ABSTRACT
Background Sickle cell disease (SCD) is a common autosomal recessive inherited hemoglobin disorder in many countries. Neurological complications are among the most disabling complications in SCD. Stroke and cerebral vasculopathy can lead to further neurological insult. Ischemic insults, stroke, and silent infarcts are preventable causes of morbidity and mortality in SCD patients. Understanding the epidemiology and characteristics of such patients will help to prevent complications. Methodology This is a retrospective study conducted in a tertiary care center in Saudi Arabia. Cases of SCD admitted to the pediatric ward between the years 2019 to 2023 were included in the study. Demographic data, clinical diagnosis, and frequency of prior admissions were collected. Brain imaging results were reviewed and included. Furthermore, the study assessed common risk factors leading to developing a stroke in SCD pediatric patients. Risk factors and clinical outcomes after stroke were also included. Results Eighty-one patients were enrolled. The mean age of stroke patients was 8.21±3.50 years while the mean age of non-stroke patients was 6.24±3.76 years. More than half of the patients were females in both the stroke (61.50%) and non-stroke groups (52.90%). Thirteen SCD patients (16%) were diagnosed with stroke. Previous history of stroke, high mean corpuscular volume (MCV), and low red blood cells count (RBC) were statistically significant risk factors for stroke (p<0.0001), (p<0.0001), (p<0.03), respectively. Conclusion Stroke is one of the most devastating complications of SCD. The prevalence of stroke among SCD patients in our study was 16%. Transcranial Doppler ultrasound screening is the most important predictor of stroke.
ABSTRACT
Introduction Congenital nasolacrimal duct obstruction (CNLDO) is one of the most common congenital abnormalities encountered by pediatric ophthalmologists, occurring in 20-30% of all neonates (range: 6-84%). The majority of the cases (up to 90%) resolve within the first year of birth. Many syndromes, such as Down syndrome, are associated with congenital lacrimal anomalies. The prevalence of nasolacrimal anomalies in Down syndrome has been reported to be 22%. Methods This was a retrospective study of all children diagnosed with Down syndrome at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia between 2010 and 2015. Result The total sample size was 175 patients; 15 patients were diagnosed with CNLDO with a prevalence of 8.57%. The prevalence among the gender was 53.3% male and 46.7% female, with a median age of eight years. Regarding ocular disorders, 20.0% cases were diagnosed with refractive error, 13.3% with nystagmus, and 13.3% with blepharitis. Myopia, strabismus, conjunctivitis, and cataract were observed in four different patients, and the remaining four cases reported no other ocular disorders. Tearing, alone or associated with other symptoms, was the main presentation of CNLDO (86.7%). Bilateral CNLDO was the most commonly observed abnormality, alone or associated with others. The median age at diagnosis was one year. Of the cases, 53.3% were treated medically, 26.7% by surgical correction, and 13.3% required both. Conclusion Bilateral CNLDO is the most observed disease pattern among children with Down syndrome. In our study, tearing was the most common clinical presentation and most cases were treated medically. Down syndrome patients should be carefully examined for nasolacrimal duct obstructions and treated medically.
ABSTRACT
Occurrence of early nephrotic syndrome in type 1 diabetes mellitus patients is extremely rare. Herein, we report the case of a 12-year-old boy who presented to our pediatric nephrology clinic with generalized edema. He had been diagnosed with type 1 diabetes mellitus at age 9 and had been treated with regular insulin. Examinations revealed normal kidney function, hypoalbuminemia, proteinuria (4+), hyperlipidemia, and low protein-to-creatinine ratio. The patient was diagnosed with idiopathic nephrotic syndrome and was empirically administered prednisolone for 12 weeks. Subsequently, prednisolone was tapered over 10-12 weeks. The patient showed good response to treatment. In conclusion, co-existence of nephrotic syndrome and type 1 diabetes mellitus may suggest an immunological basis; therefore, further studies are needed to investigate the relationship between these two conditions.
