Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj <p>Pakistan Pediatric Journal is, a peer reviewed, official publication of The Pakistan Pediatric Association. It was decided in the second biennial conference of Pakistan Pediatric Association (Centre) held at Lahore in 1976 to publish the Pakistan Pediatric Journal from Lahore, Pakistan. The first issue was published in 1977 as Pakistan Pediatric Journal, ISSN No.0304-4904. Since then, the journal has been published without interruption on quarterly basis. This journal covers clinical and research work on all aspects of the health of children and adolescents. The manuscripts are categorized as original research articles, review articles, case reports, short communication and special feature articles in the field of pediatrics. The official language of Pakistan Pediatric Journal is English [American (US) English]. The journal is distributed to all members of The Pakistan Pediatric Association, medical colleges, libraries and related institutes locally and abroad.</p> <p>Prof. SMK Wasti was the first Chief Editor of the Journal and from 1977, he continued till March 1993. During his tenure, he guided and trained the team with his wisdom, experience, dedication and commitment to improve the child health services on national level. Thus he put the journal on sound footing. Prof. S M Haneef took over as the Chief editor from Prof. SMK Wasti in April 1993 and continued till December 2003. He also followed the footstep of Prof. SMK Wasti. He also by his academic and clinical expertise not only trained his team but also saw the journal to grow and sustain. Prof. Said ul Haque was appointed Chief Editor in March 2004. Prof. Said ul Haque was associated with Pakistan Pediatric Journal since 1978 in various capacities, as Senior Bibliographer; Managing Editor, and Editor before becoming the Chief Editor. He was instrumental in getting indexation in various national and international indexation agencies of repute including EMBASE/Excerpta Medica, etc. Prof. Muhammad Ashraf Sultan was associated with journal since 2004 as Managing Editor. After the death of Prof Said ul Haque in 2015 Prof. Sajid Maqbool was appointed as the Chief Editor and Prof. Humayun Iqbal Khan as the Managing Editor. Mr. Nazir Ahmad is associated with journal since 1989 as office secretary.</p> en-US pakpeadjournal@gmail.com (Prof. Dr. Tahir Masood Ahmad) pakpeadjournal@gmail.com (Nazir Ahmed) Fri, 28 Jun 2024 00:00:00 +0000 OJS 3.3.0.8 http://blogs.law.harvard.edu/tech/rss 60 URINARY TRACT INFECTION AMONG NEONATES PRESENTING WITH SEPSIS http://ppj.org.pk/index.php/ppj/article/view/132 <p>Neonatal sepsis is a life threatening condition which could leads to multiple organ failure.&nbsp; Urinary tract infection is a common comorbidity noted in neonates with sepsis which may be asymptomatic or have non-specific symptoms. Previous data shows that neonatal urinary tract infection may be the possibility in absence of congenital anomalies. But the frequency is not clearly known in our neonatal population.</p> Zenab Aziz, Anwaar Basheer, Sultan Ali, Amer Naseer, Salma Saleem, Nayyab Butt Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/132 Mon, 12 Aug 2024 00:00:00 +0000 Effects of Proprioceptive Training in Addition to Routine Physical Therapy on Gross Motor Function in Children with Spastic Quadriplegic Cerebral Palsy: A Randomized Controlled Trial http://ppj.org.pk/index.php/ppj/article/view/237 <p><strong>Objective:</strong> To compere the effects of proprioceptive training in addition to routine physical therapy on gross motor function in children with spastic quadriplegic cerebral palsy.</p> <p><strong>Study Design: </strong>&nbsp;Randomized Controlled Trial.</p> <p><strong>Place and Duration of Study: </strong>Pediatric Physical Therapy &amp; Adult Neuro Rehabilitation Department, University of Lahore Teaching Hospital Lahore, Pakistan from May, 2021 – November, 2021</p> <p><strong>Material and Methods: </strong>A sample of 52 spastic quadriplegic CP children who were alert and responsive to verbal commands with GMFCS level IV and V were allocated in two equal groups. Both groups received daily therapy for 5 days a week consisting of stretching followed by positioning and therapeutic techniques to facilitate movement patterns, while participants in treatment group received additional proprioceptive training for 20 minutes. The assessment was made using GMFM-88.</p> <p><strong>Results: </strong>Data was analyzed using spss. There was statistically significant difference between two groups. Gross motor function significantly improved in treatment group (p&lt;0.05). However, improvement in control group was not that statistically significant. (p&gt;0.05).</p> <p><strong>Conclusion: </strong>Proprioceptive training when combined with routine physical therapy, aids to achieve physical milestones. Overall gross motor function significantly improves in those spastic quadriplegic cerebral palsy children who received proprioceptive training along with their routine physical therapy treatment.</p> <p><strong>Keywords:</strong> Proprioceptive Training, Cerebral Palsy, Spastic Quadriplegia</p> Muhammad Jawad, Ashfaq Ahmad, Samia Sarmad, Wardah Rauf, Safa Saleem., Kamran Hanif Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/237 Mon, 12 Aug 2024 00:00:00 +0000 To determine anemia as an independent risk factor for incidence and severity of retinopathy of prematurity. http://ppj.org.pk/index.php/ppj/article/view/295 <p><strong>Abstract</strong></p> <p><strong>Objective</strong>: To evaluate the effect of anemia as an independent risk factor on incidence and severity of retinopathy of prematurity (ROP).</p> <p><strong>Method:</strong> The prospective observational study was conducted at the Pediatric department of Hameed Lateef Hospital, Lahore after obtaining informed consent. A total of 150 premature infants between 28 to 36+6 weeks of gestation were included. A hemoglobin concentration less than 12g/dl for premature infants born between 28 to 34 weeks of gestation and less than 10 g/dl for newborns born between 35 to 36+7 weeks of gestation was taken significant. Hemoglobin levels were measured within the first 48 hours after birth and at 04-weeks age to ensure accurate assessment of anemia status. Infants with significant congenital abnormalities or syndromes unrelated to anemia prematurity were excluded. Keeping the confidence interval 80% and a margin of error of 5% data was analyzed using SPSS 20 software. Logistic regression performed to analyze association between the risk of anemia and ROP.</p> <p><strong>Results</strong>: The sample consisted of total 150 premature infants including 62 females (41.3%) and 87 males (58.7%). The average birth weight was 1.65 (SD = 0.51). The mean Hb was 14.106 (SD= 3.25). Mean age of all the patients was 30.51 ± 11.57 days. Mean gestational age was 32.02 ± 2.15 weeks. Only 33 (22.0%) of the cases were anemic. ROP was present in 58 (38.7%) of the study population (Table 3). Out of ROP (Table-4), Zone 1 was involved in 25 (43.1%), Zone 2 was involved in 18 (31.0%), and Zone 3 was involved in 15 (25.9%). On simple linear regression analysis, anemia was an independent risk factor for incidence of retinopathy of prematurity (R<sup>2</sup> = 0.115, F = 19.140, p &lt;0.001). However, anemia was not an independent risk factor for the zone involved in retinopathy of prematurity (R<sup>2</sup> = 0.007, F = 0.410, p = 0.524).</p> <p><strong>Conclusion</strong>: The study concludes that anemia is an independent risk factor for incidence and severity of retinopathy of prematurity in preterm neonates between 48 hours to 4 weeks of life.</p> <p><strong>Key words</strong>: Anemia, Retinopathy of prematurity, Gestational age, low birth weight</p> Sabika Iftikhar, Sajjad Rafique, Khurram Azam Mirza, Saad Ur Rehman Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/295 Mon, 12 Aug 2024 00:00:00 +0000 Response of Antiretroviral Treatment (ART) in Pediatric Patients Registered at HIV Center at a Tertiary Care Public Sector Hospital. http://ppj.org.pk/index.php/ppj/article/view/311 <p><strong>Objective:</strong></p> <p>To determine the response of antiretroviral treatment (ART) in terms of outcome in pediatric HIV patients<strong>.</strong></p> <p><strong>Study Design: </strong>Retrospective observational study</p> <p><strong>Place and duration:</strong> HIV treatment Center at Pediatric Unit II, Dr. Ruth K. M. Pfau Civil Hospital, Karachi.</p> <p><strong>Methods:</strong></p> <p>All patients, 6 weeks to 18 years of age, registered at this center from 1<sup>st</sup> December 2010 to 31<sup>st</sup> June 2021 and diagnosed as HIV/ AIDS were included. Patients who expired or shifted to other center before 6 months of treatment and patients who received ARV prophylaxis for preventing Parent to Child Transmission (PTCT) were excluded from this analysis. The demographic and clinical characteristics were recorded and outcome was presented in terms of mortality. Data was entered and analyzed using SPSS version 21.</p> <p><strong>Results:</strong></p> <p>Out of a total of 346 HIV patients, n=194 (56.1%) were male. The mean age was 6.40 ± 3.98 years. Children mostly presented with pallor n=208 (60.1%) and weight loss n=136 (39.3%). Mother-child vertical transmission was the most common in n=263 (76.9%). Among the 291 children receiving ART for ≥6 months, the mortality rate was 22.3% (n=65). It was statistically correlated with viral load detected and malnutrition.</p> <p><strong>Conclusion:</strong></p> <p>Most of the children responded to ART highlighting the effectiveness of the treatment. However, rigorous case studies and problem-oriented approach should be undertaken in order to improve the overall treatment outcome of this deadly disease that has been grappling Sindh since many years.</p> Mohammad Iqbal Soomro, Yousuf Yahya, Ammarah Jamal, Iqbal Ahmed Memon, Sharmeen Nasir, Naheed Maher Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/311 Mon, 12 Aug 2024 00:00:00 +0000 Clinical Profile and Demographics of Childhood Disability: Insights from a Major Tertiary Care Hospital in Karachi, Pakistan http://ppj.org.pk/index.php/ppj/article/view/319 <h1><strong>ABSTRACT </strong></h1> <p>&nbsp;</p> <p><strong>Objective:</strong>&nbsp;The aim of this study is to determine the prevalence of childhood disabilities within a specific population and to identify the most common type of disability through an analysis of demographic and socioeconomic profiles.</p> <p><strong>Setting and Design:</strong>&nbsp;A cross-sectional descriptive study was conducted using purposive sampling technique at Pakistan Navy Ship (PNS) Shifa, a leading tertiary care hospital, in the rehabilitation and pediatric outpatient departments.</p> <p><strong>Methodology:</strong>&nbsp;A sample of 109 children aged 12 years or younger, with disabilities, who visited the rehabilitation and physiotherapy OPD over a 6-month period, were included. Data collection was carried out through direct interviews with the guardian of the visiting patients, utilizing a customized questionnaire.</p> <p><strong>Results:</strong>&nbsp;The study comprised 109 children with disabilities, both congenital and acquired, with an average age of 5.4 ± 3.8 years. The majority consisted of male (61%) and female (39%) individuals. The most prevalent disability was cerebral palsy (47%), followed by global developmental delay (25%), Charcot-Marie-Tooth disease (1%), and Down syndrome (4%). Approximately 1% of the children exhibited vision and hearing impairments, while an overwhelming 79% of their guardians reported consanguinity.</p> <p>Approximately 1% of the children had vision and hearing impairment, and 79% of their guardians were consanguineous.</p> <p><strong>Conclusion:</strong>&nbsp;Among the range of disabilities observed at PNS Shifa Hospital, cerebral palsy emerged as the most common in the pediatric population. The comprehensive data on demographics and associated risk factors has the potential to provide invaluable insights to healthcare providers and policymakers, facilitating the refinement of existing services and the formulation of rehabilitation strategies focused on enhancing the quality of life for children with disabilities.</p> Dr, Dr, Dr, Dr, Dr, Dr Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/319 Mon, 12 Aug 2024 00:00:00 +0000 A Comprehensive Study of Periodontal Health and its Predictors Among School Children in Nawabshah, Pakistan http://ppj.org.pk/index.php/ppj/article/view/326 <p><strong>OBJECTIVE</strong></p> <p>To determine the status of periodontal disease and its associated risk factors among school going children in Nawabshah, Pakistan.</p> <p><strong>METHOD</strong></p> <p>This cross-sectional analysis was carried out on 350 school going children (aged 6-12 years) of either gender, chosen via non-probability consecutive sampling at Nawabshah. Particulars pertaining to oral hygiene were inquired from guardians and recorded onto a structured questionnaire along with biodata and sociodemographic details, after written informed consent. Data was analyzed as descriptive statistics and logistic regression analysis using SPSS v. 22.0.&nbsp;</p> <p><strong>RESULTS</strong></p> <p>Periodontal disease was present in 18% of children, among which 50.8% had periodontitis and 49.2% had gingivitis. All children had calculus and yet brushing frequency, flossing, and routine dental visits were low. Boys exhibited a higher likelihood of developing periodontal disease, and so did children from lower socioeconomic backgrounds. Higher maternal educational status correlated with lower incidence of periodontal disease among children OR=42.234, CI (5.082 - 351.455). Odds of periodontal disease were lower for individuals who visit the dentist OR=0.30 CI of (0.15, 0.59) and for individuals who brushed daily, but higher for individuals who chew betel nut and had C2 and C3 calculus status.</p> <p><strong>CONCLUSION</strong></p> <p>It is concluded that the oral health status among the study participants merits improvement through health education interventions at the school level.</p> Nasreen, Batool Syeda, Sanam Soomro, Benazir Maria, Mehwish Chandio, Nosheen Rathore Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/326 Mon, 12 Aug 2024 00:00:00 +0000 Effect Of Sucking Lollipops On The Recovery Gastrintestinal Functions In Children Undergoing Stoma Reversal http://ppj.org.pk/index.php/ppj/article/view/339 <p>ABSTRACT<br>Objective: To determine the effect of sucking lollipops in the early postoperative period on the time to return bowel sounds and time to open bowels in children undergoing stoma reversal. <br>Study Design: Randomized controlled trial<br>Place and Duration of the Study: Department of Pediatric Surgery, The Children’s Hospital Lahore from April 2020 to October 2020.<br>Methods: This randomized controlled trial was conducted with IRB approval. Sixty (60) children with a stoma admitted for stoma reversal were randomized into group 1 (study)- children were instructed to suck on a strawberry lollipop for 20-30 min every 4hr beginning 6hr after the operation- and group 2 (control)- no intervention. The time to return bowel sounds and the time to bowel opening were compared. <br>Results: Both groups were comparable with respect to age of presentation and gender distribution. The mean time of recovery of bowel sounds in the study group was half of the control group (16.56±8.52 vs 33.50±15.99hrs, p-value &lt;0.0001). Mean time to 1st bowel opening was also half in the study group as compared to the control group (33.3 ±23.46 vs 70.63 ±33.91hrs, p-value &lt;0.0001).<br>Conclusion: Our study found that lollipop sucking soon after stoma reversal surgery improves postoperative recovery of gastrointestinal function. This method is simple, convenient, safe, economical, and amenable to children, and should be recommended for use in similar patient groups.<br>Keywords: Bowel function, Lollipop sucking, Stoma reversal.</p> Dr Nousheen Ilyas, Dr Muhammad Bilal Mirza, Dr Mahboob Ahmad Bhutta, Dr Faryal Ilyas Jhammat, Dr Sidra tul Muntaha Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/339 Mon, 12 Aug 2024 00:00:00 +0000 pediatric neurology Absence seizure as a presenting feature of juvenile myoclonic epilepsy in children http://ppj.org.pk/index.php/ppj/article/view/349 <p><strong>Abstract</strong></p> <p><strong>Objective:</strong> To measure the frequency of juvenile myoclonic epilepsy (JME) in children with absence seizures.</p> <p><strong>Study design:</strong> Prospective cross- sectional study.</p> <p><strong>Place and duration of study: </strong>Department of Neurology, The Children’s hospital &amp; Institute of Child Health, Lahore from May to November 2023.</p> <p><strong>Material and methods: </strong>300 children presenting with absence seizures were enrolled. EEG was performed. EEG was interpreted by two different evaluators and then was correlated with clinical condition and diagnosis was established. Data was collected in proforma and analysed in SPSS version 26.0.</p> <p><strong>Results: </strong>In this study, the mean age of children was 11.45 ± 2.78 years. There were 138 (46%) males and 162 (54%) were females. The mean duration of epilepsy was 6.58 ± 4.28 months. The children who presented with absence seizures and EEG suggestive of JME were enrolled and &nbsp;further assessed for presence of other seizure types and the results were 234(78%) were having GTC seizure and 255(85%) were having myoclonic seizures.&nbsp; The major presenting type of seizure was GTC (60%), followed by myoclonic (30%) and absence seizure (10%).</p> <p><strong>Conclusion:</strong> Thus the frequency of JME is high in children with absence seizures. In future, we will recommend to screen children with absence seizures for JME in order to correctly and promptly diagnose JME and treat children accordingly.</p> Imran Yasin Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/349 Mon, 12 Aug 2024 00:00:00 +0000 Al Fatiha Induced Alteration of Hematological, and Hormonal Parameters in Cerebral Palsy Patients- A Single Center Study http://ppj.org.pk/index.php/ppj/article/view/362 <p>Background: Cerebral Palsy (CP) is a group of disorders caused by the formation of lesions in the brain during prenatal, perinatal, or postnatal development periods.</p> <p>Objective: To explore the effect of Al Fatiha intervention on hematological and hormonal parameters of CP-inflicted patients.</p> <p><strong>Place and Duration of Study:</strong> This study was conducted at Al-Umeed Rehabilitation Association (AURA), Karachi, Pakistan from February to April 2021 for a period of 2 months.</p> <p>Methods: Thirty-one structured sessions of Al Fatiha administration were conducted at AURA for six weeks after randomly allocating CP-inflicted participants into control and intervention groups. Paired t-tests were performed for within-group comparisons using SPSS v28.</p> <p>Results: The hematological and hormonal parameters were normal in both groups at baseline and sustained normality in assessment at the 6<sup>th</sup> week.</p> <p>Conclusion: The administration of Al Fatiha precipitated no negative effects. Al Fatiha effect as a non-invasive intervention needs to be intensively examined as it can be a progressive, non-pharmacological, economical, and effective approach for the betterment of CP-inflicted patients. It is hoped that this effort will pave the way for future scientists and further studies.</p> Ammara Rafique Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/362 Mon, 12 Aug 2024 00:00:00 +0000 COMPARISON OF EFFICACY OF RACECADOTRIL ALONG WITH ORAL REHYDRATION THERAPY VS ORAL REHYDRATION THERAPY ALONE IN CHILDREN (6 MONTHS TO 59 MONTHS) WITH ACUTE WATERY DIARRHEA. Dr.Faryad Hussain,Dr.Sultan Ali,Dr.Sobia Ashfaq,Dr.Hamna Ansari,Prof.Humayun Iqbal http://ppj.org.pk/index.php/ppj/article/view/385 <p><a name="_Toc145965829"></a><strong><u>ABSTRACT</u></strong></p> <p><strong>OBJECTIVE: </strong>To compare the efficacy of racecadotril along with oral rehydration therapy vs oral rehydration therapy alone in children (6 months to 59 months) with acute watery diarrhea.</p> <p>&nbsp;<strong>METHODS:</strong> A total of 150 children (75 in each group) with acute watery diarrhea, who had &nbsp;after taking informed consent were allocated into two different groups. Group A (Study group) received a combination of racecadotril and oral rehydration therapy, while Group B (Control group) received oral rehydration therapy alone. All patients from both groups were provided with regular WHO-ORS based on their hydration condition. Patients in the study group were also given racecadotril three times by dissolving it in simple water (at a dose of 1.5mg/kg/day).</p> <p><strong>RESULTS:</strong> The comparison of mean stool frequency at various time intervals revealed that Group A consistently had significantly lower stool frequencies compared to Group B from day 1 to day 5 of treatment (p-values ranging from 0.013 to 0.049). Stool consistency comparisons indicated that Group A had significantly less watery stool from day 3 to day 5, although no significant differences were noted on days 1 and 2 (p-values ranging from 0.001 to 0.048).Furthermore, a notable finding was the significantly shorter duration of hospital stay in Group A compared to Group B (p-value=0.033).</p> <p><strong>CONCLUSION: </strong>In conclusion, our study underscores the efficacy of combining Oral Rehydration Therapy with Racecadotril in managing acute watery diarrhea in children. This approach exhibited superior clinical outcomes, shorter hospital stays, and potential benefits across various subgroups.&nbsp;</p> <p>&nbsp;<strong>KEY WORDS</strong>: Diarrhea, Oral Rehydration Therapy, Oral Rehydration Solution, Racecadotril.&nbsp;</p> Faryad HUSSAIN Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/385 Mon, 12 Aug 2024 00:00:00 +0000 Spectrum of Paediatric Neurological Disorders: A Study from A Single Tertiary Care Hospital in Pakistan. http://ppj.org.pk/index.php/ppj/article/view/409 <p>Objective: To determine the clinical spectrum of neurological disorders in patients presenting in Paediatric Neurology Outpatient Department, Children Hospital and Institute of Child Health Faisalabad.</p> <p>&nbsp;</p> <p>Study Design: Hospital Based Retrospective Cross-Sectional Study.</p> <p>&nbsp;</p> <p>Place and Duration of the Study: Paediatric Neurology Outpatient Department, Children Hospital and Institute of Child Health Faisalabad, from January 2023 to January 2024.</p> <p>&nbsp;</p> <p>Methodology: Total 5211 patients were selected from the Paediatric Neurology Outpatient Database from January 2023 to January 2024, after approval from institutional ethical review board. Data regarding age, gender, area of living and diagnosis was recorded on a pre designed questionnaire.</p> <p>&nbsp;</p> <p>Results: Out of 5211 patients, majority were males (59.88%), females being (40.12%), with male to female ratio of 1.4:1. The predominant age group involved is from one to five years of age (41.97%). Most of the patients belonged to rural areas (51.32%). The most common neurological disorder observed was epilepsy 2109(40.4%) followed by developmental disorders 577 (11.7%), breath holding spells 463(8.8%), CNS infections 442(8.4%), behavioural disorders 373(7.1), intellectual disability 202(3.8%), demyelinating disorders 154(2.9%), stroke 130(2.4%), neuromuscular disorders 128(2.4%), headache disorders 120(2.3%), neurometabolic disorders 106(2.03%), bell`s palsy 77(1.4%), neural tube defects 64(1.2%), space occupying lesion 51(0.9%), neurocutaneous syndromes 43(0.8%) and miscellaneous 66(1.2%).</p> <p>&nbsp;</p> <p>Conclusion: Hence, we concluded that most common disorder in our population was epilepsy followed by developmental disorders. The majority of the patients were from 1 to 5 years of age with male predominance and residing in rural areas.</p> <p>&nbsp;</p> <p>Key words: neurological disorders, epilepsy, paediatrics, developmental disorders</p> <p>&nbsp;</p> <p>&nbsp;</p> Dr. Shafaq Sultana , Dr. Irum javed, Dr. Farrah Iqbal, Dr. Ghanwa Fazal, Dr. Huma Rubab Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/409 Mon, 12 Aug 2024 00:00:00 +0000 PRE IMPLANATATION GENETIC DIAGNOSIS OF MICRO SYNDROME IN A MUSLIM FAMILY http://ppj.org.pk/index.php/ppj/article/view/321 <p>Warburg micro syndrome is a rare autosomal recessive disorder characterized by microcephaly &nbsp;&nbsp;&nbsp;&nbsp;micro cornea, congenital cataract, developmentally delayed, hypogonadism and structural brain abnormalities. It was first described by Warburg after that it was named as Warburg micro syndrome.</p> <p>Our patient presented at 3 months due to micropenis. He has neither achieved neck holding nor eye contact. On examination he had microcephaly, micro-opthalmia, bilateral dense cataracts and underdeveloped scrotum. MRI brain done showed partial agenesis of corpus callosum. So we made a differential diagnosis of Warburg micro syndrome. He had another sibling with similar presentation with micropenis, microcephaly, micro-ophthalmia and developmentally delayed child.</p> <p>&nbsp;At that time, genetic test was done. Pathogenic variant in the RAB3GAP2 gene was detected. Preimplantation genetic diagnosis was planned for next pregnancy. Only healthy embryos are transferred to the uterus. Pre-implantation genetic diagnosis is a ray of hope for families with rare genetic disorders.</p> Ayesha Abdul Razzaq Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/321 Mon, 12 Aug 2024 00:00:00 +0000 the Autoimmune Encephalitis: http://ppj.org.pk/index.php/ppj/article/view/342 <p><strong><u>Abstract:</u></strong></p> <p>&nbsp;Autoimmune encephalitis (AE) is characterized by brain parenchymal inflammation, causing neurological dysfunction with diverse symptoms like seizures, movement disorders, mood changes, and altered consciousness. Despite its rarity, AE ranks third in neuropsychiatric decline causes. The condition’s complexity arises from varied etiologies, often leading to inconclusive investigations. Immune–mediated cases redefine diagnosis and treatment approaches, emphasizing timely identification.Multidiscilplinary care is vital due to the broad symptoms spectrum. Antibody detection is primary diagnostic method, but antibody-negative cases, especially in children, pose challenges. Symptomatic standards for immune system limbic encephalitis includes subacute beginning specific brain abnormalities, fluid or EEG anomalies, and exclusion of alternatives. Intravenous immunoglobulins are effective as first line treatment for antibody –positive cases, while rituximab shows promise as second line therapy. A case study of an 8 –years-old boy demonstrates rituximab’s potential in refractory AE, supplementing standard therapy. This underscores the complexity of AE and the need for swift, comprehensive management to improve outcomes.</p> <p>&nbsp;</p> nida aslam Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/342 Mon, 12 Aug 2024 00:00:00 +0000 : Esophagopleural fistula and Pyopneumothorax: A rare presentation of Cervical Esophageal Duplication Cyst in a newborn http://ppj.org.pk/index.php/ppj/article/view/355 <p>Cervical esophageal duplication cyst is a very rare congenital anomaly and rarer is the presence of esophago-pleural fistula and pyopneumothorax in association with it. &nbsp;We report a case of 2-days-old male neonate who presented with progressively increasing respiratory distress since birth, requiring mechanical ventilation. He developed right-sided pyopneumothorax and chest intubation done. But when enteral feed initiated, it appeared in the chest tube. Contrast studies suggested esophago-pleural fistula and neck thoracotomy done. However, per-operatively a ruptured cervical esophageal duplication cyst was found with a fistulous communication with the pleural cavity. It was excised surgically and patient recovered.</p> <p><strong><u>Keywords</u></strong><strong>: </strong>Cervical esophageal duplication cyst, Esophagopleural fistula, Pyopneumothorax</p> Sabika Iftikhar, SaadurRehman, Shoaib Butt, Mahmood Shaukat, Shadab Masood, Sajjad Rafique Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/355 Mon, 12 Aug 2024 00:00:00 +0000 An arachnoid granulation manifesting as a parietal protuberance in a 7-year-old child http://ppj.org.pk/index.php/ppj/article/view/412 <p>An arachnoid granulation is an anatomical variant arising from a protrusion of the arachnoid through the dura mater. Arachnoid granulations usually measure a few millimeters in size. Some arachnoid granulations grow to fill and dilate the dural sinuses. Large granulations are designated giant arachnoid granulations. Giant arachnoid granulations are usually discovered as incidental findings, and solid protuberances in the parietal region caused by giant arachnoid granulations are not well known. A 7-year-old female child presented with a solid protuberance in the parietal region. Magnetic resonance imaging (MRI) revealed a giant arachnoid granulation. Thus, an arachnoid granulation can cause a parietal protuberance. MRI can be successfully performed without sedation when a child feels relaxed by the clinician’s explanation and initiatives such as prioritizing sequences that shorten the scan time and employing an open MRI system. Clinicians should be aware of an arachnoid granulation as a differential diagnosis for a parietal protuberance.</p> Kazuto Taniguchi, Ichiro Imamura Copyright (c) 2024 Pakistan Pediatric Journal http://ppj.org.pk/index.php/ppj/article/view/412 Mon, 12 Aug 2024 00:00:00 +0000