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Turkish Neurosurgery 2023To review the cases of craniosynostosis secondary to ventricular shunting procedure.
AIM
To review the cases of craniosynostosis secondary to ventricular shunting procedure.
MATERIAL AND METHODS
We retrospectively evaluated the medical records of all pediatric patients with hydrocephalus who were treated with ventriculoperitoneal shunt procedure between the years 2017 and 2021 at the Selcuk University, Ankara University, and Bursa Uludag University.
RESULTS
Twenty-one patients were included in the study. The median age at the time of insertion of ventriculoperitoneal shunt for hydrocephalus was 8.1 (range, 1?22) months. Seven patients were shunted because of congenital hydrocephalus. The mean time to development of secondary synostosis was 8.8 (range, 1?36) months. Plagiocephaly was the most common type of secondary synostosis. While shunt revision was performed in 16 patients, cranial vault expansion surgery was performed in 5 patients.
CONCLUSION
Slit ventricle syndrome is a frequent condition at shunted patients, but there is no consensus on identifying patients who require treatment. Using programmable or high-pressure valves, performing cranial vault modeling are possible treatment modalities. Increased awareness of this condition in follow-up may allow early diagnosis and intervention and prevent it from evolving into more serious deformities.
Topics: Humans; Infant; Craniosynostoses; Hydrocephalus; Retrospective Studies; Skull; Ventriculoperitoneal Shunt
PubMed: 37846534
DOI: 10.5137/1019-5149.JTN.42872-22.3 -
Journal of Clinical Medicine Sep 2023(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the...
(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the sternocleidomastoid muscle. For clinicians, it is crucial to know the prevalence of ocular torticollis (OT) to ensure appropriate referral for treatment. Furthermore, associated ophthalmic features with OT in these patients are scarcely described. The aim of this study was to determine the prevalence of OT in non-syndromic UCS patients and investigate its associated ophthalmic features. (2) Methods: In this descriptive cross-sectional study medical records of non-syndromic UCS patients treated between 1994-2022 in one tertiary care hospital in The Netherlands were retrospectively reviewed. Collected data included: diagnosis and type of torticollis, binocular single vision (BSV), strabismus, ocular motility, alphabetical patterns, refractive error, and amblyopia. Patients were classified as OT, based on their ophthalmic and/or orthoptic diagnosis. Prevalence was determined with the 95% CI using the Clopper-Pearson exact test. Associations between OT and the ophthalmic features were determined using Chi-square or Fishers' exact test and its effect size was calculated using Cramer's V. (3) Results: In total, 146 patients were included, of whom 57 had torticollis. An ocular cause for the torticollis was found in 54 patients. The prevalence of OT was 37% (n = 146; 95% CI [0.292-0.454]). Significant associations were found between OT and strabismus ( < 0.001), ocular motility abnormalities ( < 0.001), alphabetical patterns ( < 0.001), and amblyopia ( = 0.002). BSV ( = 0.277) and refractive error ( = 1.0) were not significantly associated with OT. However, in OT the BSV was relatively poor (42.1%) and more frequently absent (26.3%) compared to the non-torticollis group (7% poor and 16.3% absent). In both groups, excyclotorsion was predominantly present (62.3%). (4) Conclusions: In 95% of cases, torticollis in UCS patients is ocular-related. Overall, one in three patients with UCS have OT. This study emphasizes the importance of a timely referral of all patients with UCS with torticollis to an orthoptist and/or ophthalmologist, specialized in diagnosing and treatment of OT, before considering physiotherapy.
PubMed: 37762999
DOI: 10.3390/jcm12186059 -
JPRAS Open Dec 2023This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using...
This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using posteroanterior cephalogram analysis and three-dimensional computed tomography (3D-CT). This retrospective cohort study included 31 patients who underwent BSSRO for mandibular asymmetry. The cranial vault asymmetry index (CVAI) and the cephalic index were used as indicators of positional plagiocephaly. The distance from the vertical reference line to the menton (Me) was measured on posteroanterior cephalograms immediately and 1 year after surgery, and postoperative stability was assessed. Temporal and masseter muscles were constructed from 3D-CT data and their volumes were measured. Simple regression analysis showed a significant correlation between postoperative changes in the vertical reference line to the Me and the CVAI ( = 0.56, = 0.001), the amount of surgical movement in the vertical reference line to the Me ( = 0.41, = 0.023), and the variable temporal muscle volume ( = 0.27, = 0.028). There was no significant correlation between postoperative changes in the vertical reference line to the Me and the cephalic index ( = 0.093, = 0.62) and variable masseter muscle volume ( = 0.16, = 0.38). According to multivariate analysis, CVAI ( = 0.003) and amount of surgical movement in the vertical reference line to the Me ( = 0.014) were significant predictors of postoperative change in the vertical reference line to the Me. Positional plagiocephaly and amount of surgical movement influence lateral skeletal stability following BSSRO for mandibular asymmetry.
PubMed: 37675277
DOI: 10.1016/j.jpra.2023.08.006 -
Journal of Medical Imaging (Bellingham,... Jul 2023[This corrects the article DOI: 10.1117/1.JMI.8.2.024504.].
[This corrects the article DOI: 10.1117/1.JMI.8.2.024504.].
PubMed: 37581170
DOI: 10.1117/1.JMI.10.4.049801 -
Medicina (Kaunas, Lithuania) Jun 2023Heterozygous pathogenic variants in the gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789)....
Heterozygous pathogenic variants in the gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features, including plagiocephaly, strabismus, clubfoot, poor speech, and developmental delay. The aim of this study was to evaluate the clinical significance and consequences of a novel heterozygous intragenic deletion in a proband with clinical features of a -related disorder through extensive clinical, molecular, and functional characterisation. Combined comparative genomic hybridisation and single-nucleotide polymorphism array (SNP-CGH) was used to identify the changes in the proband's gDNA sequence (DECIPHER #430183). Intragenic deletion was specified via quantitative polymerase chain reaction (qPCR) and Sanger sequencing of the proband's cDNA sample. Western blot and bioinformatics analyses were used to investigate the consequences of this copy number variant (CNV) at the protein level. CRISPR-Cas9 technology was used for a -gene-silencing experiment in a culture of the control individual's skin fibroblasts. After the -gene-editing experiment, subsequent functional fibroblast culture analyses were performed. The analysis of the proband's cDNA sample allowed for specifying the regions of the breakpoints and identifying the heterozygous deletion that spanned exons 3 to 10 of , which has not been reported previously. In silico, the deletion was predicted to result in a truncated protein NP_056150.1:p.(Val104Glyfs*5), partly altering the Med13_N domain and losing the MedPIWI and Med13_C domains. After gene editing was performed, reduced cell viability; an accelerated aging process; and inhibition of the , , and gene expression were found to exist. Based on these findings, heterozygous intragenic 12q24.21 deletion in the affected individual resulted in haploinsufficiency due to the premature termination of protein translation, therefore leading to haploinsufficiency syndrome.
Topics: Humans; Haploinsufficiency; Intellectual Disability; Phenotype; DNA, Complementary; Syndrome; Mediator Complex
PubMed: 37512036
DOI: 10.3390/medicina59071225 -
Children (Basel, Switzerland) Jul 2023Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and...
BACKGROUND
Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults.
MATERIAL AND METHODS
This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7-19 years) and three adults (aged 40-52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy-Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly.
RESULTS
All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen-Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy-Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis-Dandy-Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing.
CONCLUSION
The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures.
PubMed: 37508737
DOI: 10.3390/children10071240 -
Children (Basel, Switzerland) Jul 2023The objective of this study is to analyze conservative treatments implemented to manage positional plagiocephaly in infants. (Review)
Review
OBJECTIVE
The objective of this study is to analyze conservative treatments implemented to manage positional plagiocephaly in infants.
METHODS
This is a systematic review conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, performed in the Medline (PubMed), Scopus, Web of Science, and Cochrane databases. Articles were selected according to the eligibility criteria, regarding the effectiveness of conservative treatments in positional plagiocephaly in infants, published in the last 10 years with a score ≥3 in the PEDro Scale.
RESULTS
A total of 318 articles were identified and 9 of them were finally selected.
CONCLUSIONS
Physical therapy treatment is considered as the first line of intervention in plagiocephaly with non-synostotic asymmetries and manual therapy is the method that obtains the best results within this intervention. In cases of moderate or severe plagiocephaly, helmet therapy can be an effective second-line intervention; however, the best way to prevent this condition is through counseling of parents or caregivers, and early treatment is essential for optimal therapeutic outcomes. The review was registered in PROSPERO (CDR42022306466).
PubMed: 37508680
DOI: 10.3390/children10071184 -
Current Eye Research Oct 2023To summarize the ophthalmic manifestations of unilateral coronal synostosis patients. (Review)
Review
PURPOSE
To summarize the ophthalmic manifestations of unilateral coronal synostosis patients.
METHODS
We performed a literature search in the electronic database of PubMed, CENTRAL, Cochrane, and Ovid Medline guided by Preferred Reporting Items for Systematic Reviews and Meta-Analysis Statement for studies evaluating ophthalmic manifestations of unilateral coronal synostosis.
RESULTS
Unilateral coronal synostosis, also called unicoronal synostosis, may be mistaken for deformational plagiocephaly, an asymmetric skull flattening common in newborns. Characteristic facial features, however, distinguish the two. Ophthalmic manifestations of unilateral coronal synostosis include a "harlequin deformity", anisometropic astigmatism, strabismus, amblyopia, and significant orbital asymmetry. The astigmatism is greater on the side opposite the fused coronal suture. Optic neuropathy is uncommon unless unilateral coronal synostosis accompanies more complex multi-suture craniosynostosis. In many cases, surgical intervention is recommended; without intervention, skull asymmetry and ophthalmic disorders tend to worsen with time. Unilateral coronal synostosis can be managed by early endoscopic stripping of the fused suture and helmeting through a year of age or by fronto-orbital-advancement at approximately 1 year of age. Several studies have demonstrated that anisometropic astigmatism, amblyopia, and severity of strabismus are significantly lower after earlier intervention with endoscopic strip craniectomy and helmeting compared to treatment by fronto-orbital-advancement. It remains unknown whether the earlier timing or the nature of the procedure is responsible for the improved outcomes. As endoscopic strip craniectomy can only be performed in the first few months of life, early recognition of the facial, orbital, eyelid, and ophthalmic characteristics by consultant ophthalmologists enables expeditious referral and optimized ophthalmic outcomes.
CONCLUSION
Timely identification of craniofacial and ophthalmic manifestations of infants with unilateral coronal synostosis is important. Early recognition and prompt endoscopic treatment appears to optimize ocular outcomes.
Topics: Infant, Newborn; Infant; Humans; Amblyopia; Astigmatism; Retrospective Studies; Craniosynostoses; Strabismus
PubMed: 37382098
DOI: 10.1080/02713683.2023.2224536 -
Plastic and Reconstructive Surgery.... May 2023Unilateral lambdoid craniosynostosis is differentiated from deformational plagiocephaly primarily by assessing the cranium from posterior and bird's-eye views. Findings...
UNLABELLED
Unilateral lambdoid craniosynostosis is differentiated from deformational plagiocephaly primarily by assessing the cranium from posterior and bird's-eye views. Findings include posterior displacement of the ipsilateral ear, ipsilateral occipitomastoid bossing, ipsilateral occipitoparietal flattening, contralateral parietal bossing, and contralateral frontal bossing. Diagnosis based off facial morphology may be an easier approach because the face is less obstructed by hair and head-coverings, and can easily be assessed when supine. However, frontofacial characteristics of unilateral lambdoid craniosynostosis are not well described.
METHODS
A retrospective cohort review of patients with isolated, unilateral lambdoid craniosynostosis from the Children's Hospital of Pittsburgh and the Children's Hospital of Philadelphia was performed. Preoperative frontal and profile photographs were reviewed for salient characteristics.
RESULTS
Nineteen patients met inclusion criteria. Eleven patients had left lambdoid craniosynostosis, and eight had right lambdoid craniosynostosis. All patients were nonsyndromic. Patients demonstrated contralateral parietal bossing and greater visibility of the ipsilateral ear. Contralateral frontal bossing was mild. The orbits were tall and turricephaly was present in varying severity. Facial scoliosis as a C-shaped deformity was present in varying severity. The nasal root and chin pointed to the contralateral side.
CONCLUSIONS
The combination of greater visibility of the ipsilateral ear, contralateral parietal bossing, and C-shaped convex ipsilateral facial scoliosis are hallmark frontofacial features of unilateral lambdoid craniosynostosis. Although the ipsilateral ear is more posterior, the greater visibility may be attributed to lateral displacement from the mastoid bulge. Evaluation of long-term postoperative results is needed to assess if this pathognomonic facial morphology is corrected following posterior vault reconstruction.
PubMed: 37360231
DOI: 10.1097/GOX.0000000000005011