distraction.
It is difficult to judge when to perform cranial expansion surgery in the case of osteopetrosis-associated craniosynostosis and hydrocephalus. We usually perform a posterior vault expansion for craniosynostosis before considering drainage techniques such as VP shunt surgery. However, in patients with osteopetrosis, we should decide on the surgical method considering that they have a high risk of bleeding in surgery with bone manipulations. In this case, we performed a VP shunt before cranial expansion against intracranial hypertension that was poorly controlled by ETV and regular puncture drainage. We suggested that considering the risk of cranial distraction surgery, the VP shunt surgery and/or ETV was performed first, and the cranial distraction surgery may better be delayed until high intracranial pressure becomes uncontrollable even with the VP shunt.
We successfully performed cranial distraction osteogenesis for the patient with osteopetrosis associated with hydrocephalus and craniosynostosis. Cranial distraction osteogenesis is considered an effective treatment for uncontrolled intracranial hypertension with osteopetrosis.
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There are no conflicts of interest.
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The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.
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