Sherbiny, H. S., J. A. Alfaifi, A. O. Ahmed, H. Hassan, R. Abdullah, S. A. Alsuwat, R. M. Al-Juaid, A. A. Neyaz, M. A. M. Oshi, and N. M. Kamal, "Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.", Medicine, vol. 104, issue 5, pp. e41342, 2025 Jan 31. Abstract

RATIONALE: Stüve-Wiedemann syndrome (SWS) is a rare, severe autosomal recessive disorder (#OMIM 601559) caused by pathogenic variants in the LIFR gene. It is characterized by skeletal dysplasia and dysautonomia and carries a high mortality rate in infancy, which decreases significantly after the age of 2. Detailed case descriptions enhance understanding of this rare condition.

PATIENT CONCERNS: We report a male, full-term infant born to consanguineous Yemeni parents with no family history of genetic disorders. Prenatal ultrasound revealed short, bowed long bones suggestive of skeletal dysplasia. At 12 hours of age, the infant developed respiratory distress, poor sucking, and an agitated cry. At 48 hours, he experienced unexplained hyperthermia, and a comprehensive septic workup was negative.

DIAGNOSES: Initial findings included generalized hypotonia, hyporeflexia, and dysmorphic features (micrognathia, camptodactyly, short, and bowed limbs). Radiographic imaging revealed skeletal abnormalities. Whole exome sequencing identified a novel homozygous pathogenic variant in the LIFR gene (c.2257dup p.(Arg753Lysfs*20)), confirming the diagnosis of autosomal recessive SWS type 1.

INTERVENTIONS: The infant was admitted to the neonatal intensive care unit, received nasal oxygen support, and was managed with orogastric tube feeding due to poor sucking and swallowing.

OUTCOMES: At 5 months, the infant remains dependent on orogastric tube feeding, with less frequent hyperthermic episodes.

LESSONS: SWS is a rare genetic disorder with a wide phenotypic spectrum. Early recognition and multidisciplinary management are crucial to addressing the high mortality risk associated with dysautonomia in infancy. Case reports of novel variants contribute to a deeper understanding of SWS and highlight the importance of tailored clinical care for improved outcomes.

Mortada HF El-Shabrawi, Ola El-Sisi, A. H. Abdel Sattar, F. Hassanin, M. F. Sheba, A. Elhennawy, N. M. Kamal, M. A. M. Oshi, A. Algarni, and S. A. E. Marzouk, "Portal vein thrombosis complicating neonatal umbilical vein catheterization in a 3-month-old infant with coincidental extrahepatic biliary atresia: A case report.", Medicine, vol. 104, issue 5, pp. e41238, 2025 Jan 31. Abstract

RATIONALE: Umbilical vein catheterization (UVC) is a common procedure in neonatal intensive care units (NICU) but carries risks of severe complications such as portal vein thrombosis (PVT). Extrahepatic biliary atresia (EHBA), a leading cause of neonatal cholestasis, often progresses to end-stage liver disease. This case report discusses the rare coexistence of PVT and EHBA in a 3-month-old infant, highlighting the critical need for timely diagnosis and intervention.

PATIENT CONCERNS: A 3-month-old female presented with jaundice, dark-colored urine, and clay-colored stools. She had a history of NICU admission for neonatal sepsis during which a UVC was inserted.

DIAGNOSES: Physical examination revealed jaundice and hepatosplenomegaly. Abdominal ultrasonography identified hepatosplenomegaly, mild ascites, and portal cavernoma. A liver biopsy confirmed a diagnosis of EHBA.

INTERVENTIONS: The patient underwent Kasai portoenterostomy. Postoperatively, she developed complications including ascites, systemic hypertension, and hyperammonemia. Initial improvements were observed with decreased bilirubin levels.

OUTCOMES: Despite initial stabilization, the patient's condition deteriorated, and she succumbed on day 15 postoperation.

LESSONS: This case underscores the significant risks of PVT associated with UVC and the importance of monitoring NICU graduates for early detection of complications. The early onset of portal hypertension and esophageal varices in this case challenges existing beliefs about EHBA's clinical progression. Greater awareness and routine follow-up imaging are essential to improve outcomes in similar scenarios.

Mortada HF El-Shabrawi, Ola El-Sisi, G. Eltagy, M. Qinawy, M. A. M. Oshi, A. Algethami, N. A. Alhujayri, S. S. Alharthi, A. M. Alelyani, and N. M. Kamal, "Early Kasai portoenterostomy in a 9-day-old newborn with extrahepatic biliary atresia: a case report highlighting improved prognosis with prompt intervention.", The Journal of international medical research, vol. 53, issue 2, pp. 3000605241311115, 2025 Feb. Abstract

Extrahepatic biliary atresia (EHBA) is a leading cause of neonatal cholestasis, often resulting in end-stage cirrhosis and portal hypertension without early diagnosis and treatment. This report highlights the importance of timely intervention, describing a 6-day-old male newborn diagnosed with EHBA who underwent successful Kasai portoenterostomy at 9 days of age. While the procedure is typically performed within the first 60 days of life, this exceptionally early intervention led to significantly improved outcomes. Postoperative recovery was marked by bilirubin normalization within 2 months and steady improvement in liver function tests, demonstrating the advantages of early surgery. The procedure involved creating a Roux-en-Y hepatic portojejunostomy to restore bile flow, preventing progression to biliary cirrhosis. Early intervention achieved effective bile drainage and substantial clinical improvement. At the 1-year follow-up, the infant displayed normal growth and liver function. This case supports the hypothesis that performing Kasai portoenterostomy earlier than current guidelines recommend may lead to better outcomes. It underscores the need for vigilant neonatal care to recognize early signs of cholestasis and enable prompt surgical intervention. Early diagnosis and intervention can preserve liver function, potentially delaying or preventing the need for liver transplantation.

Sobhi, A., A. H. Al-shokary, M. K. Elmala, M. A. El Faramawy, N. S. Ismail, A. O. Ibrahim, N. M. Kamal, D. Y. H. Omar, A. E. E. Eltayeb, A. A. K. E. Abdel Mageed, et al., "The Value of Netrin-1 and Neuron Specific Enolase biomarkers in neonates with Hypoxic İschemic Encephalopathy.", Sage open pediatrics, vol. 12, pp. 30502225251321025, 2025 Jan-Dec. Abstract

OBJECTIVE: To investigate netrin-1 (NT-1) and neuron-specific enolase (NSE) in the umbilical cord as biomarkers in HIE stage II/III.

MATERIALS AND METHODS: We included 100 infants with HIE stage II/III and 100 controls. Cord samples were taken to determine the levels of NT-1 and NSE.

RESULTS: The HIE group showed significantly higher NT-1 (343.3 ± 100.6 pg/mL) and NSE (55.17 ± 13.4 ng/mL;  = .037,  = .007, respectively) than the control group, which had NT-1 (268.1 ± 79.3 pg/mL) and NSE (31.3 ± 19.5 ng/mL). The cut-off values for NT-1 and NSE were 289.3 pg/mL and 31.9 ng/mL, respectively. NT-1 had a sensitivity of 92%, a specificity of 100%, a positive predictive value (PPV) of 94%, and a negative predictive value (NPV) of 100%. The sensitivity, specificity, PPV, and NPV for NSE were all 100%.

CONCLUSION: NT-1 and NSE can be reliable biomarkers for predicting HIE stage II/III.

Indrio, F., A. El Beleidy, A. Adel, B. Al Enazi, K. Bouziane Nedjadi, H. Al Khalaf, N. M. Kamal, W. Ayesh, Y. G. A. El Gendy, and E. El Baroudy, "Optimizing Weaning Strategies: A Consensus-Based Approach for Complementary Feeding in the Middle East and North Africa Region.", Pediatric gastroenterology, hepatology & nutrition, vol. 28, issue 4, pp. 201-214, 2025 Jul. Abstract

Optimal nutrition during infancy and early childhood is crucial for promoting lifelong health and well-being. Complementary feeding is a crucial phase in the nutritional journey of growing babies, as their nutritional requirements begin to surpass those provided by breast milk at approximately 4-6 months of age. While a nutritional gap, notably iron deficiency, is prevalent in the Middle East and North Africa (MENA) region, optimal complementary feeding practices and fortified food items such as iron-fortified infant cereals can help bridge this gap and achieve nutritional targets. Healthcare professionals play a pivotal role in providing expert guidance and support to parents during this crucial stage of development. However, the MENA region, with its diverse populations and varied weaning practices in different cultures, lacks unified guidelines specific to the region. This consensus is intended to serve as a foundation for pediatricians and primary care physicians in the MENA region to advise parents and caregivers about optimal complementary feeding practices.

Almalki, F., H. A. Alkorbi, N. M. Kamal, M. E. El Naggar, I. K. Bahlak, M. S. Althobaiti, A. M. E. S. El Zeky, A. M. E. Abdelkader, H. Alruqi, E. Alharbi, et al., "A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.", American journal of medical genetics. Part A, vol. 200, issue 1, pp. 102-109, 2026 Jan. Abstract

Sandestig-Stefanova syndrome (SANDSTEF) (OMIM: 618804) is a recently identified autosomal recessive disorder characterized by a complex phenotype affecting multiple organ systems. To date, only 10 cases have been reported in the literature. Here, we present a newly identified patient exhibiting a distinct clinical presentation, along with a novel homozygous splice variant in NUP188. The proband has multiple system involvement, including ophthalmology, central nervous system, skin, distinct facial features, congenital heart disease, and respiratory system; eventually, he passed away with respiratory failure. A novel splice variant was identified using ES (NM_015354.2c.1962-2A>C p.(?)). The variant was confirmed by Sanger sequencing and was found to segregate from the parents. RT-PCR analysis showed no detectable amplification in the proband, while parental samples displayed two bands, indicating carrier status. The identification of a novel pathogenic variant contributes to a deeper understanding of the molecular mechanisms underlying the disorder and expands its phenotypic spectrum.

Alharthi, S., S. A. Jafri, M. A. Alzaedi, N. M. Aljaed, M. M. Eldoskey, S. A. Abosabie, M. Oshi, S. A. Abosabie, and N. M. Kamal, "Multisystem inflammatory syndrome in children (MIS-C) presenting with valvulitis, myocarditis, and QTc prolongation: A case report from Saudi Arabia.", Medicine, vol. 104, issue 35, pp. e43995, 2025 Aug 29. Abstract

RATIONALE: This case report highlights the complex clinical course and successful multidisciplinary management of a pediatric patient with multisystem inflammatory syndrome in children (MIS-C), who posed clinical dilemma at presentation. It underscores the ongoing clinical relevance of MIS-C as a post-Coronavirus disease 2019 sequelae and emphasizes the importance of maintaining a high index of suspicion for MIS-C in pediatric differential diagnoses, especially when symptoms overlap with other common conditions.

PATIENT CONCERNS: An 11-year-old previously healthy Saudi girl presented with gastrointestinal symptoms initially suggestive of acute appendicitis. Her condition rapidly deteriorated with signs of cardiovascular compromise.

DIAGNOSES: Surgical exploration confirmed a perforated appendix. Cardiac workup revealed elevated troponin levels, corrected QT interval prolongation (500 ms), ST-segment changes, and echocardiographic evidence of mitral and aortic regurgitation with reduced ejection fraction, leading to a diagnosis of MIS-C fulfilling both Centers for Disease Control and Prevention and World Health Organization criteria. Schwartz et al's criteria are widely accepted for diagnosing long QT syndrome, which guided our interpretation of the corrected QT interval prolongation observed in this case. According to the Centers for Disease Control and Prevention, MIS-C is defined by a constellation of symptoms occurring in individuals under 21 years with recent severe acute respiratory syndrome coronavirus 2 infection or exposure.

INTERVENTIONS: Management included intravenous immunoglobulin, corticosteroids, inotropes, diuretics, aspirin, and broad-spectrum antibiotics, coordinated by a multidisciplinary care team.

OUTCOMES: The patient experienced full cardiac recovery, confirmed through serial electrocardiogram and echocardiography over 1 year.

LESSONS: This case underscores the importance of recognizing MIS-C in children presenting with atypical symptoms such as abdominal pain. Timely diagnosis and early multidisciplinary intervention are essential to prevent serious cardiac complications.

Kotb, M. A., S. Fakhry, H. Abd El Baky, M. Y. Abd El Khalek, N. M. Kamal, J. Alfifi, M. A. M. Oshi, S. A. Alalyani, and C. Basanti, "Bone Densitometry is a Valuable Marker for Bone Health Monitoring in Pediatric Wilson's Disease Patients: A Tertiary Center Experience.", Sage open pediatrics, vol. 12, pp. 30502225251367480, 2025 Jan-Dec. Abstract

Wilson's disease is a rare inherited disorder causing copper accumulation, which may adversely affect bone health in children. To assess bone mineral density and the prevalence of osteopenia and osteoporosis in pediatric Wilson's disease patients using DEXA. A cross-sectional study was conducted on 15 children with confirmed Wilson's disease. Bone mineral density was assessed using dual-energy X-ray absorptiometry (DEXA), and clinical, biochemical, and treatment-related variables were analyzed. The mean age was 10 ± 3.6 years; 53% were female. DEXA revealed bone disease in 60%: mild osteopenia (13%), moderate (27%), and osteoporosis (20%). Bone disease did not correlate with treatment duration, urinary copper, calcium, phosphorus, or alkaline phosphatase. However, serum albumin positively correlated with bone density ( = .018). Bone disease is frequent and often subclinical in pediatric Wilson's disease. DEXA is a useful tool for early detection. Larger studies are needed to evaluate the effects of treatment and micronutrient status on bone health.

Bakkar, A., E. Althobaiti, I. Alqahtani, L. A. Abualkhair, N. M. Kamal, M. Althobaiti, T. Alotaibi, L. Habib, L. Alharthi, S. Aljuaid, et al., "Short- and long-term complications of insulin pump therapy in children and adolescents with type 1 diabetes: a multicenter cross-sectional study from Saudi Arabia.", Therapeutic advances in chronic disease, vol. 16, pp. 20406223251381573, 2025. Abstract

BACKGROUND: Insulin pump therapy improves glycemic control in children with type 1 diabetes but is associated with technical and dermatological complications that can impact adherence. Research on these adverse effects in pediatric populations is limited.

OBJECTIVES: This study aimed to evaluate short- and long-term complications of insulin pump therapy in pediatric patients in Saudi Arabia, focusing on technical malfunctions, dermatological issues, and patient satisfaction.

DESIGN: A cross-sectional survey-based study conducted in multiple centers in Taif, Saudi Arabia.

METHODS: Fifty-nine parents of children with type 1 diabetes who used insulin pumps provided data for the study. Participants reported technical issues, skin-related complications, and overall satisfaction. IBM SPSS Statistics version 27.0.1 was used to conduct the statistical analysis.

RESULTS: Technical complications were frequent, with 64.4% experiencing tube blockages, 39.0% reporting needle dislodgment, and 39.0% observing air bubbles in the tubing. Dermatological issues included discomfort at the infusion site (54.2%), skin pigmentation (45.8%), and scarring (55.9%), with lipohypertrophy (22.0%) posing a concern for insulin absorption. Longer pump use was significantly associated with increased complications, particularly tube blockages and skin pigmentation. Despite these challenges, 84.7% of participants recommended insulin pumps over multiple daily injections.

CONCLUSION: Technical and dermatological complications were common, increasing with longer pump use. Proper infusion site rotation, infusion set management, and improved patient education are key to reducing adverse effects. To improve safety and efficacy, future studies should concentrate on infusion set change patterns, newer pump technologies, and standardized guidelines.

Alkhadidi, F., H. AlSharif, A. AlQthami, S. H. Alkhaldi, S. A. Alsuwat, S. A. Abosabie, S. A. Abosabie, and N. M. Kamal, "Novel homozygous gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report.", World journal of experimental medicine, vol. 15, issue 4, pp. 108404, 2025 Dec 20. Abstract

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by motile cilia dysfunction. Identifying pathogenic variants is essential for diagnosis and personalized care, especially in consanguineous populations like Saudi Arabia.

CASE SUMMARY: This report presents a Saudi pediatric patient diagnosed with PCD who exhibited persistent neonatal tachypnea, chronic productive cough, and recurrent otitis media. Whole-exome sequencing revealed a novel homozygous nonsense variant in the gene (NM_198463.2:c.508C>T), resulting in a truncated, non-functional protein. This mutation likely impairs ciliary motility due to the production of a truncated, non-functional protein. The clinical findings were supported by multiple positive sputum cultures and a significant family history of similar symptoms, suggesting a genetic etiology consistent with autosomal recessive inheritance.

CONCLUSION: This case highlights the importance of genetic studies in diagnosing PCD, particularly in communities with a high rate of consanguinity. The identification of a novel homozygous variant in the gene expands the known genetic landscape of the disease. Further research is essential to clarify the functional role of in ciliary biology and its contribution to PCD pathogenesis.