Early diagnosis and early therapy in congenital cretinism.

How soon can the diagnosis of congenital cretinism be made? Isolated cases have been diagnosed at birth (Abels, 1911). There is a photograph in Potter's (1952) monograph showing an infant at the age of I month with the typical facies; the case had been diagnosed and, judging by a later view, successfully treated by McIntosh (1952). Wieland (1940), who has great experience, claims that he observed some six or eight cases aged between 3 and 5 months, where the diagnosis was obvious at first sight. All these patients had previously been under the observation of other physicians for symptoms which definitely or very probably were connected with congenital cretinism. Wieland's most successful case, from the therapeutic point of view, was diagnosed and treated from the age of 5 months. According to Higgins and Ingalls (1948) 'the first signs of cretinism will appear at the age of about 2 months, although the condition is seldom diagnosed before the child is 5 months old'. Many larger series, especially of an early date, contain only few with an early diagnosis and therapy, e.g. Marvel's (1939) from Oslo. A fairly large series from Sweden (d'Avignon and Melin, 1949) with 22 cases includes 10 with a diagnosis made before the age of 5 months. Why is the diagnosis so often made so late? Frequently the parents do not consult the physician early enough. Another and usual reason is that the physician does not recognize the picture of the disease at its early stage of development. This certainly also applies to paediatricians with great experience. Cases of congenital cretinism are so rare that only one or two per annum are diagnosed at the larger children's hospitals in Scandinavia. Finally, there are cases of mild congenital cretinism where the typical symptoms do not develop until later on, at the end of the first year of life or later. 0 In a previous paper (Akerren, 1954) I have been able to point out the frequent coincidence between congenital cretinism and icterus neonatorum prolongatus with a remarkable duration. In this investigation I combined 10 cases of congenital cretinism which also had shown signs of icterus with a duration of at least six weeks, but otherwise, as far as could be judged, of a physiological type. At an investigation carried out at the Children's Hospital of Gothenburg, including 946 newborn infants who were closely studied for the occurrence and duration of physiological icterus, Beskow, among others, found that the mean duration of icterus which lasted at least 48 hours was 11-37 6-20. A duration of physiological icterus exceeding about 30 days must thus be very rare. As shown in Table 1, early diagnosed cases of