Salma Z. El Houchi, Shahenda S. Ismail, E. Elmazzahy
{"title":"Own Mother's Milk Protects against Necrotizing Enterocolitis, Sepsis and Poor Outcome of Preterm Infants.","authors":"Salma Z. El Houchi, Shahenda S. Ismail, E. Elmazzahy","doi":"10.21608/cupsj.2022.141694.1057","DOIUrl":"https://doi.org/10.21608/cupsj.2022.141694.1057","url":null,"abstract":"","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129615525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. ElGindy, Mohamed Mohamed, M. Kotb, Zahraa Ezz ElDin, H. Hamdy, Mohamed A. Elmaghraby, W. Elnaggar
{"title":"Neonatal Auditory Screening is a Necessity in The Neonatal Intensive Care Unit: Single Center Study","authors":"H. ElGindy, Mohamed Mohamed, M. Kotb, Zahraa Ezz ElDin, H. Hamdy, Mohamed A. Elmaghraby, W. Elnaggar","doi":"10.21608/cupsj.2022.142685.1060","DOIUrl":"https://doi.org/10.21608/cupsj.2022.142685.1060","url":null,"abstract":": Background: Hearing impairment early in life interferes with normal healthy psychosocial, linguistic and educational development. Neonatal morbidities might be complicated by increased hearing impairment. Aim of the Work: To study the frequency of hearing loss among neonates with morbidities necessitating admission to neonatal intensive care units. Materials and Methods: This cross-sectional study involved screening of 250 neonate on day of discharge from Neonatal Intensive Care Unit (NICU), Children Hospital, Cairo University Hospitals, Egypt during 2020 using evoked otoacoustic emission (EOAE). Automated auditory brain stem response (AABR) was used as a confirmatory test for those who failed EOAE. Results: among the 250 neonates, 70 (28%) failed the screening by EOAE, and hearing loss was confirmed by AABR among 35(14%). Morbidity risk factors that contributed to hearing impairment was prematurity (p = 0.001), low birth weight (p = 0.003), low APGAR score at 1 and 5 minutes (p = 0.004), long NICU stay duration (p = 0.001), complications of pregnancy and delivery (p = 0.001 and p = 0.006 respectively), hypoxic ischemic encephalopathy (p = 0.001), intracranial hemorrhage (p = 0.001), meningitis (p = 0.003), mechanical ventilation for more than 5 days (p = 0.005), ototoxic drug use (p = 0.007) and hyperbilirubinemia at level of exchange transfusion (p = 0.001). Conclusion: EOAE and confirmatory AABR non- invasively and objectively detected 14% hearing loss among neonates admitted to NICU. Implementation of screening for hearing impairment among those with morbidity risk factors is a necessity to allow prompt diagnosis and early management of hearing loss. Level of Evidence of Study: IIB. ( 1 )","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116334785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anthropometric Measurements for Egyptian Preterms at Birth: Single Center Pilot Study","authors":"Amira M Sabry, A. Mostafa, Y. Mansi, E. Taher","doi":"10.21608/cupsj.2022.141175.1054","DOIUrl":"https://doi.org/10.21608/cupsj.2022.141175.1054","url":null,"abstract":": Background : Assessment of fetal growth is a major part of antenatal and perinatal care. It reflects the intrauterine environment quality. Developed countries seem to have larger fetuses than developing countries. Birth body length and head circumference (HC) of the newborn are crucial prognostic parameters in determining intrauterine growth. Aim of work : We aimed to pilot a study to determine whether Fenton charts are applicable to Egyptian preterms. Materials and Methods: This single-center cross-sectional pilot study included 2001 preterm newborns < 37 weeks gestational age. A single measurement of weight, length, and HC was measured at birth from preterms who were not born to diabetic mothers, or mothers with hypertension, do not have chromosomal or structural abnormalities, congenital cyanotic heart diseases, intrauterine growth retardation, and multiple births. We created anthropometric measurements curves using Lambda Mu Sigma (LMS) chart-maker Pro (version 2, 2006) and compared them with Fenton growth charts for preterms. Results: The weight percentiles of our studied preterms were similar to those of Fenton´s in all gestational ages. The 3 rd percentile of length among female preterms, and their 3 rd and 97 th percentiles for head circumference were significantly higher than Fenton’s data (p = 0.018). Only the 3 rd and 97th percentiles of HC measurements for our studied boys were significantly higher than Fenton’s measurements (p =0.031) and (p =0.016) respectively. Boys (n=1063) were heavier than girls (n= 983) (p = 0.003). Boys were taller than girls, and had bigger head circumference than girls (p = 0.009) and (p=0.000) respectively. Conclusion: Anthropometric measurements of our large studied cohort of preterms was in close agreement of the measurements of Fenton growth charts, apart from the larger head circumference encountered among our studied cohort. Fenton charts are applicable to Egyptian preterms. Egyptian curves of anthropometric measures of preterm infants at birth and their comparison with the established international charts for preterms (Fenton’s growth charts) are lacking. We aimed to pilot a study to determine whether Fenton charts are applicable to Egyptian preterms.","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125298689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Iman Abdelaziz, Rania Talaat, M. El-Baz, Hanan Khaled
{"title":"MCP-1-2518 A>G and CCR2-V64I Polymorphism in Pediatric Asthma: A Single Egyptian Center Study","authors":"Iman Abdelaziz, Rania Talaat, M. El-Baz, Hanan Khaled","doi":"10.21608/cupsj.2022.140056.1051","DOIUrl":"https://doi.org/10.21608/cupsj.2022.140056.1051","url":null,"abstract":": Background: CCL2 is a chemokine; also known as monocyte chemoattractant protein 1 (MCP-1) influences inflammation severity and reactive airway response through its interaction with its receptor CCR2-V64I. Single nucleotide polymorphism of MCP-1-2518 A/G gene increases the level of MCP-1 expression in response to inflammatory stimuli, in addition its receptor CCR2-V64I polymorphism is more common among subjects with asthma. Aim of the Work: To study genetic polymorphisms (MCP-1-2518) and (CCR2-V64I) in pediatric asthma and their effect on susceptibility and severity. Methods: We conducted a prospective hospital-based case-control study that included 48 children with asthma and 23 healthy control children recruited from outpatient clinics of New Children Hospital, Cairo University Hospitals, Cairo University, Egypt. MCP- 1 and CCR2-V64I gene mutation were detected by polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP). Results: A/G MCP-1-2518 polymorphism was significantly higher among asthma patients 23 (47.9% ) versus 4 (17.4%) in controls (p = 0.01), Among patients A/G MCP-1-2518 polymorphism was present in 7 (30.4%), 10 (43.5%), 6 (26.1%) of cases of mild, moderate and severe asthma respectively with no significant difference (p = 0.46). G/A CCR2-V64I polymorphism was found in 18 (18.8%) of asthma patients versus 7 (30.4%) in controls with no significant difference (p = 0.27), among patients polymorphism was found in 3 (33.3%), 4 (44.4%), 2 (22.2%) of cases of mild, moderate and severe asthma respectively (p = 0.71). Conclusion: In pediatric asthma MCP-1 (A/G -2518) polymorphism was significantly higher among asthma patients and might prove to increase asthma susceptibility, but its relation to asthma severity could not be confirmed. CCR2-V64I polymorphism had no relation to asthma susceptibility nor severity in our studied group of patients. Further analyses should be carried out on larger population-based studies.","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"71 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126399232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. A. Ibrahim, F. Mostafa, Gehan Hussein Ahmed, M. Abd El Rahman, S. Elmahdy, Hanan Khaled
{"title":"Exercise Limitation in Children after Tetralogy of Fallot Repair Is Not related to Right Ventricular Dysfunction: Single Egyptian Center Experience","authors":"L. A. Ibrahim, F. Mostafa, Gehan Hussein Ahmed, M. Abd El Rahman, S. Elmahdy, Hanan Khaled","doi":"10.21608/cupsj.2022.140060.1052","DOIUrl":"https://doi.org/10.21608/cupsj.2022.140060.1052","url":null,"abstract":": Background: Tetralogy of Fallot (TOF) is one of the most prevalent cyanotic congenital heart diseases requiring surgery early in life. Aim of work: Exercise capacity and right ventricular diastolic dysfunction in children after TOF repair. Methods: Cross sectional descriptive study was conducted on 27 cases with TOF after total surgical repair. Cases were subjected to 12 leads ECG, chest X-ray, 6-minute walking test (6MWT) to assess the exercise capacity and transthoracic color Doppler echocardiography with assessment of right ventricle myocardial performance index (RVMPI) and pulmonary regurgitation index (PRi). Results: The mean ± SD age of the our studied was TOF patients 6.59 ± 1.80 years. The mean ± SD age at operation was 2.46 ± 0.95 years. All had dilated right ventricle (right ventricle dilatation index RVDi > 0.5), and moderate to severe pulmonary regurge (PR) estimated by PRi (PRi <0.77). Impaired RVMPI (>0.32) was found in 6 (22%) patients. Exercise capacity measured by 6-MWT was significantly reduced compared to the normal population of the same age group (p= 0.001). Results of 6-MWT did not correlate with the RVMPI (p= 0.44, r= -0.077), the PRi (p= 0.83, r=0.006), QRS (p=0.31, r=0.066), or corrected QT interval (p=0.89, r= 0.169). Conclusion: Exercise capacity was limited in our TOF patients after surgical repair, that was not related to right ventricular diastolic dysfunction as it did not correlate with RVMPI, degree of PR, QRS duration, nor corrected QT interval.","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134352323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. ElGindy, M. Kotb, M. Mohamed, W. Abuelhamd, Alsabagh Nahed, Nancy H. Anis, Aly Elkazaz
{"title":"Non- Disjunction of Chromosome 21 in the Young Mother at Conception","authors":"H. ElGindy, M. Kotb, M. Mohamed, W. Abuelhamd, Alsabagh Nahed, Nancy H. Anis, Aly Elkazaz","doi":"10.21608/cupsj.2022.143027.1063","DOIUrl":"https://doi.org/10.21608/cupsj.2022.143027.1063","url":null,"abstract":": Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21. Aim of the Work: To study the cytogenetics of children with Down syndrome born to the young mother who presented to Pediatrics Genetics Unit at Cairo University Children Hospital during one year (2019), and compare with those born to an older mother. Materials and Methods: This descriptive retrospective study analyzed records of 210 children with Down syndrome who presented to Pediatrics Genetics Unit at Cairo University Children Hospital during 2019. Results: Among the total 210 studied children with Down syndrome, 21(10%) were born to young mothers aged 21 years or less at conception. Seven (33.34%) were males and 14 (66.6%) were females. Twenty (95.2%) were first born to a young mother, only 1 was a second born. Karyotyping proved that 6 (28.6%) had Robertsonian translocation of trisomy 21, and 15 (75.4%) had non-disjunction. Only 1 (4.76%) of children born to younger mothers had associated cardiac anomalies, while among those born to the older mother 40 (21%) had associated anomalies, of them were cardiac 36 (19.04%), hydrocephalus in one (0.5%), and ambiguous genitalia in 3 (1.58%) (p=0.072). First born trisomy 21 were 109 (51.9%) among the whole studied cohort, with a mean maternal age +/- SD of 30.2 years +/- 7.35 years, their karyotyping was non-disjunction, Robertsonian translocation and mosaic in 100, 5 and 3 respectively. Cardiac anomalies were encountered among 18 (16.5%). Conclusion: Children born with trisomy 21 to mothers younger than 21 at conception are mostly due to non-disjunction. First born children with trisomy 21 comprised half the studied cohort of trisomy 21. Further studies to define preventable causes of non-disjunction in the young mother, are needed to reduce the incidence of Down syndrome.","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"201 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134443645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aly Elkazaz, H. Bazaraa, Doaa M. Salah, Ahmed R El Nahas, Shaimaa Sayed
{"title":"Acute Kidney Injury In Children Admitted In Pediatric Intensive Care Unit","authors":"Aly Elkazaz, H. Bazaraa, Doaa M. Salah, Ahmed R El Nahas, Shaimaa Sayed","doi":"10.21608/cupsj.2022.128890.1047","DOIUrl":"https://doi.org/10.21608/cupsj.2022.128890.1047","url":null,"abstract":": Background: Acute kidney injury (AKI) poses a significant burden for the society, in terms of health resource use during the acute phase, and the potential long-term sequelae including development of chronic kidney disease and kidney failure. Aim of the work: to investigate the risk of development of AKI in critically ill children. Material and methods: A cohort study conducted on 60 critically ill children admitted at pediatric intensive care unit (PICU). They were divided into two groups according to hemodynamic stability. Cardiovascular parameters together with criteria for AKI were observed during the first 5 days of PICU admission. AKI was diagnosed based on Acute Kidney Injury Network criteria. Results: From all critically ill included patients (60 patients); thirty four patients developed AKI (56.6%). Frequency of AKI was significantly more in hemodynamically unstable than stable patients 22 (73%) versus 12 (40%) (p=0.018). AKI was strongly associated with decreased baseline systolic and diastolic blood pressure percentiles (p=0.04) and (p=0.049), increased doses and duration of inotropic support determined by vasoactive inotropic score (p=0.002) and (p=0.013) respectively, higher base deficit in baseline blood gases (p=0.002), multiple organ dysfunctions (p<0.001) and exposure to nephrotoxic agents (p=0.036). Conclusion: AKI is a common morbidity among hemodynamically unstable critically ill children. AKI is strongly associated with initial hypotension on admission, increased doses and longer duration of inotropic support, increased base deficit in initial blood gases evaluation, multiple organ dysfunctions and exposure to nephrotoxic agents. CNS: nervous CVP: venous pressure; diastolic arterial blood pressure; ICU: intensive care INR: International normalized ratio; IQR: inter-quartile range; MAP: mean arterial blood pressure; mechanical ventilation; PC: prothrombin concentration; PICU: pediatric intensive care unit; PT: prothrombin time; ROC: receiver operating characteristic RRT: renal replacement therapy; SBP: systolic arterial pressure; ScvO2: central venous oxygenation saturation; SD: standard deviation; SV: volume; SVR: systemic vascular resistance; SVRI: systemic vascular resistive index; SVV: stroke volume variability; TFC: thoracic fluid content; UOP: urine output; VIS: vasoactive inotropic score. The current cohort study aimed to investigate the association between systemic hemodynamic indices and the risk of development or progression of AKI in 60 critically ill children. Thirty four patients (56%) developed AKI. The percent of patients who developed AKI in the hemodynamically unstable group was significantly higher than that in stable group (73.3% versus 40% with p=0.018). Our rate of AKI among critically ill children is similar to others; who reported AKI in (50.3%) of the patients upon PICU admission based on AKIN criteria ( 23 ). On the other hand; lower incidence was reported in a large multinational study of the epidem","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127143272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Kotb, F. Mostafa, A. Badr, Aya Hegazy, Mohamed Eid, N. Sabry, Radwa A. Shamma
{"title":"Structural and Functional Cardiac Changes in Children with Wilson Disease","authors":"M. Kotb, F. Mostafa, A. Badr, Aya Hegazy, Mohamed Eid, N. Sabry, Radwa A. Shamma","doi":"10.21608/cupsj.2021.71046.1018","DOIUrl":"https://doi.org/10.21608/cupsj.2021.71046.1018","url":null,"abstract":"Background: Wilson disease (WD) is an autosomal recessive disease with copper overload. Its clinical picture depends on specific tissue/system damage by the excess copper. Aim of the work: We aimed to study prospectively the phenotypic spectrum of structural and functional cardiac changes among children with WD. Methods: 16 children with confirmed WD underwent electrocardiography (ECG), conventional and tissue Doppler echocardiography. Results: ECG was normal in 11 patients (68.7%), inverted T was detected in 2 (12.5%), ST elevation in 2 (12.5%) while P-pulmonale and inverted T were detected in 1 (6.25%). Five patients (31.25%) had mild and one (6.25%) had severe tricuspid regurgitation. Two girls (12.5%) with WD had underlying congenital heart defects, one had atrial septal defect (ASD) and another had double inlet left ventricle (DILV), malposed great vessels and severe pulmonary stenosis. There was a positive correlation between LV mass and duration of treatment (r=0.559, p=0.030), and a negative correlation between age of onset and LV mass index (r=0.600, p=0.018). There was no significant correlation between age of onset and duration of treatment with myocardial perfusion imaging (MPI) or tissue Doppler parameters. Conclusion: WD in children is associated with cardiac structural and functional changes including congenital structural heart malformations; ASD and DILV. Future research is needed to verify if ASD and DILV in WD are embryonic presentations of copper overload in WD. Level of Evidence of Study: IIB (1).","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"90 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120836973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Kotb, L. Hassan, A. Tamer, Hend Abushady, Esraa A Mohamed, A. Aly
{"title":"Sarcoidosis in a Toddler: A Rare Presentation","authors":"M. Kotb, L. Hassan, A. Tamer, Hend Abushady, Esraa A Mohamed, A. Aly","doi":"10.21608/cupsj.2021.109666.1042","DOIUrl":"https://doi.org/10.21608/cupsj.2021.109666.1042","url":null,"abstract":"Sarcoidosis is rare multi-system granulomatous inflammatory disorder. It is reported to present by two distinct presentations in childhood. Sarcoidosis presents in the second decade of life by pulmonary infiltration, lymphadenopathy and hepatosplenomegaly, and rarely before the age of 4 years by typical triad of uveitis, rash and arthritis. We report a child 1 year and 9 months with sarcoidosis who presented by one month fever, hepatosplenomegaly, uveitis, pulmonary infiltration and elevated levels of angiotensin-converting enzyme. Chest computerized tomography revealed multiple enlarged mediastinal and multiple hilar lymphadenopathy. A right inguinal lymph node biopsy showed non-caseating granuloma. Other etiologies were investigated for and ruled out. Hence, sarcoidosis can present in children before 4 years with uveitis, hepatosplenomegaly, pulmonary infiltrates, mediastinal and hilar lymphadenopathy, in the absence of rash and arthritis. Sarcoidosis in children is rare and clinical spectrum can vary considerably. Diagnosis of sarcoidosis should be suspected in any child with uveitis. Level of Evidence of Study: IV (1).","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122374265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Mansour, M. Kotb, Ezzat El Sobkyb, L. Tarek, Walaa El Naggar, M. Kamel
{"title":"Ataxia Telangiectasia: A Single Center Experience in a Decade","authors":"L. Mansour, M. Kotb, Ezzat El Sobkyb, L. Tarek, Walaa El Naggar, M. Kamel","doi":"10.21608/cupsj.2021.107952.1039","DOIUrl":"https://doi.org/10.21608/cupsj.2021.107952.1039","url":null,"abstract":"Background: Ataxia Telangiectasia (A-T) is a rare neurodegenerative disorder that affects a number of different systems of the body. Aim of the work: To identify the spectrum of clinical presentations of children with A-T. Methods: Retrospective cohort study of data of 35 children with confirmed diagnosis of A-T. Results: A-T clinical spectrum was diverse with two distinct presentations according to age of onset of symptoms; classic early onset among 29 (82%) (mean age± SD= 2.9 ± 0.63 years) and variant late in 6 (17%) (mean age± SD=9.83 ± 1.34 years). In early onset A-T the leading presentations were classic; ataxia in 100%, telangiectasis (100%), dysarthria (62%), cerebellar atrophy (58%), repeated sinopulmonary infections (48%), autoimmune vitiligo in one child, but not peripheral neuropathy or postural scoliosis. While among those with late onset A-T, the leading presentations were extrapyramidal manifestations and dystonia in (66.6%), late development of ataxia (100%), telangiectasis (50%), dysarthria (66.6%), repeated sinopulmonary infections (16.6%), cerebellar atrophy (16.6%) and peripheral neuropathy (50%). All 35 (100%) had elevated alfa fetoprotein, 74% had reduced IgE levels and 68% had reduced IgA levels. Acute lymphoblastic leukemia (ALL) complicated the course of 17.2% and 16.6% of early and variant late onset A-T respectively, and preceded the onset of ataxia among 50% of affected cases. Conclusion: Ataxia telangiectasia is a rare neurologic disease with various clinical presentations. A-T clinical spectrum is diverse with two distinct presentations according to age of presentation: classic early onset and variant late onset. Immune dysregulation is more pronounced among the early onset group. ALL might be the initial presentation of A-T that precedes the onset of ataxia and of telangiectasis. Level of Evidence of Study: IIB (1).","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124579755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}