Sudanese journal of paediatrics最新文献

Congenital diaphragmatic hernia (CDH) is a severe developmental anomaly with variable clinical outcomes, influenced by factors such as liver herniation, pulmonary hypertension and associated anomalies. While familial clustering of CDH has been described, its occurrence in monozygotic twins remains rare. We report the case of premature monozygotic female twins diagnosed prenatally with left-sided CDH, delivered at 30 weeks and 1 day of gestation due to maternal haemolysis, elevated liver enzyme levels and low platelet levels syndrome. Both infants required immediate intubation and surgical correction. Twin A had no liver herniation or pulmonary hypertension and was discharged on day 66 with a relatively uncomplicated course, despite an episode of ileus that resolved conservatively. In contrast, Twin B presented with liver herniation, persistent pulmonary hypertension of the newborn (PPHN), and a haemodynamically significant patent ductus arteriosus (PDA). Despite PDA ligation, pulmonary pressures remained elevated, and cardiac catheterisation revealed left pulmonary artery stenosis. Twin B also experienced reherniation of abdominal organs, necessitating a second diaphragmatic repair, and was discharged after 224 days with home oxygen therapy. This report illustrates the divergent clinical trajectories of genetically identical infants with CDH and highlights liver herniation, PPHN and vascular anomalies as key prognostic factors. It underscores the importance of early prenatal diagnosis, individualized perinatal management and the potential need for genetic evaluation in twin CDH cases.

Atlantoaxial subluxation (AAS), while uncommon in the general population, occurs more frequently in children with Down syndrome (DS). This association is attributed to the presence of connective tissue laxity, which affects approximately 15%-20% of individuals with DS. A 12-year-old female patient with known classical DS presented to a healthcare institution with complaints of vomiting and inability to walk. Physical examination revealed moderate to severe intellectual disability and limited verbal communication. Facial features included DS characteristics such as low-set ears and a flattened nasal bridge. Neurologic examination demonstrated weakness in the left upper and lower limbs (1-2/5 on muscle strength testing), increased deep tendon reflexes on the left side, and an extensor plantar response (Babinski sign). Neuroimaging studies revealed no cranial abnormalities. Brain MRI, however, demonstrated an increased atlantoaxial joint distance (10 mm) on the sagittal image, suggestive of AAS. Additionally, the MRI showed anterior compression of the odontoid process on the spinal cord, indicating potential for spinal cord compression. While cerebrovascular events are the most common cause of hemiparesis, health professionals should keep in mind AAS as a potential culprit in patients with DS with limited communication and cognitive abilities. In such cases, prompt investigation and evaluation are essential, as early surgical intervention can significantly improve outcomes and prevent permanent neurological damage. This case highlights the importance of considering the specific needs and challenges faced by patients with DS in the diagnostic and therapeutic process.

Breastfeeding knowledge and attitude are absolutely necessary for antenatal mothers. This study aimed to assess antenatal mothers' breastfeeding knowledge and attitudes and their association with sociodemographic characteristics. This cross-sectional study was done among antenatal mothers using semi-structured interviewer-administered questionnaire. Twenty-four knowledge-related questions scored one mark for each correct response and zero for incorrect. Scores achieved between 17-24, 9-16, and 0-8 were grouped as adequate, average, and inadequate knowledge, respectively. For assessing attitude, on the Iowa Infant Feeding Attitudes Scale, 17 questions were graded on a 5-point Likert scale ranging from 1 to 5. Scores achieved between 70-85, 49-69, and 17-48 were grouped as positive about breastfeeding, neutral, and positive about formula feeding, respectively. Descriptive statistics and chi-square tests were used to analyze data. The p-value = 0.040). Breastfeeding knowledge was inadequate in more than one-third of the expectant women which signifies the importance of scaling up the counseling about the advantages and management of breastfeeding.

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

Sarcoidosis is a chronic multisystem granulomatous disease of unknown etiology. It is rare in young children. A 9-year-old boy presented with failure to thrive, skin rashes, persistent fever, and respiratory symptoms since 5 years of age. Blood investigations done showed elevated serum calcium and angiotensin converting enzyme levels and biopsy of the rashes on the left shin revealed non-caseating granulomatous lesion. Computed tomography of chest revealed interstitial lung disease and examination of eyes showed bilateral uveitis. He also had sensorineural hearing impairment, nephrocalcinosis, and short stature. The patient was treated with oral steroids and mycophenolate mofetil. At follow up, there was improvement in his systemic features including rashes and arthritis. Early detection, diagnosis, and appropriate treatment of sarcoidosis are vital for disease control and to avoid morbidity.

Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis. Molecular genetic testing may confirm the diagnosis. We present a 12-day-old boy who presented with salt loss and dehydration, initially thought to be CAH which was later confirmed biochemically to be PHA type 1, and eventually genetic testing revealed the presence of the novel heterozygous NM_000901.5(NR3C2):c.1876T>G (p.(Phe626Val)) variant in the infant and in his father. Interestingly, the father had asymptomatic hyperaldosteronism. We classified NM_000901.5(NR3C2):c.1876T>G as likely pathogenic according to the American College of Medical Genetics and Genomics criteria. Functional validation and/or identifying more patients with NM_000901.5(NR3C2):c.1876T>G are necessary to corroborate the pathogenicity of the variant.

Non-compaction cardiomyopathy (NCCM) or spongy myocardium is a rare type of congenital cardiomyopathy. Visceral leishmaniasis is a protozoal disease caused by Leishmania donovani and transmitted by the bite of female sand-fly species of Phlebotomus argentipes, which is common in tropical areas like Sudan. We report a 6-year-old female, presented with a fever of unknown origin, weight loss, anemia that necessitated multiple blood transfusions and had hepatosplenomegaly. Developed heart failure later on admission the current case narrates an unusual combination of diseases with therapeutic challenges in a resource-limited setting.