Poland Sequence consists of a congenital absence of the pectoralis major muscle. Classically, the sequence also includes ipsilateral hand anomalies. Identified patients may be screened for renal and other anomalies. The condition results in physical and cosmetic disabilities which can be treated if properly triaged. The chest wall anatomy may be delineated with computed tomography and MRI if surgery is planned. Two cases with unusual findings including lumbosacral spine malformation and contralateral hand syndactyly are presented.

Adult↗

PubMedDate not supplied

Neonatal hyperbilirubinemia caused by pyruvate kinase deficiency.

We report an infant with neonatal hyperbilirubinemia due to pyruvate kinase deficiency. The initial approach involved rapid evaluation, phototherapy, and close monitoring of serum bilirubin levels. Follow-up included maintenance on folic acid, monitoring blood counts, and educating the parents about the course of pyruvate kinase deficiency, especially aplastic crisis. We suggest that the informed family practitioner can manage neonatal hyperbilirubinemia and pyruvate kinase deficiency with referrals at critical times to pediatric or surgical specialists. The practitioner must be able to recognize quickly the need for exchange transfusion for severe jaundice and for blood transfusions or splenectomy when significant anemia or aplastic crisis occurs.

Exchange Transfusion, Whole Blood↗