Neonatal Cardiac Rhabdomyoma: A Single-Center Experience.

AIM: Cardiac rhabdomyoma, known as the most common benign cardiac tumor in childhood, is strongly associated with tuberous sclerosis complex. This study aims to present our single-center experience regarding clinical observations, diagnostic approaches, and treatment modalities for cardiac rhabdomyoma identified during the neonatal period. PATIENTS AND METHODS: In this clinical observational study, we retrospectively assessed the outcomes of 12 newborn patients diagnosed with cardiac rhabdomyoma who were followed up in our neonatal intensive care unit over the past 12 years. RESULTS: The mean gestational age of the patients was 38.2±1.6 weeks, with an average birth weight of 3193±314 grams. The mean postnatal age at initial diagnosis was 12.42±15.75 days. Tuberous sclerosis complex was clinically identified in 50% of cases (six patients). Seven infants received everolimus treatment, while three infants underwent clinical monitoring without specific interventions. A significant reduction in cardiac mass size was observed in all surviving patients, leading to their subsequent discharge from the hospital. CONCLUSION: Cardiac rhabdomyomas often undergo spontaneous regression in early childhood. However, in cases with obstructive lesions or arrhythmias, they may present life-threatening consequences. Timely diagnosis, appropriate clinical management, and monitoring are crucial in optimizing outcomes for neonates with cardiac rhabdomyoma.

The effect of genotype on musculoskeletal complaints in patients with familial Mediterranean fever.

Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the frequency of musculoskeletal complaints in children with FMF and to investigate the effect of genotype on these findings.Methods: Files of patients who had been seen in our department (during routine follow-up visits) were retrospectively evaluated. Comparisons regarding musculoskeletal findings were performed between patients with homozygous/compound heterozygous and heterozygous mutations. Thereafter, patients with two mutations were divided into three groups; M694V/M694V, M694V/other mutation, and patients carrying two mutations other than M694V. Patients with single mutation were divided into two groups; M694V and non M694V carriers.Results: The study group comprised 317 FMF patients (170 females) with a mean age of 12.2 ± 5.7 years. Arthralgia (42.6%), leg pain (42.9%), and heel pain (35.6%) were the most common musculoskeletal complaints in children with FMF. Frequency of musculoskeletal findings of the patients who had two mutations did not differ from the patients with single mutations (p > 0.05). Leg and heel pain were more frequently detected in patients with homozygous M694V mutation (p = 0.001). Among patients with heterozygous mutations; children with M694V mutation had more frequently arthralgia, leg, and heel pain (p < 0.05).Conclusions: Musculoskeletal problems were commonly encountered in patients with FMF. Genotype seems to affect the frequency of these problems and M694V mutation is a predisposing factor for musculoskeletal complaints.

Late-onset disease is associated with a mild phenotype in children with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterised by recurrent, self-limited attacks of fever with serositis. Recently, it was shown that patients with early disease onset during childhood period had more severe disease. The aim of this study was to describe the demographic, clinical and genetic features of FMF patients who had late-onset disease during childhood period and to compare them to those with earlier onset patients. Files of patients who had been seen in our department between January 2013 and January 2014 were retrospectively evaluated. Patients were divided into two groups according to age of disease onset (group I, ≤8 years; group II, >8 years), and clinical findings were compared between the two groups. The study group comprised 317 FMF patients. There were 267 patients in group I and 50 patients in Group II. Median attack frequency was 24/year in group I and 12/year in group II (p < 0.05). Fever and M694V homozygosity were less frequently detected in group II (p = 0.003 and p = 0.022). Median delay in diagnosis was 24 months in group I and 12 months in group II (p = 0.002). Disease severity scores and final colchicine dosages were lower in group II (p < 0.001 and p = 0.003). Only a small number of FMF patients had disease onset at older ages in childhood period. It seems that FMF patients with late-onset disease have milder illness. However, more readily expression of their clinical findings in older ages yields earlier diagnosis in this group.