ABSTRACT
In 1998, a multiprofessional group developed a consensus on growth monitoring in the UK. While routine serial measurements were not recommended in healthy children, it is clear that there is a subset of children at increased risk of growth-modifying disease who may benefit from growth monitoring. This subset includes children with genetic disorders at increased risk of thyroid dysfunction. Symptoms and signs of thyroid dysfunction are non-specific in the early stages of disease and are easily mistaken for features of an underlying genetic disorder. In this article, we report the case of a 2.8-year-old girl with 18q deletion syndrome who was profoundly weak, hypotonic and poorly responsive at diagnosis of Grave's disease. She was tall and her bone age was 2 years advanced, indicating long-standing disease. Growth monitoring of this patient should have enabled earlier diagnosis and avoided a serious and potentially fatal episode.
Subject(s)
Chromosome Disorders/complications , Delayed Diagnosis , Graves Disease/diagnosis , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 18 , Female , Graves Disease/complications , Growth Charts , HumansABSTRACT
We present a case of aortic dissection with shock due to cardiac tamponade in a previously healthy 15-year-old male. The diagnosis was suspected and confirmed by transthoracic echocardiography before transfer to the cardiothoracic unit for successful surgical intervention. Because it is a rare life-threatening condition with a high mortality rate in the pediatric population, a very high index of suspicion is required to reach the clinical diagnosis in a timely manner and institute appropriate surgical management.
