Early Kasai portoenterostomy in a 9-day-old newborn with extrahepatic biliary atresia: a case report highlighting improved prognosis with prompt intervention.

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.

Portal vein thrombosis complicating neonatal umbilical vein catheterization in a 3-month-old infant with coincidental extrahepatic biliary atresia: A case report.

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.

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

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.

Symptoms and management of cow's milk allergy: perception and evidence.

Introduction: The diagnosis and management of cow's milk allergy (CMA) is a topic of debate and controversy. Our aim was to compare the opinions of expert groups from the Middle East ( = 14) and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) ( = 13).

Methods: These Expert groups voted on statements that were developed by the ESPGHAN group and published in a recent position paper.

A critical influence of HIF-1 on MMP-9 and Galectin-3 in oral lichen planus.

Objective: Oral lichen planus carries a risk for malignancy. The pathogenesis of the disease is mediated by various inflammatory mediators. Several mediators could be responsible for the oncogenic behavior in certain cases.

Vertebral artery dissection aneurysm in a pediatric patient: A rare case with unusual clinical manifestations, diagnostic, and management challenges.

Vertebral artery aneurysm is a rare condition with diverse clinical manifestations in pediatric patients. We present the case of a 12-year-old male who presented with diplopia, vomiting, ataxia, and severe headache. Diagnostic evaluation revealed an extracranial vertebral artery dissection with an associated aneurysm at the C3-C4 level.

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

Background: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population.

Methods: Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alström syndrome.

The Study of Carotid Artery Intima-Media Thickness in Children With Epilepsy on Anti-Epileptic Drugs.

. To evaluate carotid artery intima-media thickness (CIMT) and lipid profile in children with epilepsy on long-term antiepileptic drug (AED) monotherapy. .

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

Background: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination.

Clinical Presentation: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor.

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.

Pediatric myelin oligodendrocyte glycoprotein antibody associated disease-Asymmetric papilledema and elevated ICP are two of the chameleons: A case report.

Background: Myelin oligodendrocyte glycoprotein antibody (MOGA) associated diseases are inflammatory immune-mediated demyelinating disorders with relapse potential involving the central nervous system. Multiple unusual clinical manifestations of those disorders were reported, making treatment decisions difficult.

Case Presentation: A healthy 12-year-old obese boy presented with headache and bilateral asymmetric papilledema.

Down syndrome patients with normal hearts: are they really normal?

Even though congenital heart disease is a common finding in down syndrome (DS) patients, some of them have anatomically normal hearts. However, the term "normal" might not be suitable, as these patients usually suffer from functional cardiac dysfunction. Several research highlighted that despite the absence of anatomical heart defects, subtle cardiac function derangements are present in DS patients.

A Comparative Study of Levetiracetam and Phenobarbital for Neonatal Seizures as a First Line Treatment.

Objectives: We aimed to evaluate the use of intravenous levetiracetam as the first-line treatment of neonatal seizures compared with phenobarbital.

Methods: The study was conducted on 104 neonates (0-28 days) with clinical seizures after inclusion criteria. They were assigned in equal ratio into 2 groups; 1 included neonates who received phenobarbitone, and the other included neonates who received levetiracetam.

Expression of TGF-β and MMP-2 in hereditary gingival fibromatosis epithelial cells. A possible contribution of the epithelium to its pathogenesis.

Background: Although the molecular mechanisms that cause the development of hereditary gingival fibromatosis are not fully understood, multiple theories have been suggested to clarify its pathogenesis. However, the overlying keratinocytes' function is poorly comprehended. This work aimed to investigate the expression of TGF-β and MMP-2 in hereditary gingival fibromatosis epithelial cells compared to the normal gingival epithelium to give an insight into the mechanism of the development of this condition.

Bone densitometry in children with idiopathic nephrotic syndrome on prolonged steroid therapy: A tertiary multicenter study.

Long-term glucocorticoids administration inhibits bone mineralization and has a negative impact on basic cellular mechanisms that are critical in the development and maintenance of bone strength. Steroids can cause osteoporosis in children and have a negative impact on bone mineral content (BMC) and bone mineral density (BMD). We aim to determine the BMD of children with idiopathic nephrotic syndrome (INS) who are on corticosteroids therapy.

Granulomatous hepatitis in a Saudi child with defect: a case report and literature review.

Interleukin-2 receptor alpha () defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash.