Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Thyroid volume in Turkish school-age children living in an iodine-sufficient region.","authors":"Reyhan Deveci Sevim, Mustafa Gök, Sercan Öztürk, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık","doi":"10.1515/jpem-2023-0442","DOIUrl":"10.1515/jpem-2023-0442","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to obtain local normative data on thyroid volume evaluated by ultrasonography and iodine status by measuring urine iodine levels in school-age children living in Aydın province.</p><p><strong>Methods: </strong>In this cross-sectional study, a sample comprising 1,553 cases was meticulously selected from a total cohort of 170,461 children aged 6-17, drawn from 21 distinct educational institutions located within the Aydın region, as participants in the investigation. Those with a known chronic disease or thyroid disease were excluded from the study. The children underwent physical examinations and ultrasonography imaging of the thyroid gland, and urine samples were collected to measure urinary iodine concentration (UIC).</p><p><strong>Results: </strong>The median UIC was 189.5 (IQR=134.4) μg/L, which was optimal according to WHO criteria. Thyroid volume was found to be 4.6 (IQR=3.5) mL in girls and 4.2 (IQR=4.0) mL in boys (p=0.883). The thyroid volumes in our study were found to be smaller when compared to the WHO. According to WHO age and body surface area criteria, thyroid volume was over 97 % in 0.9 % (n=15) of cases. Thyroid volume was found to have a positive correlation with age, height, weight, body mass index (BMI), and body surface area (BSA) in both genders (p<0.001). However, there was no significant correlation between thyroid volume and UIC.</p><p><strong>Conclusions: </strong>This cross-sectional study provides normative data on thyroid volume and iodine status in school-age children in iodine-sufficient population, revealing a low prevalence of goiter and correlations between thyroid volume and anthropometric measures.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"228-235"},"PeriodicalIF":1.4,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747643","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}

{"title":"Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.","authors":"Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A Yatsenko, Luigi R Garibaldi","doi":"10.1515/jpem-2023-0070","DOIUrl":"10.1515/jpem-2023-0070","url":null,"abstract":"<p><strong>Objectives: </strong>To report an unusual case of MCT8 deficiency (Allan-Herndon-Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities.</p><p><strong>Case presentation: </strong>A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI). Cytogenetic analysis demonstrated balanced t(X;16)(q13.2;q12.1) translocation with a breakpoint disrupting SLC16A2. X-chromosome inactivation studies revealed a skewed inactivation of the normal X chromosome.</p><p><strong>Conclusions: </strong>MCT8-deficiency can manifest clinically and phenotypically in women with SLC16A2 aberrations when nonrandom X inactivation occurs, while lack of X chromosome integrity due to translocation can cause POI.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"371-374"},"PeriodicalIF":1.4,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724774","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}

{"title":"Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study.","authors":"Hou-Fang Kuang, Wen-Liang Lu","doi":"10.1515/jpem-2023-0425","DOIUrl":"10.1515/jpem-2023-0425","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study was to develop and evaluate the efficacy of a nomogram for predicting lung metastasis in pediatric differentiated thyroid cancer.</p><p><strong>Methods: </strong>The SEER database was utilized to collect a dataset consisting of 1,590 patients who were diagnosed between January 2000 and December 2019. This dataset was subsequently utilized for the purpose of constructing a predictive model. The model was constructed utilizing a multivariate logistic regression analysis, incorporating a combination of least absolute shrinkage feature selection and selection operator regression models. The differentiation and calibration of the model were assessed using the C-index, calibration plot, and ROC curve analysis, respectively. Internal validation was performed using a bootstrap validation technique.</p><p><strong>Results: </strong>The results of the study revealed that the nomogram incorporated several predictive variables, namely age, T staging, and positive nodes. The C-index had an excellent calibration value of 0.911 (95 % confidence interval: 0.876-0.946), and a notable C-index value of 0.884 was achieved during interval validation. The area under the ROC curve was determined to be 0.890, indicating its practicality and usefulness in this context.</p><p><strong>Conclusions: </strong>This study has successfully developed a novel nomogram for predicting lung metastasis in children and adolescent patients diagnosed with thyroid cancer. Clinical decision-making can be enhanced by assessing clinicopathological variables that have a significant predictive value for the probability of lung metastasis in this particular population.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"250-259"},"PeriodicalIF":1.4,"publicationDate":"2024-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708328","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}

{"title":"Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.","authors":"Ayşenur Engin Erdal, Burak Yürek, Oya Kıreker Köylü, Ahmet Cevdet Ceylan, Ayşegül Neşe Çıtak Kurt, Çiğdem Seher Kasapkara","doi":"10.1515/jpem-2023-0481","DOIUrl":"10.1515/jpem-2023-0481","url":null,"abstract":"<p><strong>Objectives: </strong>The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. <i>FA2H</i> gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation.</p><p><strong>Case presentation: </strong>A patient with a spastic gait since age seven was admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11 months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C>T missense variant in the <i>FA2H</i> gene, of which her parents were heterozygous carriers. A brain MRI showed a slight reduction in the cerebellar volume with no iron deposits.</p><p><strong>Conclusions: </strong>Pathogenic variants of the <i>FA2H</i> gene have been linked to neurodegeneration with iron accumulation in the brain, leukodystrophy and SPG35. When patients developed progressive gait deterioration since early childhood even if not exhibited hypointensity in the basal ganglia detected by neuroimaging, <i>FA2H</i>-<i>related</i> neurodegeneration with brain iron accumulation should be ruled out. FA2H/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"271-275"},"PeriodicalIF":1.4,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730845","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}

{"title":"Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.","authors":"Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Pérez de Nanclares Leal, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz","doi":"10.1515/jpem-2023-0454","DOIUrl":"10.1515/jpem-2023-0454","url":null,"abstract":"<p><strong>Objectives: </strong>Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up.</p><p><strong>Case presentation: </strong>Clinical suspicion was based on obesity, TSH resistance and ectopic ossifications which appeared several months before PTH resistance, at almost 3 years of age. Treatment with levothyroxine, calcitriol and calcium was required in both patients. DNA sequencing of GNAS gene detected a heterozygous pathogenic variant within exon 7 (c.569_570delAT) in patient one and a deletion from XLAS to GNAS-exon 5 on the maternal allele in patient 2. In patient 1, ectopic ossifications that required surgical excision were found. Noticeably, patient 2 displayed adult short stature, intracranial calcifications and psychomotor delay. In terms of weight, despite early diagnosis of obesity, dietary measures were established successfully in both cases.</p><p><strong>Conclusions: </strong>GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"289-295"},"PeriodicalIF":1.4,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730844","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}

{"title":"A case report of odonto-hypophosphatasia with a novel variant in the <i>ALPL</i> gene.","authors":"Yuji Oto, Daiki Suzuki, Tsubasa Morita, Takeshi Inoue, Akihisa Nitta, Nobuyuki Murakami, Yuuka Abe, Yoshinobu Hamada, Tomoyuki Akiyama, Tomoyo Matsubara","doi":"10.1515/jpem-2023-0549","DOIUrl":"10.1515/jpem-2023-0549","url":null,"abstract":"<p><strong>Objectives: </strong>Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the <i>alkaline phosphatase</i> (<i>ALPL</i>) gene. More than 400 pathogenic variants of the <i>ALPL</i> gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel <i>ALPL</i> variant.</p><p><strong>Case presentation: </strong>At the age of 2 years and 1 month, he prematurely lost one deciduous tooth, with the root intact, when he fell and hit his face lightly. Three months later, he lost another adjacent deciduous tooth without incentive. His serum alkaline phosphatase (ALP) level was 72 U/L. His urine phosphoethanolamine (PEA) level was extremely high at 938 μmol/mg·Cre. The serum pyridoxal 5'-phosphaye (PLP) level was 255.9 nmol/L. Based on the clinical symptoms and laboratory findings, the patient was clinically diagnosed with odonto-HPP. Genetic analysis of the <i>ALPL</i> gene revealed a heterozygous variant (NM_000478.6:c.1151C>A, p.Thr384Lys).</p><p><strong>Conclusions: </strong>We report a case of odonto-HPP with a novel variant in the <i>ALPL</i> gene. HPP is a rare disease, and the heterozygous mutation in the <i>ALPL</i> gene highlights the novelty of this case.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"276-279"},"PeriodicalIF":1.4,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681832","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}

{"title":"Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.","authors":"Gülreyhan Sonuç Kartal, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2023-0490","DOIUrl":"10.1515/jpem-2023-0490","url":null,"abstract":"<p><strong>Objectives: </strong>Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the <i>COQ4</i> gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding of the clinical and laboratory manifestations of the disease.</p><p><strong>Case presentation: </strong>A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the <i>COQ4</i> gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T>G (p.Phe146Cys), in the <i>COQ4</i> gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Primary Coenzyme Q10 Deficiency-7). A 1-year-old male was admitted to our clinic with complaints of hypotonia, seizures, and feeding difficulties. He was born following an uneventful pregnancy to a nonconsanguineous marriage. On his first day of life, he was admitted to the neonatal intensive care unit due to poor feeding and hypotonia. A physical examination revealed microcephaly, a high palate, poor feeding, weak crying, hypotonia, bilateral horizontal nystagmus, and inability to maintain eye contact. Laboratory findings were within normal limits, while a whole exome sequencing analysis revealed a homozygous variant previously reported as pathogenic, c.458C>T (p.A153V), in the <i>COQ4</i> gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.</p><p><strong>Conclusions: </strong>Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"260-270"},"PeriodicalIF":1.4,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730846","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}

{"title":"A new onset drug induced diabetes mellitus presenting with diabetic ketoacidosis in a child undergoing treatment for B cell acute lymphoblastic leukemia. A case report and review of literature.","authors":"Preeti Sharma, Varuna Vyas, Siyaram Didel, Kuldeep Singh","doi":"10.1515/jpem-2023-0443","DOIUrl":"10.1515/jpem-2023-0443","url":null,"abstract":"<p><strong>Objectives: </strong>Hyperglycemia is a known side effect of anticancer chemotherapeutic drugs. This entity known as drug-induced diabetes mellitus usually does not present with the development of diabetic ketoacidosis (DKA). We hereby report a case of drug induced diabetes mellitus in a child with acute leukemia presenting with DKA.</p><p><strong>Case presentation: </strong>We report a case of a teenage boy diagnosed with B cell acute lymphoblastic leukemia and was started on induction phase chemotherapy as per the Indian Collaborative Childhood Leukemia group (ICICLe) acute lymphoblastic leukemia-14 protocol. On day 12 of the induction phase, he developed hyperglycemia and presented to us with severe diabetic ketoacidosis (DKA). Serum anti glutamic acid decarboxylase 65 antibody levels were negative with low serum C peptide levels. Initially, the possibility of drug-induced acute pancreatitis was kept which was ruled out. Keeping the possibility of drug-induced hyperglycemia, the child was started on subcutaneous regular insulin which was titrated as per sugar records. Continuation of remaining chemotherapy was done by PEGylated L-asparaginase with titration of insulin as per home-based sugar records. Insulin requirement increased from 0.3 unit/kg/day to a maximum of 1 unit/kg/day during consolidation phase 1 with PEGylated L-asparaginase suggesting drug-induced hyperglycemia but subsequently insulin requirement decreased and insulin was stopped.</p><p><strong>Conclusions: </strong>Drug induced diabetes mellitus can present as DKA during induction phase of acute lymphoblastic leukemia (ALL) chemotherapy. A high index of suspicion and close monitoring are required. The insulin requirements in these patients can be very fluctuant and may become nil during the course of treatment.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"367-370"},"PeriodicalIF":1.4,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571916","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}

{"title":"Hypothyroxinemia and weight velocity in preterm infants.","authors":"Meira Zibitt, Brittany Ange, Zanna Wynter, Cynthia Mundy, Steve Herrmann, Brian K Stansfield","doi":"10.1515/jpem-2023-0496","DOIUrl":"10.1515/jpem-2023-0496","url":null,"abstract":"<p><strong>Objectives: </strong>Hypothyroxinemia of prematurity (HOP) is characterized by low free thyroxine (FT4) associated with low or normal thyroid stimulating hormone (TSH). The objective of this study is to define FT4 and TSH values in very preterm infants (<32 weeks postmenstrual age, PMA) and correlate hypothyroxinemia and levothyroxine treatment with growth velocity at 28 days and 36 weeks PMA.</p><p><strong>Methods: </strong>Preterm neonates <32 weeks PMA admitted to the regional neonatal intensive care unit (NICU) at the Children's Hospital of Georgia (USA) between January 2010 and July 2022 were routinely screened for hypothyroxinemia. FT4 and TSH values were obtained on 589 eligible neonates between day of life (DOL) 4 and 14. Growth velocity (g/kg/day) from DOL 14 to DOL 28 and 36-weeks PMA were calculated for each neonate and potential explanatory variables (PMA, sex, and race) were incorporated into multivariate regression models to identify associations between HOP and growth velocity.</p><p><strong>Results: </strong>In 589 preterm infants, PMA at birth was strongly associated inversely with FT4 (R=0.5845) and modestly with TSH (R=0.2740). Both FT4 and gestational age, but not TSH or levothyroxine treatment, were associated with growth velocity at 28 days of life and at 36 weeks PMA.</p><p><strong>Conclusions: </strong>We provide a large data set for identifying FT4 and TSH measurements and identify hypothyroxinemia of prematurity as a potential mediator of slow postnatal growth in very preterm infants.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"236-242"},"PeriodicalIF":1.4,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571917","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}

{"title":"Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in <i>GRN</i> gene: case report and review of literature.","authors":"İlknur Sürücü Kara, Engin Köse, Büşranur Çavdarlı, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2023-0411","DOIUrl":"10.1515/jpem-2023-0411","url":null,"abstract":"<p><strong>Objectives: </strong>Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. We present herein a case of NCL11 in a patient diagnosed with neuromotor developmental delay, epilepsy, bronchiolitis obliterans and hypothyroidism.</p><p><strong>Case presentation: </strong>A 4-year-old male patient was admitted to our clinic with global developmental delay and a medical history that included recurrent hospitalizations for pneumonia at the age of 17 days, and in months 4, 5 and 7. Family history revealed a brother with similar clinical findings (recurrent pneumonia, hypothyroidism, hypotonicity, swallowing dysfunction and neuromotor delay) who died from pneumonia at the age of 22 months. Computed tomography of the thorax was consistent with bronchiolitis obliterans, while epileptic discharges were identified on electroencephalogram with a high incidence of bilateral fronto-centro-temporal and generalized spike-wave activity but no photoparoxysmal response. Cranial MRI revealed T2 hyperintense areas in the occipital periventricular white matter and volume loss in the white matter, a thin corpus callosum and vermis atrophy. A whole-exome sequencing molecular analysis revealed compound heterozygous c.430G>A (p.Asp144Asn) and c.415T>C (p.Cys139Arg) variants in the GRN gene.</p><p><strong>Conclusions: </strong>The presented case indicates that NCL11 should be taken into account in patients with epilepsy and neurodegenerative diseases.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"280-288"},"PeriodicalIF":1.4,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139522320","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}