A case of congenital hypothyroidism in PHACE syndrome

Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.     

A case of congenital nephrotic syndrome associated with partial deficiency of lecithin cholesterol acyltransferase (LCAT) and hypothyroidism

The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.     

A retrospective hospital-based study on congenital hypothyroidism in the Sultanate of Oman

A retrospective study was conducted on 45 children with congenital hypothyroidism (CH) to estimate the number of missed cases of CH among Omani children per year and compare the intellectual outcome of children diagnosed by neonatal screening (Group A) with those who were diagnosed clinically at a later age (Group B). Our results revealed 14 children in Group A, diagnosed at a mean age of 2.3 +/- 0.8 months and 31 children in Group B diagnosed at a mean age of 9.8 +/- 2.5 months. IQ assessment revealed that 67 per cent of the children in Group A had a normal IQ compared to only 15 per cent of those in Group B. The above results point to a great demand for a national screening programme in the Sultanate of Oman.