Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.

PURPOSE: Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO. METHODS: A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients. RESULTS: The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement. CONCLUSIONS: This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.

Anatomy of the posterior Fossa: a comprehensive description for pediatric brain tumors.

Posterior fossa tumors are the most common pediatric brain tumors, and present unique challenges in terms of their location and surgical management. The posterior fossa comprehends complex anatomy and represents the smallest and deepest of the three cranial base fossae. An in-depth understanding of posterior fossa anatomy is crucial when it comes to the surgical resection of pediatric brain tumors. Mastering the knowledge of posterior fossa anatomy helps the neurosurgeon in achieving a maximal and safe volumetric resection, that impacts in both overall and progression free survival. With the advancements in microsurgery, the telovelar approach has emerged as the workhorse technique for the resection of posterior fossa tumors in pediatric patients. This approach involves meticulously dissecting of the natural clefts present in the cerebellomedullary fissure, making a comprehensive understanding of the underlying anatomy key for its success.

Performance of intraoperative neurocognitive tests during awake surgery for patients with diffuse low-grade glioma.

Despite great advancements and the diffusion of awake surgery for brain tumors, the literature shows that the tests applied during the procedure are heterogeneous and non-standardized. This prospective, observational, descriptive study collected data on intraoperative brain mapping and the performance of multiple neurocognitive tests in 51 awake surgeries for diffuse low-grade glioma. Frequency of use and rate of intraoperative findings of different neurocognitive tests were analyzed. Patients mean age at the time of surgery was 35.1 (20-57) years. We performed 26 (51.0%) surgeries on the left hemisphere (LH) and 25 (49.0%) on the right hemisphere (RH). Significant differences were observed between the total number of functional findings (cortical and subcortical) identified in the LH and RH (p = 0.004). In subcortical findings alone, the differences remained significant (p = 0.0004). The RH subcortical region showed the lowest number of intraoperative findings, and this was correlated with functional outcome: Karnofsky performance scale at five days (p = 0.022), three months (p = 0.002) and one year (p = 0.002) post-surgery. On average, more tests were used to map the RH, with a lower frequency of both cortical and subcortical functional findings. Even though subcortical findings were less frequent than cortical findings, they were crucial to defining the resection margins. Based on the intraoperative findings, frequency of use, and rate of findings per use of the tests analyzed, the most relevant tests for each hemisphere for awake brain mapping were identified.

Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.

Focal cortical dysplasia is a highly epileptogenic cortical malformation with few treatment options. Here, we generated human cortical organoids from patients with focal cortical dysplasia type II. Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, and neuronal network hyperexcitability. Furthermore, we observed alterations in the adherens junctions zonula occludens-1 and partitioning defective 3, reduced polarization of the actin cytoskeleton, and fewer synaptic puncta. Focal cortical dysplasia cortical organoids showed downregulation of the small GTPase RHOA, a finding that was confirmed in brain tissue resected from these patients. Functionally, both spontaneous and optogenetically-evoked electrical activity revealed hyperexcitability and enhanced network connectivity in focal cortical dysplasia organoids. Taken together, our findings suggest a ventricular zone instability in tissue cohesion of neuroepithelial cells, leading to a maturational arrest of progenitors or newborn neurons, which may predispose to cellular and functional immaturity and compromise the formation of neural networks in focal cortical dysplasia.

Posterior fossa tumors in children: current insights.

While in adults most intracranial tumors develop around the cerebral hemispheres, 45 to 60% of pediatric lesions are found in the posterior fossa, although this anatomical region represents only 10% of the intracranial volume. The latest edition of the WHO classification for CNS tumors presented some fundamental paradigm shifts that particularly affected the classification of pediatric tumors, also influencing those that affect posterior fossa. Molecular biomarkers play an important role in the diagnosis, prognosis, and treatment of childhood posterior fossa tumors and can be used to predict patient outcomes and response to treatment and monitor its effectiveness. Although genetic studies have identified several posterior fossa tumor types, differing in terms of their location, cell of origin, genetic mechanisms, and clinical behavior, recent management strategies still depend on uniform approaches, mainly based on the extent of resection. However, significant progress has been made in guiding therapy decisions with biological or molecular stratification criteria and utilizing molecularly targeted treatments that address specific tumor biological characteristics. The primary focus of this review is on the latest advances in the diagnosis and treatment of common subtypes of posterior fossa tumors in children, as well as potential therapeutic approaches in the future.   Conclusion: Molecular biomarkers play a central role, not only in the diagnosis and prognosis of posterior fossa tumors in children but also in customizing treatment plans. They anticipate patient outcomes, measure treatment responses, and assess therapeutic effectiveness. Advances in neuroimaging and treatment have significantly enhanced outcomes for children with these tumors. What is Known: • Central nervous system tumors are the most common solid neoplasms in children and adolescents, with approximately 45 to 60% of them located in the posterior fossa. • Multimodal approaches that include neurosurgery, radiation therapy, and chemotherapy are typically used to manage childhood posterior fossa tumors What is New: • Notable progress has been achieved in the diagnosis, categorization and management of posterior fossa tumors in children, leading to improvement in survival and quality of life.

Apert Syndrome: Selection Rationale for Midface Advancement Technique.

Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection. The purpose of this review article is to present and discuss our rationale for midface advancement technique selection based upon the most common craniofacial characteristics presented by Apert syndrome patients. The present article also provides a grading system that stratifies as major, moderate, and mild, the effect of each midface advancement technique on the different types of Apert syndrome facial features. Surgeons should take into consideration the maximum effect and benefit of each craniofacial osteotomy and how these procedures will alter the craniofacial skeleton. By understanding the long-term effect of each osteotomy on the most common craniofacial characteristics of Apert syndrome patients, craniofacial plastic surgeons and neurosurgeons will be able to customize the surgical procedures they perform in order to achieve the best possible outcomes.

Growing skull fracture in a child with Ehlers-Danlos syndrome: case report and literature review.

INTRODUCTION: Growing skull fracture (GSF) is a rare complication of head trauma in the pediatric population, commonly observed in children younger than 3 years. DISCUSSION: In this report, the authors describe a case of a 3-year-old male child, with clinical features of Ehlers-Danlos syndrome (EDS), who developed a GSF in frontal bone after a crib fall, treated with duraplasty and cranioplasty with autologous craft. Here, pertinent literature was reviewed with an emphasis on surgical techniques, and correlation with the mentioned syndrome. CONCLUSION: This is the first case of GSF in association with EDS in the literature. The relevance of the case described concerns the rarity of the condition itself, the atypical presentation, and the intraoperative findings, which showed the important fragility of the dura mater, probably due to EDS. Therefore, this syndrome, besides having influenced the pathogenesis, was also a challenging factor in the surgical treatment.

Interferon-beta induces major histocompatibility complex of class I (MHC-I) expression and a proinflammatory phenotype in cultivated human astrocytes.

Major histocompatibility complex class I (MHC-I) has been implicated in several types of neuroplasticity phenomena. Interferon beta-1b (IFN-ß) increases MHC-I expression by motoneurons after sciatic nerve crush in mice, improving axonal growth and functional recovery. Additionally, IFN-ß induces glial hypertrophy associated with upregulation of glial fibrillary acidic protein (GFAP) and MHC-I in murine astrocytes in vitro. As knowledge about MHC-I and its role in synaptic plasticity in human astrocytes (HAs) is scarce, we investigated these aspects in mature HAs obtained from the neocortex of patients undergoing surgery due to hippocampal sclerosis. Cells were exposed to media in the absence (0 IU/ml) or presence of IFN-ß for 5 days (500 IU/ml). Beta-2 microglobulin (ß2m), a component of the MHC-I, GFAP and vimentin proteins, was quantified by flow cytometry (FC) and increased by 100%, 60% and 46%, respectively, after IFN-ß exposure. We also performed qRT-PCR gene expression analyses for ß2m, GFAP, vimentin, and pro- and anti-inflammatory cytokines. Our data showed that IFN-ß-treated astrocytes displayed ß2m and GFAP gene upregulation. Additionally, they presented a proinflammatory profile with increase in the IL-6 and IL-1ß genes and a tendency to upregulate TNF-α. Moreover, we evaluated the effect of HAs conditioned medium (CM) on the formation/maintenance of neurites/synapses by the PC12 lineage. Synaptophysin protein expression was quantified by FC. The CM of IFN-ß-activated astrocytes was not harmful to PC12 neurites, and there was no change in synaptophysin protein expression. Therefore, IFN-ß activated HAs by increasing GFAP, vimentin and MHC-I protein expression. Like MHC-I modulation and astrocyte activation may be protective after peripheral nerve damage and in some neurodegenerative conditions, this study opens perspectives on the pathophysiological roles of astroglial MHC-I in the human CNS.

Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.

BACKGROUND: The objective of this study is to report the outcomes of a modified comprehensive Apert syndrome surgical protocol in which fat injection was performed during early infancy concurrent with postposterior vault distraction osteogenesis (PVDO) distractor removal. METHODS: A retrospective study was performed on 40 consecutive young patients with Apert syndrome who underwent PVDO and subsequent distractor removal between 2012 and 2022. Of these 40 patients, 12 patients underwent facial fat injection concurrent with distractor removal to treat residual supraorbital bar recession as part of a modified comprehensive Apert syndrome surgical protocol. Preoperative and postoperative severity of recession and irregularity was graded from 1 to 3, with 1 being less severe and 3 being the most severe. Recession severity was correlated with the number and type of suture fusion. The complication rate was stratified via a Clavien-Dindo scale. RESULTS: The average patient age was 14.3±5 months, with 5 males (41.6%) and 7 females (48.3%). The average hospital stay was 1.08 days. The average volume of free fat graft injection was 8.29±5 mL. According to the Likert scale, forehead morphology improved in 91.67% of the patients. Complete resolution of supraorbital bar recession was achieved in seven patients (58.33%), all of whom presenting a single suture synostosis. One patient with a cloverleaf skull presented a type IIIB complication. CONCLUSIONS: Facial fat grafting markedly reduces forehead asymmetry and improves forehead contour in Apert syndrome patients following PVDO. Total resolution of forehead recession directly correlated with a single suture fusion.

Peritoneal metastasis of a brainstem anaplastic ganglioglioma in a 2-year-old boy: case report and literature review.

Anaplastic gangliogliomas (AGG) are rare tumors of the central nervous system (CNS) that commonly affect children and young adults, with an unusual infratentorial presentation, which is related to hydrocephalus and a worse prognosis. We report a case of a brainstem AGG in a 2-year-old boy who underwent a ventriculoperitoneal shunting (VPS) and later presented peritoneal metastasis. We also reviewed the related literature. Even though rare, disease dissemination through VPS should be sought in patients with CNS tumors and VPS who develop new abdominal symptoms. The early diagnosis and intervention may minimize morbidity and improve quality of life of such patients.

Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.

BACKGROUND: In this study, the authors present the outcomes of 4 patients with a severe form of Crouzon syndrome characterized by mutation of fibroblast growth factor receptor 2 (FGFR2) c.1040 C > G p.Ser347Cys or the pathogenic c.1061C > G p.Ser354Cys variant of FGFR2, who underwent posterior vault distraction osteogenesis (PVDO) to alleviate elevated intracranial pressure. METHODS: Patients with diagnosed Crouzon syndrome who were found by genetic testing to have an FGFR2 c.1040 C > G p.Ser347Cys mutation or the c.1061C > G p.Ser354Cys variant were included. Outcome data and presence of hydrocephalus, Chiari Malformation type I (CMIs), and the presence/absence of a tracheostomy were recorded. RESULTS: Three patients with the FGFR2 c.1040 C > G p.Ser347Cys mutation and 1 with the pathogenic FGFR2 c.1061C > G p.Ser354Cys variant were identified as having characteristics of severe Crouzon syndrome. The mean age at PVDO was 15 months and the mean posterior advancement was 20 mm. All 4 patients experienced sufficient relief of the elevated intracranial pressure from the PVDO to prevent the need for shunt placement, stabilize the ventricular dimensions (n = 2), and resolve the CMIs (n = 2). Intracranial pressure screening ruled out malignant cerebrospinal fluid volume increase. CONCLUSIONS: PVDO effectively prevented hydrocephalus and resolved CMIs, successfully alleviating intracranial pressure and maximizing clinical outcomes for patients with severe Crouzon syndrome.

Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.

BACKGROUND: Presenting a wide clinical spectrum and large variety of clinical features, successful treatment of Apert syndrome necessitates performance of sequential multiple surgeries before a patient's facial skeleton growth is complete.The objective of this study is to compare forehead contour asymmetry and clinical outcomes between Apert patients who underwent either fronto-orbital advancement (FOA) or posterior vault distraction osteogenesis (PVDO). METHODS: A retrospective study was performed on consecutive patients with Apert syndrome who underwent either FOA or PVDO between 2007 and 2019, and participated in at least 6 months of follow-up care. Forehead contour asymmetry and surgical outcomes for each of the included patients were verified through medical records, clinical photographs, and interviews with the parents of the patients. The need for additional craniofacial procedures based on the surgical outcomes of each patient was graded from I to IV utilizing the Whitaker outcome classification system. RESULTS: Forehead contour asymmetry for all included patients was rated under the Whitaker grading scale as type II (n = 4) 44.4%, type III (n = 2) 22.2%, and type IV (n = 3) 33.3% for FOA, and type I (n = 5) 35.7%, type II (n = 7) 50%, and type III (n = 2) 14.3%, for PVDO (P < 0.05). The average transfused blood volume was 47.77 ±â€Š9.42 mL/kg for patients who underwent FOA, and 22.75 ±â€Š10.31 mL/kg for patients who underwent PVDO (P < 0.05). CONCLUSIONS: Patients who underwent PVDO had lower forehead contour asymmetry as per the Whitaker outcome grading scale than patients who underwent FOA.

Behavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis.

BACKGROUND: It is well accepted among craniofacial surgeons that surgery does not improve mental status but does prevent worsening or deterioration of cognitive and mental function. In this report, we describe significant improvement in behavioral, learning skills and visual acuity for a Crouzon patient who underwent late posteriorvault distraction osteogenesis. METHODS: A 9-year-old Crouzon patient was referred to our hospital, presenting severe intracranial hypertension. The patient had previously undergone a strip craniectomy in early infancy at another medical institution, but there was no subsequent follow-up. Magnetic resonance imaging showed Chiari type I malformation and fundoscopy revealed papilledema. At the time of referral, the patient was not attending a regular school, had not acquired reading skills, was unable to concentrate, and could not accomplish school-related tasks that were standard for children in his age group. RESULTS: The patient underwent posterior vault distraction osteogenesis and showed concentration improvement and acquisition of fluent reading skills. Chiari type I malformation resolved as well as papilledema. visual acuity improved at Snellen test preoperatively from 20/200 to 20/60 at postoperative test. Ventricle size remained unchanged subsequent to performance of the posterior cranial vault distraction. The occipital veins were less visible upon clinical examination and less pronounced when palpated, and the bruit had completely disappeared. CONCLUSION: Late posterior vault distraction osteogenesis can improve behavioral, learning skills and visual acuity as shown in this 9-year-old Crouzon patient.

Transsylvian amygdalohippocampectomy for mesial temporal lobe epilepsy: Comparison of three different approaches.

OBJECTIVE: This study's objective was to compare the transinsular (TI-AH), transuncus (TU-AH), and temporopolar (TP-AH) amygdalohippocampectomy approaches regarding seizure control, temporal stem (TS) damage, and neurocognitive decline. METHODS: We included 114 consecutive patients with unilateral hippocampal sclerosis (HS) who underwent TI-AH, TU-AH, or TP-AH between 2002 and 2017. We evaluated seizure control using Engel classification. We used diffusion tensor imaging and postoperative Humphrey perimetry to assess the damage of the TS. We also performed pre- and postoperative memory performance and intelligence quotient (IQ). RESULTS: There were no significant differences in the proportion of patients free of disabling seizures (Engel IA+IB) among the three surgical approaches in the survival analysis. However, more patients were free of disabling seizures (Engel IA+IB) at 2 years of postsurgical follow-up with TP-AH (69.5%) and TI-AH (76.7%) as compared to the TU-AH (43.5%) approach (p = .03). The number of fibers of the inferior fronto-occipital fasciculus postoperatively was reduced in the TI-AH group compared with the TU-AH and TP-AH groups (p = .001). The rate of visual field defects was significantly higher with TI-AH (14/19, 74%) in comparison to the TU-AH (5/15, 33%) and TP-AH (13/40, 32.5%) approaches (p = .008). Finally, there was a significant postoperative decline in verbal memory in left-sided surgeries (p = .019) and delayed recall for both sides (p < .001) regardless of the surgical approach. However, TP-AH was the only group that showed a significant improvement in visual memory (p < .001) and IQ (p < .001) for both right- and left-sided surgeries. SIGNIFICANCE: The TP-AH group had better short-term seizure control than TU-AH, a lower rate of visual field defects than TI-AH, and improved visual memory and IQ compared to the other groups. Our findings suggest that TP-AH is a better surgical approach for temporal lobe epilepsy with HS than TI-AH and TU-AH.

Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort.

OBJECTIVE: We aimed to better characterize the magnetic resonance imaging (MRI) findings of mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE), a rare clinicopathological entity associated with pharmacoresistance recently described in patients with frontal lobe epilepsy. METHODS: We studied 12 patients who underwent epilepsy surgery and whose surgical specimens showed histopathological findings of MOGHE, characterized by preserved cortical lamination, blurred gray-white matter interface due to increased number of oligodendrocytes, and heterotopic neurons in the white matter. The age at MRI evaluation ranged from 11 to 58 years, except for one 4.5-year-old patient. RESULTS: Following a detailed MRI analysis using an in-house protocol, we found abnormalities in all cases. The lesion was circumscribed in the frontal lobe in six (50%) and in the temporal lobe in three (25%) patients. In the remaining three patients (25%), the lesion was multilobar (frontotemporal and temporoparieto-occipital). Cortical thickening was mild in all patients, except in the 4.5-year-old patient, who had pronounced cortical thickening and white matter blurring. We also identified cortical/subcortical hyperintense T2/fluid-attenuated inversion recovery signal associated with gray/white matter blurring in all but one patient. When present, cleft cortical dimple, and deep sulci aided in localizing the lesion. Overall, the MRI findings were like those in focal cortical dysplasia (FCD) Type IIa. Surgical outcome was excellent in five patients (Engel Class I in 25% and II in 17%). The remaining seven patients (58%) had worthwhile seizure reduction (Engle Class III). Incomplete lesion resection was significantly associated with worse outcomes. SIGNIFICANCE: MRI findings associated with MOGHE are similar to those described in FCD Type IIa. Although more frequent in the frontal lobe, MOGHE also occurred in the temporal lobe or involved multiple lobes. Multilobar or extensive MOGHE MRI lesions are associated with less favorable surgical outcomes. Because this is a rare condition, multicenter studies are necessary to characterize MOGHE further.

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Crouzon syndrome is a rare form of syndromic craniosynostosis (SC) characterized by premature fusion of the cranial and facial sutures, elevated intracranial pressure, varying degrees of ocular exposure due to exorbitism, and airway compromise caused by midface retrusion. Craniolacunae and upper and lower extremity anomalies are not frequently found in Crouzon syndrome. We present a girl with Crouzon syndrome caused by c.1040 C > G, p.Ser347Cys, a pathogenic mutation in the FGFR2 gene with atypical characteristics, including craniolacunae resembling severe Swiss cheese type of bone formation, and upper and lower extremity anomalies which are more commonly associated with Pfeiffer syndrome patients. Distinguishing between severe Crouzon syndrome patients and patients who have mild and/or moderate Pfeiffer syndrome can be challenging even for an experienced craniofacial surgeon. An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical complications and facilitates appropriate family counseling related to long-term outcomes.

Syndrome-related outcomes following posterior vault distraction osteogenesis.

PURPOSE: The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome-related outcomes following the posterior vault distraction osteogenesis (PVDO) procedure, as well as data addressing whether or not additional procedures will be subsequently necessary to comprehensively treat children who undergo PVDO. Thus, the objective of this study is to describe and compare syndrome-related potential complications and outcomes associated with the PVDO procedure. METHODS: An observational retrospective study was performed on consecutive patients (n=24) with Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, or Saethre-Chotzen syndrome, respectively, who underwent PVDO between 2012 and 2019. Demographic data (patient gender and age when the PVDO procedure was performed), diagnosis, surgery-related data, and outcome data (perioperative and midterm complications and need for additional surgery) were verified. RESULTS: Total relative blood transfusion volumes per kilogram for the patients were as follows: 22.75 ± 9.30 ml for Apert syndrome, 10.73 ± 2.28 ml for Crouzon syndrome (Apert versus Crouzon, p<0.05), 18.53 ± 8.08 ml for Pfeiffer syndrome, and 19.74 ± 9.12 ml for Saethre-Chotzen syndrome. None of the patients required a secondary procedure to alleviate intracranial pressure except for a Saethre-Chotzen patient. CONCLUSION: PVDO is an effective technique to address elevated intracranial pressure in SC patients that alleviates the need for secondary procedures at midterm follow-up. Apert syndrome patients presented relatively higher total blood transfusion rates than Crouzon syndrome patients who were operated on at a later age and weighed more.

Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

BACKGROUND: Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates. METHODS: A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. RESULTS: A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period. CONCLUSION: The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.

An Extended 45-year Long-term Follow-up on a 1-13 Rare Facial Cleft Patient.

ABSTRACT: We present here the unique case of a patient with a Tessier 1-13 rare facial cleft accompanied by cleft lip and palate and Tessier grade 2 hypertelorism. The patient described in this article has a twin brother who shares a number of genetic traits and physical features but does not present facial cleft or hypertelorism. The 45-year follow-up in this case is believed to be the longest follow-up to date to have been reported in the literature, and sheds significant light on the importance of extended longitudinal follow-up to maximize patient outcomes.

Long-Term Morphologic Changes on Sagittal Synostosis Patients Who Underwent a Modified Pi Technique.

BACKGROUND: There are paucity of studies focused on the long-term assessment of the craniofacial changes after a pi-plasty procedure and self-reported quality of life outcomes. Thus, this study aimed to assess long-term morphologic changes and quality of life of patients with sagittal synostosis who underwent surgery with a modified pi-plasty. METHODS: Consecutive patients with sagittal synostosis who underwent surgery and had more than 5 years of follow-up and standard preoperative and 1, 3, and 5 years right profile view photographs were included. Nasofrontal angle and angle of total facial convexity were evaluated using computerized photogrammetric measurements. Additionally, quality of life outcome was evaluated by the Quality of Life Scale Short Form. RESULTS: The total facial convexity angle and nasofrontal angle increased significantly (P < 0.05), with a P-value of 0.013 and 0.012, respectively. Patients had quality of life scores >80 in all of the 4 domains, with the highest scores being: physical health domain 80.0 ±â€Š0, psychologic domain 85.0 ±â€Š5, social relationships domain 86.6 ± 0, and environmental domain 98.13 ±â€Š2.42. CONCLUSION: Facial angles significantly changed over 5 years of follow-up. Self-reported quality of life instrument showed that patients are satisfied with their own appearance, contributing positively to their quality of life.