Misdiagnosed metabolic bone abnormality: a case report.

BACKGROUND: Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. CASE PRESENTATION: A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature. After extensive medical testing, she was given a diagnosis of hypophosphatemic rickets and growth hormone deficiency and started on treatment. Despite appropriate treatment, however, her condition continued to progress, prompting her family to pursue additional workup including genetic testing outside of Yemen. Genetic testing ultimately revealed a variation of unknown significance associated with amelogenesis imperfecta. CONCLUSIONS: Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. However, the patient's condition did not improve. Further genetic testing revealed a variation of unknown significance associated with amelogenesis imperfecta. We aim to present this case, provide an overview of the causes, and diagnostic metabolic bone health evaluation.

Congenital cardiac masses: a case report.

BACKGROUND: Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital cardiac tumors are rhabdomyomas. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care. CASE PRESENTATION: We report a 36-year-old African American pregnant women. At 32 weeks 5 days gestational age, the male fetus had a fetal echocardiogram due to fetal arrhythmia. The fetal echocardiogram showed two small echogenic, RV apex and septal masses, suspicious of rhabdomyomas. After a routine pregnancy and a normal spontaneous vaginal delivery (39 weeks 1 day), the male baby was admitted to the neonatal intensive care unit for further monitoring and postnatal evaluation. CONCLUSIONS: Rhabdomyomas are extremely rare and unique tumors. These tumors are very dangerous, but they usually regress after birth. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care. We present this case to share our findings with our pediatric colleagues. Although a rarely reported case, we hope this cardiac rhabdomyoma case report and literature review can increase cardiac tumor awareness.