Primary hypophosphatemic rickets. Effect of oral phosphate and vitamin D on growth and surgical treatment.

Failure to diagnose and treat hypophosphatemic rickets during childhood resulted in stunted growth and progressive deformities of the lower limb. When the deformities were treated surgically, recurrent deformity and non-union of osteotomies developed, and further major opeative procedures were required to remedy these complications. Treatment from early childhood with oral phosphate and vitamin D improved the rate of growth and controlled the progression of bowleg deformity. Residual varus deformity was corrected by osteotomy through the proximal tibial metaphysis at skeletal maturity, when the results were predictable. Genu valgum deformity was corrected by stapling the medial part of the distal femoral epiphysis prior to skeletal maturity. With early postoperative mobilization and adequate medication, the complications of delayed tibial union and failure to correct the femoral valgus deformity were avoided.

The association of inflammatory bowel disease and X chromosomal abnormality.

Five patients with inflammatory bowel disease (IBD) had abnormalities of the X chromosome (the Turner syndrome). Based on the estimated prevalence rate of 1:10,000 live female births for the Turner syndrome and 1:50,000 for IBD, random association of these two conditions would be expected in 1:500 million live female births. Given these odds, the findings in these five patients would suggest a clinical association not based on pure chance and unlikely to be accounted for by Berkson's or other referral bias. It is speculated that abnormal immune mechanism could possibly increase the susceptibility of patients with Turner syndrome to develop IBD. Both conditions cause growth failure. Awareness of the association has clinical importance in identifying the cause of growth failure in a child with either X chromosomal abnormality or IBD.

Unsuspected nutritional rickets.

Based on the presentation and clinical features of four cases of nutritional rickets, it is suggested that particular groups of children, namely vegetarians, children breast-fed for an unusually long time, and black children, are at risk to develop the nutritional deficiencies of vitamin D and calcium that lead to clinical rickets. The diagnoses in these cases were made by fortuitous radiologic examination, even though the children had been receiving regular pediatric supervision, indicating a lack of awareness of the condition. This report is intended to emphasize the reemergence of nutritional rickets and to illustrate the different modes of its clinical presentation.

Evidence for defective immunoregulation in the syndrome of familial candidiasis endocrinopathy.

We studied three children with candidiasis endocrinopathy syndrome, together with their parents and five siblings, to explore the possibility that defective immunoregulation allows autoimmune phenomena to be involved in the pathogenesis of this syndrome. Inheritance of the syndrome appeared to be autosomal recessive. Immunologic abnormalities in this family included hypergammaglobulinemia, selective IgA deficiency, anergy, autoimmune endocrinopathies and active chronic hepatitis. Defective suppressor T-cell function was noted in the two surviving children with clinically apparent disease and in a clinically normal sibling. Analysis of the immunologic abnormalities in the family suggests that defective immunoregulation rather than disordered effector mechanisms may explain the large number of immunologic defects noted. These defects, in turn, may result in the clinical manifestation of the syndrome.

Noonan's syndrome associated with polycistic renal disease.

Noonan's syndrome is an eponymic designation that has been used during the last 8 years to describe a variable constellation of somatic and visceral congenital anomalies, which includes groups of patients previously referred to as male Turner's, female pseudo-Turner's and Bonnevie-Ullrich syndromes. It is now recognized that both sexes may show the stigmas of this condition and, unlike Turner's syndrome, there is no karyotype abnormality although there is often a familial pattern. The most commonly observed anomalies include webbing of the neck, hypertelorism, a shield-shaped chest and short stature. Congenital heart disease, principally pulmonary stenosis, and sexual infantilism often with cryptorchidism in the male subject are additional associated anomalies in this syndrome. Renal anomalies have been described rarely and usually consist of rotational errors, duplications and hydronephrosis. We report the first case of an infant who displayed many of the stigmas of Noonan's syndrome and also showed early evidence of frank renal failure secondary to renal dysplasia with cystic disease.