Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone. The clinical spectrum of SPENCD includes neurological involvement and immune dysfunction, such as systemic lupus erythematosus (SLE). To date, there are only 12 reported cases of SPENCD associated with SLE in the literature; however, detailed clinical follow-up data is absent for this comorbidity. This report presents clinical and laboratory data of three patients diagnosed with SPENCD-associated SLE. All three patients had short stature, arthralgia/arthritis, lupus nephritis, hypocomplementemia, and positive autoantibodies, including anti-nuclear and anti-dsDNA antibodies. Two patients exhibited class IV and one patient exhibited class V lupus nephritis. The early recognition of SPENCD is imperative, and this condition should be considered in patients with SLE, particularly in individuals with short stature and skeletal abnormalities. The cases presented here demonstrate that timely diagnosis and follow-up are key factors for the successful management of these conditions.

An analysis of cardiology consultation requests in infants presented to the pediatric emergency department of a tertiary children's hospital.

INTRODUCTION: Cardiological emergencies are reported to constitute almost 15% of all emergency department visits. This study aimed to characterize the main signs and symptoms of the infants that necessitated pediatric cardiology consultation and to analyze the characteristics of patients diagnosed with a cardiological disorder. MATERIAL AND METHODS: Patients aged 1 month to 1 year who were consulted to the pediatric cardiology service during a 4-year period were retrospectively evaluated. Patients' age, sex, nationality, complaints at PED, physical examination findings, reason for echocardiography (echo) and final diagnosis were recorded from the hospital medical record system for further analysis. Patients were divided into two groups according to the severity of the echo findings (patients with significant cardiovascular issues and patients without significant cardiovascular issues). RESULTS: Of the 200 patients included in the study, 19 were in the significant cardiovascular issues, and 181 were in the without significant cardiovascular issue group. The leading complaints of the patients who were consulted to cardiology were cyanosis (22.5%), seizure (22.5%), cough (22%), and fever (19.5%). In emergency presentations, jaundice (16%), nutritional problems (21%), and cardiomegaly (21%) on x-rays were higher in patients with significant cardiovascular issues (p < 0.05). CONCLUSION: In conclusion, congenital heart disease is usually diagnosed in the neonatal period, but some patients may be missed due to a variety of symptoms and findings. Infants with feeding problems and jaundice, especially those with cardiomegaly on chest radiographs, should be carefully evaluated for underlying serious congenital heart disease.