Papilledema in Patients With Apert, Crouzon, and Pfeiffer Syndrome

Abstract

Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompression but also after vault expansion. Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure.

The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis

“…The incidence of increased ICP differs between different craniosynostosis syndromes, with the highest percentage in patients with Crouzon-Pfeiffer syndrome. 5 In addition, patients with different craniosynostosis syndromes show different OFC curves, and some are regarded as more likely to develop a deflecting OFC growth curve than others. 28 For example, stagnating skull growth is more often seen in patients with Crouzon-Pfeiffer syndrome than in patients with Muenke syndrome.…”

“…5,12,13,15,18,21,24,25,29,30,32 Postoperatively, 35%-43% of patients still develop raised ICP. 12,13,15,18,25,29,30 Factors influencing ICP in these patients include craniocerebral disproportion (a condition in which the brain grows faster than the skull), hydrocephalus, venous hypertension, and obstructive sleep apnea syndrome.…”

Intracranial hypertension after surgical correction for craniosynostosis: a systematic review

“…Addi tional studies that used alternate methods of confirmation of IH were excluded from the analysis but are reviewed in the discussion and included 4 studies using lumbar punc ture as confirmation of IH; 1,6,14,23 1 study using the pres ence of papilledema; 4 and 2 studies used a combination of ICP monitoring, clinical symptoms, and the presence of papilledema 25,28 (Table 2). One additional study that used invasive ICP monitoring was excluded from analysis be cause it did not provide adequate information on the total number of monitored patients.…”

“…4 The importance of postoperative surveillance for IH screening has also resurfaced in recent years. Children with syndromic craniosynostoses are generally monitored closely given their comorbidities, and therefore most ini tial reports of postoperative IH were on these patients.…”

“…Other groups have since confirmed these findings of ele vated ICP, which differ according to the site of the affected suture-8% in metopic, 13% in sagittal, 16% in unicoro nal, and 31% in bicoronal synostosis. 3,4,20,26 There is much less consensus regarding the prevalence of IH after surgical remodeling and the consequences of untreated postsurgical IH. Although isolated reports of elevated ICP following treatment of craniosynostosis ex ist in the literature, the overall frequency of this entity is underappreciated and underrecognized.…”