Down syndrome masked by Marfan syndrome in a neonate.

A male neonate with maternally inherited Marfan syndrome was also diagnosed with Down syndrome at 3 weeks of age. To our knowledge this is the first described case in the literature of the co-occurrence of Down syndrome and Marfan syndrome in a neonate. The diagnosis of Down syndrome was delayed and we hypothesise that Marfan syndrome had masked the usual phenotypic features of Down syndrome. The phenotype of this child is intriguing and has lead to speculation of the possible interaction of the two syndromes.

Endovascular stent placement is an acceptable alternative to reoperation in selected infants with residual or recurrent aortic arch obstruction.

OBJECTIVE: To describe endovascular stent placement in infants as a technically feasible option in circumstances where surgery is considered less favorable. BACKGROUND: Endovascular stent placement has become established as a first line therapy for native coarctation of the aorta or recoarctation in older children where stents capable of expansion to adult size can be placed safely. Surgery remains the therapy of choice in infants and young children. The management of aortic arch obstruction in infants is, however, frequently complicated by complex anatomy or clinical condition that may make surgery or further surgery an unattractive option. There is little reported data and the implications thereof of transcatheter stent placement in aortic arch obstruction in infants. METHODS: Between August 2004 and November 2009, 11 patients had aortic arch obstruction treated with endovascular stent placement. The median age and weight at first stent placement was 46 days (range 3-399 days) and 4 kg (range 1.4-8 kg), respectively. In 10 patients, surgical intervention preceded transcatheter stent placement. Four had complex aortic arch obstruction and seven had recoarctation. RESULTS: Reduction in peak systolic gradient to <10 mm Hg was achieved in seven of 10 patients with an improvement in aortic artery diameter to >90% of adjacent aorta in all. The diameter of the arch obstruction increased from a median of 1.60 to 4.90 mm (P = 0.001) and the peak systolic gradient from 45 mm Hg to 8 mm Hg (P < 0.0001). Adverse events occurred in two patients one who required further surgical revision and a second who required placement of a second stent. The median follow up was 3.60 years (range 0.4-5.5 years) with two patients having died at 1.34 and 1.42 years poststent placement. Of the nine patients alive, six have since undergone further angioplasty at a median time interval of 0.77 years (range 0.17-2.76 years). Long-term complications occurred in none. CONCLUSIONS: Endovascular stent placement in infants is technically feasible with good results achievable even in small babies. It should be considered as a therapeutic option in complex cases when surgical alternatives are less favorable.

Achalasia cardia in a premature infant.

Achalasia cardia is defined as a neuromuscular disorder of the oesophagus with abnormal motility and failure of relaxation of the distal oesophagus. It is an uncommon but well-recognised entity in infants and children. However, achalasia in a preterm baby has not been previously described. We report the condition in a premature infant with unusual presentation, treated successfully with Heller's oesophagomyotomy and fundoplication.