[Optic canal stenosis in Crouzon syndrome: a case report and literature review]. / Stenoz zritel'nykh kanalov pri sindrome Kruzona: klinicheskii sluchai i obzor literatury.

BACKGROUND: Incidence of Crouzon syndrome is 1 per 25.000-31.000 newborns. This syndrome is extremely rarely accompanied by optic canal stenosis. OBJECTIVE: To present a patient with Crouzon syndrome and optic canal stenosis, to discuss the management of such patients considering own and literature data. MATERIAL AND METHODS: A 6-year-old boy presented with Crouzon syndrome (verified by molecular genetic research, i.e. FGFR2 gene mutation). The patient underwent 3 surgeries for craniosynostosis and hydrocephalus. Nevertheless, visual acuity progressively decreased despite patent ventriculoperitoneal shunt. Examination revealed severe decrease in visual functions with optic disc congestion under secondary atrophy. MRI data on subarachnoid CSF accumulation over both optic nerves potentially indicated optic canal stenosis. This assumption was confirmed by 3D CT. RESULTS: The patient underwent decompression of both optic canals with subsequent improvement of visual functions. CONCLUSION: Vision decrease following Crouzon syndrome may be due to optic canal stenosis. Decompression may be effective, even in long-term course of disease, and improve visual functions.

An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

The foramen magnum in scaphocephaly.

PURPOSE: The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its morphology and morphometry in scaphocephaly, which is the most common of cranial deformities resulting from premature fusion of cranial sutures. METHODS: We assessed the morphology and morphometry of FM using preoperative thin-cut CT scans of 107 children with non-syndromic sagittal craniosynostosis aged 1-12 months (mean age 5.38 months). A series of sagittal and transverse dimensions were taken and the FM area was calculated in each case. Obtained data were compared to the age-matched control group of 101 normocephalic children. RESULTS: Dolichotrematous type of FM was dominant in the scaphocephaly group and observed in 63/107 cases (58.9%). The mean FM area in the scaphocephaly group was 519.64 mm2 and was significantly smaller compared to the control group (p = 0.0011). The transverse diameter and anterior sagittal diameter were also significantly smaller (p = 0.0112 and p = 0.0003, respectively). CONCLUSION: The area of FM in scaphocephaly is smaller compared to normal individuals. This is associated with a significant reduction of the width of FM in children with sagittal craniosynostosis. FM in scaphocephaly is larger than in other reported series of children with brachycephaly or Crouzon syndrome.

Crouzon's Syndrome with a Dominant Sinus Pericranii Draining Transverse Sinus: Report of a Rare Association and Review of Literature.

INTRODUCTION: Crouzon's syndrome and sinus pericranii (SP) are rare entities. Only few cases having both the features are reported. SP most commonly drains in relation to superior sagittal sinus and their communication to major posterior dural sinuses is rare. CASE REPORT: We report a rare case of Crouzon's syndrome with SP at a suboccipital location with termination of left transverse sinus into the SP draining further through the extracranial suboccipital and extravertebral cervical venous plexi into external jugular veins. Distal transverse sinus and sigmoid sinus on the left side were absent. CONCLUSION: Crouzon's syndrome with SP is an extremely rare entity. SP with communication to major posterior dural venous sinuses is also rare and mostly associated with multi-suture craniosynostosis. Management depends on the volume of venous blood they are draining. Most of them are dominant type and their occlusion is not feasible. Preoperative diagnosis of a dominant SP is essential for proper surgical planning as it needs to be preserved mandatorily to prevent cerebral venous infarction.

An Elderly Patient With Crouzon Syndrome Treated With Monobloc Distraction.

Monobloc advancement by distraction osteogenesis is the treatment of choice in patients with syndromic craniosynostosis. This procedure is usually performed at 18 to 24 months/5 to 10 years of age. Herein, we present the case of a male patient with Crouzon syndrome who underwent monobloc advancement at the age of 62 years. Although the patient lived a normal life (employed, married, and being a father of a daughter), he visited our hospital for surgical improvement in facial esthetics. The patient underwent monobloc advancement by distraction osteogenesis. He was satisfied with the postoperative esthetic improvement and did not experience any major complications. This case highlights the fact that patients with syndromic craniosynostosis desire esthetic improvement and suggests that multidisciplinary treatment involving both the neuro and plastic surgeons is important in such cases.

Comprehensive management of Crouzon syndrome: A case report with three-year follow-up.

Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. The clinical presentation of this congenital deformity depends on the pattern and timing of sutural fusion. The present report describes the features and management of this syndrome in an 18-year-old woman. The patient presented with a hypoplastic maxilla, deficient midface, exorbitism due to shallow orbits, severe crowding and bilateral crossbite. A multidisciplinary approach involving orthodontics and surgical intervention with distraction osteogenesis brought about marked improvement in the facial profile, occlusion and upper airway. The aesthetics and function were greatly enhanced, and the results were found to be stable at the end of three years.

Successful management of anesthesia complications in a child with Crouzon syndrome.

Crouzon syndrome (CS) is a rare autosomal dominant inherited disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature fusion of the coronal and sagittal sutures of the skull, resulting in clinical manifestations of midfacial hypoplasia, shallow orbit, maxillary dysplasia, and occasional upper respiratory obstruction. This article presents the case of a child aged 2 years and 7 months with CS scheduled for bilateral tonsillectomy and adenoidectomy. The patient had a difficult procedure of extubation and was reintubated and the tracheal intubation was removed 2 days after surgery. The CS is a rare condition with physical characteristics that can result in difficult airway manipulation. It is important for anesthesiologists to recognize and avoid potential airway complications in the management of such patients through detailed preoperative evaluation and careful observation after surgery to reduce perioperative risks.

Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report.

BACKGROUND: Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. Herein, we report the genetic abnormalities detected in a Chinese family with autosomal dominant CS, combined with luxation of the eyeball. This luxation was a consequence of the trauma to the shallow orbits. CASE PRESENTATION: The proband was a 4-year-old boy. He accidentally fell, following which luxation of the bulbus oculi occurred immediately. Computed tomography and magnetic resonance imaging clearly revealed ocular proptosis. Upon physical examination, the proband, his father, and grandfather had ocular proptosis, shallow orbits, and mid-face hypoplasia. However, their hands and feet were clinically normal. Genomic DNA was extracted from the peripheral blood through a polymerase chain reaction performed for the target sequence. Genetic assessments revealed a heterozygous missense mutation (c.1012G > C, p.G338R) in exon 10 of the human FGFR2, cosegregated with the disease phenotype in this family. These findings confirmed the diagnosis of CS. DISCUSSION: CS is usually caused by FGFR2 mutations. While there are a few reports of luxation of the bulbus oculi in Chinese families with CS, the ocular proptosis, shallow orbits, combined with luxation of eyeball after trauma observed in this patient were particularly interesting. Our findings enhance the current knowledge of traumatic luxation concomitant with CS.

Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis.

PURPOSE: Cranial lacunae (foci of attenuated calvarial bone) are CT equivalents of "copper beating" seen on plain skull radiographs in children with craniosynostosis. The qualitative presence of copper beating has not been found to be useful for the diagnosis of intracranial hypertension (IH) in these patients. 3D morphometric analysis (3DMA) allows a more systematic and quantitative assessment of calvarial attenuation. We used 3DMA to examine the relationship between cranial lacunae and IH in children with Crouzon and Apert syndromic craniosynostosis. METHODS: Patients were divided into IH and non-IH groups defined on an intention-to-treat basis. Pre-operative CT scans were converted into 3D skull models and processed to quantify lacunae as a percentage of calvarium surface area (LCP). This was done on individual bone and whole skull basis. RESULTS: Eighteen consecutive children with Crouzon's syndrome and 17 with Apert syndrome were identified. Median age at CT scan was 135 days (range 6-1778). Of the 35 children, 21 required surgery for IH at median age of 364 days (range 38-1710). Of these 21 children, 14 had lacunae with mean LCP of 3% (0-28%). Of the 14 non-IH children, 8 had lacunae with mean LCP of 2% (0-8%). LCP was not significantly different between IH and non-IH groups. Parietal bones were most likely to show lacunae (IH 14/21, non-IH 9/14), followed by occipital (IH 8/21, non-IH 3/14), and frontal (IH 6/21, non-IH 2/14). CONCLUSION: Results suggest that cranial lacunae, measured using quantitative 3DMA, do not correlate with IH, in agreement with evidence from qualitative plain skull radiograph studies.

Correlation between Papilledema and Intracranial Hypertension in Crouzon Syndrome: A Case Report and Review of the Literature.

Crouzon syndrome represents the most common syndromic craniosynostosis. Ocular complications are frequent, including papilledema and optic atrophy, often related to increased intracranial pressure (ICP). However, there is a poor correlation between ICP normalization and resolution of papilledema. We describe the case of a 6-month-old infant who presented with typical phenotypic features of Crouzon syndrome. Pre- and postoperative ICP monitoring was used. Papilledema persisted despite ICP improvement after decompressive craniectomy. Possible causes of papilledema in this syndromic craniosynostosis are discussed in light of the existing literature.

Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis.

Le Fort II and III procedures have generally been performed for syndromic craniosynostosis with midfacial hypoplasia and skeletal class III malocclusion. However, some patients have midfacial hypoplasia without malocclusion. Perinasal osteotomy was performed with distraction osteogenesis to move the midface forward in 2 patients (a 17-year old female patient with Crouzon-like disease and a 15-year-old female patient with Antely-Bixler syndrome) with mild midface hypoplasia without malocclusion. The success of the procedure was assured by 3 features: the intermaxillary sutures were fixed by a mini metal plate to prevent separation during distraction; the distraction wires were fixed through the bone of the piriform aperture with the mini metal plates to prevent the wires from coming off; and the osteotomy line was designed in front of the palatomaxillary suture to avoid suture damage. These were expected to secure the procedure. Perinasal osteotomy with distraction osteogenesis is considered one of the recommended procedures for mild midfacial hypoplasia as seen in mild syndromic craniosynostosis without malocclusion.

Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome.

Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. The authors present a patient with CS who underwent posterior cranial vault reconstruction with internal distraction after multiple episodes of headache and papilledema. The patient was unaware of any loss of color vision before the surgery; however, he noted an improvement in his color vision after the surgery. Color vision deficits may be an early sign of intracranial hypertension and finding these deficits using noninvasive testing methods may be an indication for early intervention.

Prevention of recurrence post leptomeningeal cyst repair.

Leptomeningeal cysts, which are cystic collections filled with cerebrospinal fluid, are rare complications following pediatric head trauma and surgical correction of craniosynostosis. These cysts develop due to cerebrospinal fluid pulsations and brain growth that cause expansion of the dural tears. Although primary repair of the dural defect is the definitive treatment, the risk of cyst recurrence remains. Factors that increase this risk include syndromic craniosynostosis, hydrocephalus, increased intracranial pressure, and inadequate duraplasty/cranioplasty. Here, we report the successful treatment of a child with a complex leptomeningeal cyst on one hemisphere, Crouzon syndrome, and hydrocephalus who showed no cyst recurrence over 2 years of follow-up. We have also reviewed the literature for predictors of post-repair cyst recurrence and preventive surgical techniques in patients with high risk of recurrence.

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

Distal arthrogryposis (DA) is a feature in genetically and clinically heterogeneous groups of disorders. Mostly myopathic and neurogenic defects have been described, but many patients remain without genetic diagnosis. We are elaborating on the clinical presentation of neonatal cases with DA who carry novel mutations in the nonselective sodium leak channel (NALCN). Two patients reported herein were remarkable for central hypertonicity in addition to DA. By trio-whole exome sequencing, two undescribed de novo mutations in NALCN were revealed. Both mutations (p.F317C and p.V595F) are located on pore-forming segments of NALCN. Dominant NALCN mutations in the pore-forming segments have been identified in similar patients, whereas recessive mutations outside the pore-forming segments result in different phenotypes. Our findings with central hypertonia broaden the phenotypic spectrum of de novo mutations in the pore-forming segments of NALCN. Recent findings of successful acetazolamide treatment in patients with channelopathies might point to potential therapies based on the ion channel similarities and the location of the mutation.

Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients.

PURPOSE: Pediatric patients with Crouzon syndrome have great possibilities of suffering from obstructive sleep apnea (OSA), which is mainly due to midfacial hypoplasia and facial deformities. For most patients, a multidisciplinary and sequential treatment plan is necessary to make for Crouzon syndrome often has different phenotypes of different severity in OSA and facial deformities. Typical patients were selected in this paper to illustrate the necessity of individualized therapy for treating OSA. METHODS: In this paper, we have introduced four Crouzon syndrome children of different severity in suffering from OSA and maxillofacial deformities. Detailed information was given including clinical manifestations, radiological findings, and polysomnography detections. Based on the above findings, different but effective treatment options for these children's OSA problems were adopted, either by surgeries including distraction osteogenesis and craniomaxillofacial surgeries with or without tonsillectomy or by noninvasive continuous positive airway pressure (CPAP) therapy. RESULTS: Follow-up studies for more than 1 year showed problems of OSA and nocturnal hypoxia of those four patients were all alleviated greatly, as well as maxillofacial deformities. Combined with pre-operative and post-operative orthodontics, one patient also got optimal results in better facial profile and dental occlusion. CONCLUSION: Thus, based on adequate clinical evaluations and patients' conditions including age, disease severity, and esthetic considerations, individualized therapy should be made and performed carefully to obtain optimized results in treating OSA for pediatric Crouzon syndrome patients.

Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.

The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.

A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges.

UNLABELLED: Patients with Freeman-Sheldon Syndrome (FSS) often need multiple surgical procedures. We present a case of FSS and discuss the anesthetic challenges associated with the case. CASE PRESENTATION: A 10-week-old female with FSS presented for elective Nissen fundoplication and gastrostomy tube insertion. She had a history of difficult intubation at birth. General anesthesia with inhalational anesthetic and spontaneous respirations technique was used. Fiber optic bronchoscope (FOB)-assisted nasal intubation was successful after failed attempts with a Miller blade, GlideScope, and intubation through a laryngeal mask airway (LMA). She did not exhibit any signs of malignant hyperthermia (MH) during or immediately after the procedure. DISCUSSION: Challenges to the anesthesiologist in a case with FSS include establishing IV access, intubating the trachea, risk of MH and MH-like symptoms, and postoperative pulmonary complications. Proper multidisciplinary preoperative planning is essential for optimum care of these patients, preferably in a tertiary care center.

Upper Airway Length is Predictive of Obstructive Sleep Apnea in Syndromic Craniosynostosis.

PURPOSE: Midfacial hypoplasia is a characteristic feature of the syndromic craniosynostoses and predisposes these patients to developing obstructive sleep apnea (OSA). The purpose of this study was to identify anatomic factors associated with airway obstruction in patients with syndromic craniosynostoses. MATERIALS AND METHODS: This was a retrospective cohort study. The authors enrolled a study sample composed of patients with syndromic craniosynostoses. The predictor variables were age, gender, body mass index (BMI), syndromic diagnosis, and parameters of upper airway length and size measured on lateral cephalograms. To control for age, upper airway length was corrected for differences in patient height. The outcome variable was OSA status (present or absent). Descriptive, bivariate, and regression statistics were computed. For all analyses, a P value less than or equal to .05 was considered statistically significant. RESULTS: The sample was composed of 50 patients with a mean age of 10.3 ± 0.6 years, 50% were boys, and 24 (48%) had OSA. Patients with and without OSA did not differ statistically in age, gender, BMI, or syndromic diagnosis. Those with OSA had increased upper airway length (P = .016), decreased posterior airway space (P = .001), and more severe midfacial retrusion (P = .022) compared to patients without OSA. After adjusting for covariates, the odds ratio for OSA was 32.9 in patients with an upper airway longer than 45.3 mm per meter of height (P = .018), and for every 1-mm decrease in posterior airway space, the risk of OSA increased by 30% (P = .022). CONCLUSIONS: Patients with syndromic craniosynostosis and OSA have a longer upper airway, smaller posterior airway space, and more severe midfacial retrusion than those without OSA.