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The Turkish Journal of Pediatrics 2023Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive...
BACKGROUND
Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative phosphorylation system. Death usually appears in the first weeks or years of lifespan.
CASE
We report a male patient with ventriculomegaly diagnosed in the 8th month of pregnancy. The delivery was done by caesarean section and respiratory failure occurred immediately after birth. Hypoglycemia, lactic acidosis, elevated gamma-glutamyl transferase and hepatomegaly were confirmed. The brain MRI detected hypoplasia of the cerebellar hemispheres, dilated lateral ventricles, and markedly immature brain parenchyma. Epilepsy had been present since the third month. At 5 months of age, neurological follow-up showed his head circumference to be 37 cm, with plagiocephaly, a low hairline, a short neck, axial hypotonia and he did not adopt any developmental milestones. A genetic mutation, a missense variant in the GFM1 gene, was confirmed: c.748C > T (p.Arg250Trp) was homozygous in the GFM1 gene.
CONCLUSIONS
To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.
Topics: Female; Humans; Infant, Newborn; Male; Pregnancy; Cesarean Section; Hepatic Encephalopathy; Metabolism, Inborn Errors; Mitochondrial Diseases; Mitochondrial Proteins; Mutation; Peptide Elongation Factor G; Serbia
PubMed: 38204316
DOI: 10.24953/turkjped.2022.1082 -
Clinical and Experimental Pediatrics Jan 2024The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.
BACKGROUND
The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.
PURPOSE
This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors.
METHODS
Ninety pediatric patients diagnosed with moderate to severe positional plagiocephaly received helmet therapy. Severity of moderate to severe positional plagiocephaly was defined as cranial vault asymmetry (CVA) >10 mm or CVA index (CVAI) >6%. Patients were categorized by age, severity, and daily helmet wear. Multiple regression analysis controlled for factors like sex and prematurity. Treatment success was assessed by comparing pre/post-helmet theray CVA and CVAI, considering normalization or decrease to mild plagiocephaly (CVA ≤10 mm or CVAI ≤6%).
RESULTS
A total of 90 participants were enrolled (mean age, 5.6±1.6 months; male, 53 [58.9%]). The mean helmet therapy duration was 6.4±2.7 months, while the mean daily wear time was 18.4±2.7 hours. Among the 90 patients, 66 (73.3%) had moderate disease and 24 (26.7%) had severe disease. The mean CVA and CVAI decreased by 6.3±2.7 mm and 4.3%±1.8% after versus before treatment (P<0.001). Treatment was successful in 76 infants (84.4%). The most effective changes in CVA and CVAI were noted in those who began treatment before 9 months of age (6.2±2.5 mm and 5.0%±1.9%, P<0.001), had high compliance (6.2±2.4 mm and 4.9%±1.9%, P<0.001), and had high severity (8.0±2.3 mm and 6.6%±1.7%, P<0.001).
CONCLUSION
Starting helmet treatment before 9 months and wearing it over 15 hours daily yielded better outcomes.
PubMed: 38062714
DOI: 10.3345/cep.2023.00626 -
Journal of Clinical Medicine Nov 2023Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train...
Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train convolutional neural networks (CNNs) to classify craniofacial deformities based on 2D images generated using photogrammetry as a radiation-free imaging technique. A total of 487 patients with photogrammetry scans were included in this retrospective cohort study: children with craniosynostosis (n = 227), positional deformities (n = 206), and healthy children (n = 54). Three two-dimensional images were extracted from each photogrammetry scan. The datasets were divided into training, validation, and test sets. During the training, fine-tuned ResNet-152s were utilized. The performance was quantified using tenfold cross-validation. For the detection of craniosynostosis, sensitivity was at 0.94 with a specificity of 0.85. Regarding the differentiation of the five existing classes (trigonocephaly, scaphocephaly, positional plagiocephaly left, positional plagiocephaly right, and healthy), sensitivity ranged from 0.45 (positional plagiocephaly left) to 0.95 (scaphocephaly) and specificity ranged from 0.87 (positional plagiocephaly right) to 0.97 (scaphocephaly). We present a CNN-based approach to classify craniofacial deformities on two-dimensional images with promising results. A larger dataset would be required to identify rarer forms of craniosynostosis as well. The chosen 2D approach enables future applications for digital cameras or smartphones.
PubMed: 38002694
DOI: 10.3390/jcm12227082 -
Journal of Osteopathic Medicine Apr 2024Deformational plagiocephaly (DP) is on the rise in pediatric patients. The current standard of care recommended for management is repositioning with possible addition of...
CONTEXT
Deformational plagiocephaly (DP) is on the rise in pediatric patients. The current standard of care recommended for management is repositioning with possible addition of cranial orthoses. However, strong data are lacking to support these recommendations. Osteopathic manipulative treatment (OMT) is another treatment option for DP that is also lacking evidential support.
OBJECTIVES
This retrospective chart review study investigated the effects of OMT at restoring a more symmetrical cranial bone configuration in children with DP.
METHODS
A retrospective chart review was performed on medical records of patients with a diagnosis of DP from three private practices over a 4-year period from September 2017 to December 2021. Inclusion criteria were diagnoses of DP by a referring physician and aged 10 months or less at the time of initial evaluation and treatment. Patients were excluded if they had confounding diagnoses such as genetic syndromes or severe torticollis. A total of 26 patients met these criteria, and their records were reviewed. The main outcome reviewed was anthropometric assessment of the cranium, mainly the cranial vault asymmetry index (CVAI).
RESULTS
Participants demonstrated a mean CVAI - a measure that determines the severity of DP - of 6.809 (±3.335) (Grade 3 severity) at baseline, in contrast to 3.834 (±2.842) (Grade 2 severity) after a series of OMT treatments. CVAI assessment after OMT reveals statistically significant (p≤0.001) decreases in measurements of skull asymmetry and occipital flattening. No adverse events were reported throughout the study period.
CONCLUSIONS
The application of OMT has shown potential benefit for reducing cranial deformity in patients with DP.
Topics: Child; Humans; Manipulation, Osteopathic; Retrospective Studies; Plagiocephaly
PubMed: 37999741
DOI: 10.1515/jom-2023-0168 -
Andes Pediatrica : Revista Chilena de... Jun 2023Prematurity is a risk factor for positional cranial deformities since preterm infants have a more malleable skull and are susceptible to deformities due to external...
UNLABELLED
Prematurity is a risk factor for positional cranial deformities since preterm infants have a more malleable skull and are susceptible to deformities due to external pressures.
OBJECTIVES
To describe positional cranial deformities and peri/postnatal pathologies in preterm infants and to analyze the association between gestational age, birth weight, length of hospitalization, and severity of cranial deformities measured by the Cranial Vault Asymmetry Index (CVAI) and the Cephalic Index (CI).
PATIENTS AND METHOD
Analytic, cross-sectional study. 103 preterm infants aged under 4 months of corrected age admitted during 2017 to an Early Intervention Program (EIP) were included. Participants were classified according to gestational age as follows: extremely preterm (< 28 weeks), very preterm (28-32 weeks), and moderate-to-late preterm (32-37 weeks). Head circumference, anteroposterior diameter, width, and head diagonals were measured, and the CVAI and CI were calculated. Peri- and postnatal history was obtained from clinical records.
RESULTS
103 preterm infants were evaluated (17 extremely preterm, 78 very preterm, and 8 moderate-to-late preterm). 99 (96.1%) of the preterm infants had positional cranial deformity and, regardless of the degree of prematurity, presented similar cranial anthropometric measurements. Mild plagiocephaly was the most frequent cranial deformity in all groups. We observed a positive association between the days of hospitalization and the CVAI and there was no relationship between the degree of prematurity and the severity of the positional cranial deformation.
CONCLUSIONS
Most of the patients admitted to the EIP presented positional cranial deformities, mainly mild plagiocephaly, regardless of the degree of prematurity. The presence of plagiocephaly was positively associated with prolonged periods of hospitalization. No relationship was confirmed between the degree of prematurity and the severity of the positional cranial deformity.
Topics: Infant, Newborn; Infant; Humans; Infant, Premature; Cross-Sectional Studies; Gestational Age; Birth Weight; Plagiocephaly
PubMed: 37909939
DOI: 10.32641/andespediatr.v94i3.4097 -
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