NeuropediatricsPub Date : 2025-06-20DOI: 10.1055/a-2627-2097
Benoit Semal, Sebastian Neuens, Catheline Vilain, Corinne De Laet, Gil Leurquin-Sterk, Claudine Sculier, Simon Baijot, Alec Aeby
{"title":"Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and Acetazolamide.","authors":"Benoit Semal, Sebastian Neuens, Catheline Vilain, Corinne De Laet, Gil Leurquin-Sterk, Claudine Sculier, Simon Baijot, Alec Aeby","doi":"10.1055/a-2627-2097","DOIUrl":"10.1055/a-2627-2097","url":null,"abstract":"<p><p>Solute carrier family 45 member A1 (SLC45A1) is a glucose brain transporter predominantly expressed in the developing and adult brain, including the cortex and cerebellum. Pathogenic variants in <i>SLC45A1</i> have been described in four patients from two unrelated families with dysmorphic features, intellectual disability, and focal epilepsy. We describe the fifth <i>SLC45A1</i> patient, presenting with focal refractory epilepsy responsive to ketogenic diet (KD) and acetazolamide.A 3-year-old boy presented with developmental delay and unexpected nighttime arousals followed by sudden right arm extension suggestive of epilepsy. Long-term video electroencephalogram and semiology were evocative of a left-frontal focus. Brain magnetic resonance imaging (MRI) was normal. Clinical exome, metabolic evaluation, and lumbar puncture were non-contributive. The patient was treated unsuccessfully with carbamazepine, valproate, levetiracetam, lamotrigine, topiramate, lacosamide, and clobazam. Presurgical evaluation was planned because of refractory epilepsy. Meanwhile, a KD was introduced, and the child became seizure-free with cognitive improvement. After 2 years, the KD was stopped, and seizures relapsed. Acetazolamide was introduced with seizure freedom for 10 months. Exome analysis revealed compound heterozygous variants p.Pro560Leu and p.Arg57Cys in the <i>SLC45A1</i> gene.This case illustrates that KD and acetazolamide might be effective in <i>SLC45A1-</i>related epilepsy and underscores the importance of genetic testing in the presurgical evaluation of epilepsy.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-18DOI: 10.1055/a-2627-1974
Bablu Kumar Gaur, Mohamad Habib F Meman, Shruti Jain
{"title":"Comparative Analysis of Full Outline of Unresponsive Score and Glasgow Coma Scale Score for Outcomes Prediction in Children with Impaired Consciousness.","authors":"Bablu Kumar Gaur, Mohamad Habib F Meman, Shruti Jain","doi":"10.1055/a-2627-1974","DOIUrl":"https://doi.org/10.1055/a-2627-1974","url":null,"abstract":"<p><p>This study aimed to compare two distinct consciousness evaluation scores (the pediatric Glasgow coma scale [GCS] scale and the full outline of unresponsive [FOUR] score) to predict outcomes for children admitted to the pediatric intensive care unit with impaired consciousness.Children aged between 2 and 18 years who presented with impaired consciousness were included in this longitudinal study. The lead investigator evaluated the pediatric GCS score and the FOUR score. The first 3 days' score readings of both the scores were taken for analysis. The primary outcome of children was recorded as in-hospital mortality. The secondary outcome was functional outcome measured by the modified Rankin scale.A total of 78 children presented with impaired consciousness were eligible for statistical analysis. Survivors and nonsurvivors had significantly different FOUR and GCS scores at admission, 24 and 48 hours (<i>p</i> < 0.0001). The predictive accuracy of the FOUR scale at admission was slightly higher than GCS considering that the area under the curve (AUC) for the FOUR score was higher (AUC = 0.850; 95% confidence interval [CI]: 0.735-0.956) than GCS (AUC = 0.834; 95% CI: 0.735-0.934). The projected outcome based on the FOUR score and the actual patient outcomes were statistically significantly correlated (<i>p</i> = 0.021). Results showed that the FOUR scores had higher sensitivity (89%) specificity (84%), and negative predictive value (83%) than the GSC scale.The FOUR at admission was a better predictor of the outcome as compared with the Glasgow coma scale. More sensitivity of the FOUR scores than GCS makes it an advisable predictive model for children with impaired consciousness.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-18DOI: 10.1055/a-2627-2045
Mohammadreza Padooiy Nooshabadi, Hossein Akbarnataj Bishe, Seyyed Amir Yasin Ahmadi, Marzieh Eshagh, Maryam Behfar, Leila Jafari, Amir Ali Hamidieh
{"title":"Evaluating Risk Factors for Lethality in Posterior Reversible Encephalopathy Syndrome following Hematopoietic Stem Cell Transplantation in Pediatric Patients: A Systematic Review and Individual Participant Data Meta-analysis.","authors":"Mohammadreza Padooiy Nooshabadi, Hossein Akbarnataj Bishe, Seyyed Amir Yasin Ahmadi, Marzieh Eshagh, Maryam Behfar, Leila Jafari, Amir Ali Hamidieh","doi":"10.1055/a-2627-2045","DOIUrl":"https://doi.org/10.1055/a-2627-2045","url":null,"abstract":"<p><p>Hematopoietic stem cell transplantation (HSCT) is frequently the sole curative treatment for a range of hematologic and nonhematologic disorders. One of the most notable neurological complications associated with HSCT is posterior reversible encephalopathy syndrome (PRES), which affects approximately 1 to 10% of pediatric recipients. Although usually reversible, PRES can lead to serious morbidity and lethality. This systematic review and individual participant data (IPD) meta-analysis aims to evaluate risk factors for lethality and characterize the clinical course of PRES in pediatric HSCT patients.Studies reporting PRES in pediatric HSCT recipients with data on outcomes and risk factors were included. Data were sourced from PubMed, Web of Science, Scopus, and Embase (last search: October 20, 2024). IPD were extracted from articles or requested from corresponding authors. Risk of bias was assessed using the Newcastle-Ottawa Scale. A one-stage IPD meta-analysis evaluated associations between risk factors and lethality and descriptive analyses reported the clinical course of PRES in the included population.Among 175 pediatric patients with PRES across 15 studies, the mean age was 8.68 years, and 64.8% were male. PRES occurred on average 73.08 days post-HSCT presenting with seizures (90.3%), hypertension (87.8%), altered mental status (31.9%), headache (28.5%), visual disturbances (27.1%), and atypical presentations (24.3%). Neuroimaging findings indicated that 12.3% of cases involved only anterior or posterior brain circulation, while most (75.4%) demonstrated dual circulation involvement, with bilateral cerebral involvement observed in 89.8% of patients. The overall lethality rate was 32.5%. The meta-analysis reported an overall prevalence of 7% for PRES among pediatric recipients of HSCT. The IPD meta-analysis revealed no significant associations between lethality and factors such as age (<i>p</i> = 0.590), sex (<i>p</i> = 0.516), atypical PRES presentations (<i>p</i> = 0.642), or the specific cerebral circulation involved (<i>p</i> = 0.758). Conversely, acute graft-versus-host disease demonstrated a trend toward statistical significance for association with lethality (<i>p</i> = 0.056). Additionally, underlying malignant disease (odds ratio [OR]: 2.635, 95% confidence interval [95% CI]: 1.256-5.529, <i>p</i> = 0.01), the use of cord blood as a cell source (OR: 5.692, 95% CI: 1.241-26.109, <i>p</i> = 0.025), and transplantation from an unrelated donor (OR: 4.948, 95% CI: 2.176-11.249, <i>p</i> < 0.001) were significantly associated with increased lethality risk.Malignant underlying disease, cord blood transplantation, and unrelated donors significantly increase lethality risk in pediatric HSCT recipients with PRES. These findings underscore the importance of tailored management strategies to identify and monitor at-risk pediatric HSCT recipients.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-11DOI: 10.1055/a-2625-0994
Tatjana A Oberholzer, Leonie Plastina, David Wille, Selma Sirin, Annette Hackenberg
{"title":"Nausea, Vertical Gaze Palsy, and Excessive Sleep: An Unusual Presentation of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder.","authors":"Tatjana A Oberholzer, Leonie Plastina, David Wille, Selma Sirin, Annette Hackenberg","doi":"10.1055/a-2625-0994","DOIUrl":"10.1055/a-2625-0994","url":null,"abstract":"<p><p>Neuromyelitis optica spectrum disorder (NMOSD) is a rare neuroinflammatory disease with an annual incidence of less than 1 case in 1,000,000 in the White population and a median age of onset at 40 years. NMOSD usually presents with optic neuritis and longitudinally extensive transverse myelitis. Various brainstem, cerebellar, diencephalic, and hemispheric symptoms may also occur. Early diagnosis and treatment are crucial for symptom management and prevention of relapses and disability. We report the case of a prepubertal girl, highlighting unique clinical and magnetic resonance imaging features and the risk of early parenchymal damage.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-04DOI: 10.1055/a-2616-4893
Ehab Mohamed Abd El-Kafy, Nahla Ahmad Almatrafi, Mohamed Salaheldien Alayat, Nawal Alami Tawhari, Najwa Fawzi Abuallam, Hayam Mahmoud Mahmoud
{"title":"Effect of Modified Constraint-Induced Movement Therapy on Upper Limb Function in Children with Hemiplegic Cerebral Palsy.","authors":"Ehab Mohamed Abd El-Kafy, Nahla Ahmad Almatrafi, Mohamed Salaheldien Alayat, Nawal Alami Tawhari, Najwa Fawzi Abuallam, Hayam Mahmoud Mahmoud","doi":"10.1055/a-2616-4893","DOIUrl":"10.1055/a-2616-4893","url":null,"abstract":"<p><p>To assess the effectiveness of modified constraint-induced movement therapy (mCIMT) in improving upper limb function and grip strength in children with hemiplegic cerebral palsy (CP).A comprehensive search was conducted from inception to August 2024. Eligibility criteria were studies evaluating the effectiveness of mCIMT on upper limb function in children with hemiplegic CP aged over 2 years. The following data was extracted from each study: participant characteristics, intervention, outcome measures, follow-up, and key findings. The risk of bias and the quality of the evidence were evaluated using the PEDro scale and the grading of recommendations assessment development and evaluation (GRADE), respectively. A meta-analysis using a random-effect model was performed, and standardized mean difference (SMD) with a 95% confidence interval (CI) was estimated for upper limb function and grip strength.A total of 25 studies (1,115 children) were included. PEDro scale revealed 12 good-quality studies, 8 fair-quality studies, and 5 poor-quality studies. The currently available evidence showed a significant large effect of mCIMT in improving upper limb function (SMD: 1.14 [95% CI: 0.46-1.83]; <i>p</i> = 0.001; 12 studies; 454 children; very-low-quality evidence) and significant medium effect in improving grip strength (SMD: 0.63 [95% CI: 0.12-1.14]; <i>p</i> = 0.02; 3 studies; 92 children; low-quality evidence).mCIMT could improve upper limb function and grip strength in children with hemiplegic CP. However, due to the low and very low quality of evidence, further high-quality trials are needed to confirm these effects.PROSPERO registration number (CRD42023413525).</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-01Epub Date: 2024-12-19DOI: 10.1055/a-2505-8261
Camille C H Winther, Amalie A Berring-Uldum, Nanette Mol Debes
{"title":"Inheritance of Primary Headache in Children and Adolescents-A Scoping Review.","authors":"Camille C H Winther, Amalie A Berring-Uldum, Nanette Mol Debes","doi":"10.1055/a-2505-8261","DOIUrl":"10.1055/a-2505-8261","url":null,"abstract":"<p><p>The objective is to give an update on the current state of research on the genetics of primary headache in children and adolescents. Investigations of the genetics of migraine in adults have changed our understanding of the pathophysiology of migraine, but knowledge from our adult patients cannot be directly applied to pediatric patients. The study was conducted through searches of PubMed and Web of Science. Our search yielded 10 studies. Some of the included studies elucidated correlations between certain characteristics of the headaches in parents and an elevated risk of headache in their children. The follow-up studies found that about one-third of the participants were headache-free at the time of follow-up and about one in four had shifted to a different headache diagnosis. All studies included in this paper found a familial aggregation or heritability of primary headache in children and adolescents.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"152-159"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-01Epub Date: 2025-02-06DOI: 10.1055/a-2524-9091
Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, Maria L Dentici, Lorenzo Sinibaldi, Maria C Digilio, Antonio Novelli, Emanuele Agolini, Adele D'Amico, Enrico Bertini, Francesco Nicita
{"title":"Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.","authors":"Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, Maria L Dentici, Lorenzo Sinibaldi, Maria C Digilio, Antonio Novelli, Emanuele Agolini, Adele D'Amico, Enrico Bertini, Francesco Nicita","doi":"10.1055/a-2524-9091","DOIUrl":"10.1055/a-2524-9091","url":null,"abstract":"<p><strong>Background: </strong> Non-selective sodium leak channel (NALCN) protein encoded by the <i>NALCN</i> gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic <i>NALCN</i> pathogenic variants cause infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) while monoallelic variants lead to congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD). In our work, we aimed to expand the heterozygous <i>NALCN</i>-related clinical spectrum, presenting two affected individuals and a literature review.</p><p><strong>Methods: </strong> We describe two new unrelated subjects harboring monoallelic <i>NALCN</i> pathogenic variants identified through clinical exome sequencing and review the current literature of other heterozygous <i>NALCN</i> patients.</p><p><strong>Results: </strong> The c.3542G > A (p.Arg1181Gln) and the novel c.3423C > A (p.Phe1141Leu) heterozygous missense variants were disclosed in two subjects manifesting a similar phenotype characterized by congenital ataxia with progressive cerebellar atrophy, camptodactyly, and hypertrichosis of the arms (CAPCACH). Other <i>NALCN</i> subjects with overlapping features have already been reported. A combination of these clinical and neuroimaging findings suggests the definition of the new CAPCACH phenotype.</p><p><strong>Conclusion: </strong> We expand the heterozygous <i>NALCN</i>-related clinical spectrum from the more severe CLIFFAHDD to the milder CAPCACH phenotype. These conditions should be considered in the differential diagnosis of syndromic congenital ataxias, and the presence of camptodactyly and/or hypertrichosis may represent peculiar diagnostic clues.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"185-193"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-01Epub Date: 2025-01-14DOI: 10.1055/a-2509-0278
Yiğithan Güzin, Safa Mete Dağdaş, Gamze Sarıkaya Uzan, Mügen Baykan, Pınar Gençpınar, Figen Baydan, Berk Özyılmaz, Gizem Doğan, Belde Kasap Demir, Nihal Olgaç Dündar
{"title":"The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.","authors":"Yiğithan Güzin, Safa Mete Dağdaş, Gamze Sarıkaya Uzan, Mügen Baykan, Pınar Gençpınar, Figen Baydan, Berk Özyılmaz, Gizem Doğan, Belde Kasap Demir, Nihal Olgaç Dündar","doi":"10.1055/a-2509-0278","DOIUrl":"10.1055/a-2509-0278","url":null,"abstract":"<p><strong>Purpose: </strong> Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis, caused by mutations in the <i>MEFV</i> gene. Inflammatory pathways associated with FMF are linked to increased proinflammatory cytokines, which may be related to primary headaches, including migraine. The aim of this study was to evaluate the frequency of migraine and other primary headaches in FMF patients.</p><p><strong>Methods: </strong> In this retrospective study, the medical records of FMF patients were analyzed. Demographic data, <i>MEFV</i> gene mutations, and headache histories were collected. The frequency of migraine was compared among patients with these mutations, and statistical analyses were conducted.</p><p><strong>Results: </strong> The study included 148 FMF patients, comprising 56.1% females and 43.9% males, with a mean age of 11.3 ± 3.7 years. A family history of FMF was reported in 77.7% of patients, and 35.8% had a family history of migraine. Headaches were reported in 52.7% of patients: 24.3% non-specific, 15.5% tension-type, and 12.8% migraine. Of those with migraine, 8.1% had migraine with aura, and 4.7% without aura. Headaches were more frequently frontal in patients under 12 years of age and temporal in those aged ≥12 years (<i>p</i> = 0.011). The most common genetic mutations were M694V heterozygous and homozygous, with M694V and E148Q mutations linked to more frequent migraines, although not statistically significant.</p><p><strong>Conclusion: </strong> FMF patients should be screened for primary headaches, particularly migraine. The high frequency of migraine observed in this study suggests that clinicians should particularly consider migraine as a diagnosis in headache episodes experienced by FMF patients.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"194-199"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-01Epub Date: 2024-12-17DOI: 10.1055/a-2491-2141
Momen Almomen, Maher El Doussouki, Shaikhah Aldossary, Tasneem Atawi
{"title":"Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.","authors":"Momen Almomen, Maher El Doussouki, Shaikhah Aldossary, Tasneem Atawi","doi":"10.1055/a-2491-2141","DOIUrl":"10.1055/a-2491-2141","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 (<i>SMN1</i>) gene mutations. Classically divided into three types, SMA is characterized by hypotonia, weakness, and tongue fasciculation in the first 6 months of life in type 1, inability to walk and limb weakness in type 2, and failure to run with proximal weakness in type 3 SMA. With the advent of newborn screening, treating presymptomatic patients with Onasemnogene abeparvovec (OA) is the treatment of choice in some centers worldwide. The incidence of jaundice is high in this age group, with no recommendation to guide the use of OA in newborns with jaundice. To our knowledge, treating an SMA patient with alloimmune hemolytic disease of the newborn (HDN), a relatively common disease in the newborn period, has never been reported in the past. We report our experience with dosing a presymptomatic child with SMA who had neonatal jaundice and hemolytic anemia due to hemolytic disease of the newborn who tolerated the treatment well. To our knowledge, this is the first case to report the safety of this novel treatment for an SMA patient with alloimmune HDN.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"200-203"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeuropediatricsPub Date : 2025-06-01Epub Date: 2024-12-16DOI: 10.1055/a-2502-6417
Nina Scholtes, Evelyn Jelesch, Paul Diesener, Johannes C Stoffels, Thomas M K Völkl
{"title":"Swallowing Assessment in a Pediatric Case of Allan-Herndon-Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing.","authors":"Nina Scholtes, Evelyn Jelesch, Paul Diesener, Johannes C Stoffels, Thomas M K Völkl","doi":"10.1055/a-2502-6417","DOIUrl":"10.1055/a-2502-6417","url":null,"abstract":"<p><p>Patients with MCT8 deficiency often present with underweight and are prone to frequent pulmonary infections, including aspiration pneumonia. Despite commonly reported swallowing difficulties in this population, specific dysphagia symptoms have not been well-documented. We conducted a flexible endoscopic evaluation of swallowing (FEES) on a young boy diagnosed with MCT8 deficiency, who exhibited recurrent pulmonary infections and failed to achieve substantial weight gain despite an oral energy intake appropriate for his age and height. The FEES revealed generally weakened swallowing mechanisms, characterized by prolonged swallow and cough sequences, along with penetration and aspiration of both fluid and semi-solid test boluses. Given the considerable effort associated with oral intake, we hypothesize that dysphagia contributes to his underweight status, alongside peripheral thyrotoxicosis. In conclusion, FEES proved to be an invaluable tool in identifying underlying swallowing impairments and assessing the need for gastrostomy in this patient. For MCT8 deficiency, patients presenting with underweight, frequent pulmonary infections, and swallowing difficulties, it is recommended that diagnostic evaluations include FEES to thoroughly assess their swallowing function and airway protection.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"204-207"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}