Sigrid Jequier

Nephrocalcinosis and its relationship to treatment of hereditary rickets

Renal ultrasonography was performed on 23 patients with X-linked hypophosphatemic rickets (XLH) and 11 patients with autosomal recessive vitamin D-dependent rickets (ARVDD). A pattern of increased echogenicity of the renal pyramids (ERP) was identified in 11/23 patients with XLH and 3/11 patients with ARVDD; this ultrasonographic finding has previously been associated with medullary nephrocalcinosis. Patients with XLH and ERP had significantly higher mean serum calcium and phosphate concentrations, more frequent episodes of hypercalcemia, and higher doses of oral vitamin D and phosphate during the first 3 years of therapy. Episodes of hypercalcemia were more frequent when patients received higher doses of vitamin D2 (greater than 4000 IU/kg/day) or 1,25-dihydroxycholecalciferol (greater than 40 ng/kg/day). Episodes of hypercalciuria were significantly increased at doses of greater than 20 ng/kg/day 1,25-dihydroxycholecalciferol. In patients with ARVDD, ERP was also correlated with vitamin D dose and frequency of hypercalcemia episodes. ERP was not associated with an elevation of serum creatinine or loss of urinary concentrating ability in either patient group.

A familial syndrome of cranial, facial, oral and limb anomalies.

A family is described in which two male infants have microcephaly, abnormal ears, anti‐mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome.

Ultrasound demonstration of prenatal renal vein thrombosis

Renal calcification following renal vein thrombosis (RVT) has a virtually diagnostic lace-like radiological pattern. It has been seen as early as the first day of life [1–3], indicating prenatal disease. This case report illustrates the sonographic appearance of such calcifications which to our knowledge has not been described. We observed abnormalities on aprenatal ultrasound at 37 weeks of gestation and calcifications within the kidney on ultrasound during the neonatal period in an infant of a mother with Class B diabetes mellitus.

Increased renal medullary echogenicity in patients with Williams syndrome

Williams syndrome is characterized by peripheral artery stenosis such as supravalvular aortic stenosis, a distinctive dysmorphic facies, mental retardation and occasionally by transient infantile hypercalcemia. Twenty-five children with this syndrome underwent abdominal ultrasound examinations in our institution between 1983–1988. Five showed an increase in the renal medullary echogenicity consistent with medullary nephrocalcinosis. The echogenicity did not change with time. Two of the five had documented hypercalcemia in infancy. The other three did not have calcium measurements in infancy. No patient with normal serum calcium measurements during infancy developed nephrocalcinosis. Renal ultrasound may add information as to the incidence of infantile hypercalcemia in Williams syndrome.

Metaphyseal chondrodysplasia with ectodermal dysplasia

The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete alopecia was described in 1966 by Bellini. A second identical case was found in another Italian patient. Both show extremely early epiphyseal fusion. This is probably a new form of metaphyseal chondrodysplasia.

Non-surgical treatment of a congenital splenic cyst

A congenital splenic cyst in a 5.5 year old girl was aspirated under ultrasonographic guidance and injected with 150 mg Tetracycline (intended for IV use). Septation and gradual resorption of the cyst occurred during the following weeks, leaving small residual cysts which have remained stable for the last 12 months. Splenectomy and its possible complications were avoided.

Renal ultrasound in metabolic bone disease

Fifty-one patients aged 1 year to 56 years with metabolic bone disease underwent renal ultrasound. Medullary nephrocalcinosis was found in nine of 24 patients with X-linked hypophosphatemic rickets and is considered to be iatrogenic, related to vitamin D therapy. Another three in this group of 24 with both medullary and cortical increased renal echogenicity had suffered from repeated episodes of vitamin D intoxication and had secondary hyperparathyroidism. Nephrocalcinosis was less frequent in patients with treated vitamin D-dependent rickets or hypophosphatemic bone disease where generally smaller doses of vitamin D are given. Patients with pseudohypoparathyroidism, on small doses of vitamin D, had a normal renal ultrasound. In cystinosis and Fanconis syndrome, the kidneys are small, echodense (both the cortex and medulla) with a tendency to cyst formation.

Prenatal renal ultrasound of Laurence-Moon-Biedl syndrome

Large echogenic kidneys mimicking infantile polycystic kidneys were seen on prenatal ultrasound examination in a patient subsequently found to be affected by Laurence-Moon-Biedl syndrome.

Factors associated with renal parenchymal echogenicity in the newborn.

A prospective renal ultrasound study of 134 newborns (49 prematures weighing less than 2500 g and 85 more mature babies) was undertaken to investigate factors associated with increased renal cortical echogenicity (RCE). Increased RCE was seen in 39 (29 per cent) babies. It was significantly related to body weight, age, medical status, blood urea nitrogen, and serum creatinine. In view of the interdependence of these factors, however, multivariate analysis was performed, which revealed that age was the most important factor associated with increased echogenicity (r = ‐0.46), and the other factors had only small independent effects, increasing the multiple r to 0.56. The authors conclude that an infants immaturity is the most important determinant of increased RCE.

Unusual case of urethral duplication

We present a case of unique penile malformation, a child with common prostatic urethra with two normal, double urethras parallel to one another with a bifid glans penis. This case emphasizes how abnormal embryology can contribute to our knowledge of normal development.