Background. Congenital disorders of glycosylation (CDG) represent a group of inherited metabolic diseases characterized by multisystem involvement. SLC35A2-CDG (OMIM #300896) is a rare X-linked subtype resulting from pathogenic variants in the SLC35A2 gene, which encodes the UDP-galactose transporter. Approximately 70 cases have been documented, predominantly presenting with early-onset epilepsy, developmental delay, hypotonia, and dysmorphic features. Phenotypic variability remains incompletely characterized, and novel features continue to expand the clinical spectrum. Case Presentation. We report a 6-year-old girl with SLC35A2-CDG harboring a novel de novo heterozygous frameshift variant (NM_005660.3: c.105_106insCG, p.K36Rfs*6). The patient presented with epileptic spasms, severe global developmental delay, hypotonia, and distinctive dysmorphic features including strabismus and inverted nipples. Notably, she exhibited bilateral patellar luxation and perineal dysmorphism with a shortened anogenital distance, features that have not been previously associated with SLC35A2-CDG. Additional findings included a thin corpus callosum, a pineal cyst, right-sided aortic arch, bilateral vesicoureteral reflux, and central hypothyroidism. Oral D-galactose supplementation was initiated and resulted in subjective improvements in language comprehension, pain responsiveness, and motor function, although no improvement in seizures was observed. Conclusions. This casa may expand the phenotypic spectrum of SLC35A2-CDG by describing bilateral patellar luxation and perineal dysmorphism as potentially novel clinical features, along with a previously unreported pathogenic variant. Recognition of such unique features is crucial for improving our clinical understanding of this rare disorder, guiding differential diagnosis, and contributing to a more refined characterization of genotype–phenotype correlations.
Immune thrombocytopenia (ITP) is an acquired bleeding disorder in children, and the severity of the bleeding primarily guides treatment decisions. In Türkiye, the intensive seven-day mega-dose methylprednisolone (MDMP) protocol—administered as 30 mg/kg for 3 days, then 20 mg/kg for 4 days—has been used effectively for a long time. This systematic review and meta-analysis aimed to examine the efficacy of this MDMP protocol and compare it with intravenous immunoglobulin (IVIG). Researchers searched MEDLINE, Web of Science, Cochrane, and TR Dizin databases (1970–2022) and identified 11 records from Türkiye, including 6 randomized trials involving 717 patients, following PRISMA guidelines. The primary endpoint was the response rate, defined as a platelet count greater than 20×109/L. The overall response rate to MDMP across these studies was 96.1%, with 81.9% achieving a complete response. In the seven studies comparing treatments, MDMP showed a response rate of 93.6% versus 93.2% for IVIG. The meta-analysis of the six randomized studies revealed no significant difference in efficacy between the two treatments (risk ratio: 0.98; Z = -0.45; p = 0.65). While side effects were more frequent with MDMP (0.83 per patient) than with IVIG (0.41 per patient), these effects were predominantly transient (mainly weight gain in 45.3% of patients); conversely, IVIG led to acute reactions and two hospitalizations for aseptic meningitis, and no cases of thrombosis were observed with either treatment. The conclusion highlights that MDMP represents a reliable, intensive, non-biological first-line treatment for pediatric ITP, offering a practical alternative to IVIG, particularly where cost and ease of administration (oral route) are important considerations. MDMP’s efficacy in achieving a rapid platelet increase is deemed similar to that of IVIG. High-quality studies are needed to confirm MDMP’s long-term safety profile and definitively establish its role in managing high-grade bleeding.
Background. Noonan syndrome (NS) is a multisystemic genetic disorder primarily affecting the cardiovascular system. While pulmonary valve stenosis and hypertrophic cardiomyopathy are common cardiac manifestations, coronary artery anomalies (CAAs) are rare but potentially life-threatening complications. Case Presentation. A 12-year-old boy with genetically confirmed Noonan syndrome due to a PTPN11 mutation (p.Asn308Asp, c.922A>G) had been followed since infancy. He initially had mild pulmonary valve stenosis that regressed spontaneously. He received intermittent growth hormone therapy, which was discontinued for two years and restarted 1.5 years prior to presentation. Routine echocardiography revealed newly detected coronary artery ectasia involving the left main coronary artery (LMCA) and the left anterior descending (LAD) artery. Coronary computed tomography angiography confirmed ectatic dilation of the LMCA and LAD, with an intramyocardial course of the mid-LAD. Further evaluation with cardiopulmonary exercise testing, myocardial perfusion scintigraphy, and selective coronary angiography demonstrated normal myocardial perfusion, an absence of ischemia, and diffuse coronary ectasia without discrete aneurysm formation. The patient remained asymptomatic, and no flow-limiting lesions were identified. Conclusion. This case highlights a rare vascular manifestation of NS and underscores the importance of vigilant cardiovascular surveillance. Due to the rarity of such cases and the lack of standardized monitoring or treatment protocols, individualized risk stratification remains essential. Reporting such cases is critical for raising awareness and guiding future management strategies for coronary anomalies in Noonan syndrome.
Background. Arteriovenous malformations (AVMs) are rare causes of lower gastrointestinal bleeding in the pediatric population. Case Presentation. We report two female children aged 3 and 7 years old with multiple episodes of hematochezia and severe anemia who underwent computed tomography angiography. The first case demonstrated diffuse concentric wall thickening with small calcifications (phleboliths) involving the sigmoid colon and rectum. The affected segments demonstrated moderate progressive enhancement, along with an arcade of prominent vascular channels in the pericolic fat. The second case demonstrated hyperdense wall thickening involving the descending colon and proximal sigmoid colon with intense homogeneous contrast enhancement and an arcade of prominent vessels along the left colon. In both cases, the feeding arteries arose from the inferior mesenteric artery and the venous drainage was into the inferior mesenteric vein. Our first case was subjected to ligation of inferior mesenteric vascular pedicle feeding and draining the AVM, which succeeded in controlling bleeding episodes, while the second patient, who presented with relatively milder symptoms, underwent embolization therapy. Conclusion. Vascular malformations of the bowel should be considered in pediatric age group in cases of lower gastrointestinal bleed.
