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Progressive diaphyseal dysplasia is characterized clinically by crippling leg pain, fatigue, headache, poor appetite, muscle weakness, and waddling gait. Twelve affected patients, aged 2 years 4 months to 40 years, were treated with intermittent courses of low doses of prednisone given in a single dose on alternate mornings for periods ranging from 6 months to 10 years. The average initial dose of prednisone was 0.6 mg/kg/d, and average maintenance dose was 0.3 mg/kg/d. Relief of all crippling symptoms was achieved in all patients. No untoward serious side effects have been observed, and the growth of children was not slowed. However, corticosteroid therapy should be restricted to patients suffering from crippling pain. The mechanism through which steroids act remains undefined.

An eight-year-old boy with supravalvular pulmonic stenosis, supravalvular aortic stenosis, and ventricular septal defect developed Staphylococcus aureus endocarditis. The infection was complicated by formation of a false aneurysm of the right ventricular outflow tract, which was demonstrated by contrast echocardiogram. Surgical treatment was successful. This is a unique case of false aneurysm of the outflow tract of the right ventricle, because it is secondary to endocarditis without known previous trauma to the right ventricular wall.

Pyomyositis appears to occur rarely in temperate climate areas, compared with the incidence of the disease in the tropics. Three young adults with pyomyositis have previously been described in Israel, two of them were newly arrived Ethiopian immigrants. We report three Israeli children with pyomyositis, who presented initially with nonspecific abdominal pain; in one child the course was complicated by spinal cord compression due to extension of the infected mass into the spinal canal. All three patients attained full recovery after antibiotic therapy and surgical drainage. Computed tomography was most valuable in establishing the diagnosis and defining the extent of the process.

The effects of full short-term antibiotic treatment on cerebrospinal fluid (CSF) findings were studied retrospectively in 68 children with acute bacterial meningitis. The features of CSF at admission were compared with those of the CSF obtained after 44-68 hours of therapy. Except in one case with H. influenzae and one case with pneumococcal meningitis, all CSF cultures were negative in the repeat specimen. In three of 16 children with meningococcal meningitis, the CSF glucose levels became normal in the second specimen. In all remaining 65 children, however, full intravenous antibiotic treatment for 44-68 hours did not alter the biochemistry and cytology of the CSF, which retained its "bacterial" character. From these findings it may be discerned that partial antibiotic treatment is even less likely to distort a 'bacterial' CSF.

We report on a discordant twin male with neurofibromatosis and manifestations of the Noonan syndrome. He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. The presence of neurofibromatosis associated with Noonan syndrome phenotype in our patient raises the question of a unique disorder sharing characteristics of both conditions.

Different rates of renal involvement in the Henoch-Schönlein syndrome have been reported in the literature. We assessed renal involvement during the initial attack of this disease in 71 children in northern Israel, and reevaluated 69 of them after an interval of one to eight years. The mean age at onset was higher than in other reports, and there was a clustering of cases in the late summer and early autumn. During the acute phase of the illness, involvement of the kidney was apparent in only seven patients (9.8%), and only one of these (1.4% of those followed up) showed evidence of continuing renal damage. Patients without initial renal involvement did not subsequently develop renal disease. The remarkably low rate of acute and continuing renal damage in our study as compared with other reports may stem from local variations in causative factors. In our experience, long-term follow-up beyond one year seems warranted only in those patients who had renal involvement during the initial attack.

Following several unsuccessful postnatal attempts at anoplasty to correct anal atresia with a rectovaginal fistula, the patient, 20 years later, underwent an anorectal sphincteric construction using a gracilis-muscle transplant. The five-stage procedure, which extended over a period of two years, resulted in highly satisfactory continence and full social rehabilitation of the patient. The continence achieved in this case seems to be in contradiction to some of the accepted concepts of the mechanisms of continence.

A case of transomental strangulation in an 8-yr-old boy is presented with a review of the pertinent literature. The clinical presentation was that of an intestinal obstruction. A gastrografin study indicated the necessity of immediate surgery. Etiologic aspects and nomenclature controversies are briefly discussed.

We analyzed the antibiotic susceptibility of 5,348 urinary isolates of Escherichia coli, "Klebsiella aerogenes," and Proteus mirabilis grown in three laboratories from 1980 to 1985. A continuous rise in resistance to trimethoprim-sulfamethoxazole was observed; 63% of the strains from inpatients in 1984 and 51% of those from outpatients in 1985 were resistant to this drug. Isolates from outpatients in 1985 were mostly susceptible to nitrofurantoin (mean susceptibility, 92%) and to oral cephalosporins (mean susceptibility, 84%). As for isolates from inpatients, none of the antimicrobial agents now used was satisfactory for initial chemotherapy, indicating a need for new antibacterial strategies.

An infant with high anal atresia and transverse colostomy, in whom initial radiologic evaluation of the urinary tract had been normal, developed hyperchloremic metabolic acidosis at 24 days of age. Gastroenteritis and renal tubular acidosis as possible causes for this metabolic disturbance were excluded, which prompted a repeat investigation of the possibility of a communication between the urinary tract and the rectum. A recto-urethral fistula was demonstrated by urethrography. Analysis of the fluid obtained from the left colon as compared to urine in the bladder and voided urine demonstrated that electrolyte exchange was taking place in the colon, resulting in hyperchloremic hypokalemic acidosis. Treatment with oral sodium bicarbonate and daily lavage of the left colon resulted in normalization of the acid-base status and catch-up growth of the baby. Hyperchloremic acidosis associated with anal atresia and recto-urinary communication appears to be uncommon. However, early diagnosis and treatment of the metabolic derangement are of importance as it may determine the infant's overall prognosis.

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

Zinc protoporphyrin (ZPP) levels of greater than or equal to 40 micrograms dl-1 were found in blood samples of 32 (12.1%) out of 264 children living in Kiryat Yam, Haifa Bay (a sea-level neighborhood with much vehicular traffic, located 4.5 km from an industrial zone in the bay area), 22 (8.8%) out of 251 children living in Neve Shaanan (located on a mountainside, 3.5 km from an industrial zone and exposed to visible smoke pollution), and 14 (6.5%) out of 214 children from Mt Carmel (Ahuza), which is furthest from industry and where visible signs of pollution are seldom seen. Zinc protoporphyrin levels, low in non-anemic infants, were slightly higher in 1st graders from all three neighborhoods; higher levels were found in both 3rd and 6th graders from Kiryat Yam, but only in 6th graders from Neve Shaanan. The ZPP levels remained unchanged in older, Mt. Carmel children. Zinc protoporphyrin concentrations of greater than or equal to 40 micrograms dl-1 varied inversely with two indices of socio-economic status (parental ethnic origin and father's educational level). Blood lead levels of greater than or equal to 20 micrograms dl of blood were found in eight (13%) out of 62 children with ZPP levels greater than or equal to 40 micrograms dl-1, but in none (0%) of 14 children with ZPP levels greater than or equal to 40 micrograms dl-1. Three (60%) out of five children with ZPP levels greater than or equal to 50 micrograms dl-1 had Pb levels of greater than or equal to 20 micrograms dl-1. In Kiryat Yam, Pb(B) was higher in 31 children with ZPP greater than or equal to 40 micrograms dl-1 compared with 13 with ZPP less than 40 micrograms dl-1. The data on age-associated increases in ZPP in children suggest the possibility of an effect on red blood cell porphyrin metabolism, in some cases from cumulative low level lead exposures, and in others from iron deficiency, especially in poorer socio-economic groups. The findings call for further studies, both in the populations studied here, and elsewhere, to determine the role of lead toxicity and iron deficiency in children of all age groups, and the need for preventive action.

A model of nonischemic hypoxia of the jejunum was designed in dogs, by shunting of blood from the inferior vena cava directly into the regional mesenteric arterial supply, thereby lowering the PaO2 of the blood that reached the jejunal wall from 98.6 +/- 3 to 62 +/- 5 mm Hg. Absorption rates of sodium, glucose, fructose, glycine, and the dibasic aminoacid lysine were studied by in situ luminal perfusion of a 30-cm proximal jejunal segment with a bicarbonate buffer solution containing phenol red as a nonabsorbable marker for determination of water fluxes. During periods of control, hypoxia, and after discontinuation of the venoarterial admixture (recovery), effluent perfusate was collected and mucosal biopsies were obtained for assay of lactase, maltase and sucrase activity, mucosal ATPase activity and ATP content, and for light- and electron microscopic examination. Mesenteric supply with hypoxic blood was associated with a significant inhibition of Na+,K+-ATPase activity (p less than 0.001) and a rise in mucosal ATP content (p less than 0.05). There was a significant reduction in the absorption rates of sodium (p less than 0.001), glucose, and glycine (p less than 0.01), but no change in the transport of fructose and of lysine. Brush border enzymes were unaltered. The histological appearance of the mucosa remained normal throughout the experiment, but on electron microscopy a distinct swelling of the enterocyte mitochondria was noted during the hypoxia period.(ABSTRACT TRUNCATED AT 250 WORDS)

Nephrocalcinosis was observed in 3 children of one family with distal renal tubular acidosis (dRTA). At presentation, all 3 patients had failure to thrive, rickets, hyperchloremic metabolic acidosis, hypokalemia, hypophosphatemia and hypercalciuria. At a later age, sensorineural hearing impairment was detected. Nephrocalcinosis was diagnosed in the index case at the age of 5 years, when a plain abdominal roentgenogram was first made; in the younger brother and sister, nephrocalcinosis was detected earlier at the age of 4 months and 5 weeks, respectively. All 3 patients required large doses of alkali (7.5-9.5 mEq/kg body weight/day) during infancy and early childhood to correct the acidosis and to prevent progression of the nephrocalcinosis. Contrary to the current notion that in children with dRTA, nephrocalcinosis is observed only after the age of 3 years, it appears that in some instances nephrocalcinosis may develop in early infancy. The occurrence of nephrocalcinosis at a very young age may be a manifestation of a severe genetically transmitted variant of dRTA and emphasizes the need for early diagnosis and optimal treatment of these patients from the first days of life.

In a previous study of the radiologic evaluation of children with urinary tract infection it was recommended that IVP be performed in all patients with either abnormal ultrasonographic or voiding cystourethrographic findings. However, the benefit from IVP was believed to be questionable in children with normal ultrasonography findings and vesicoureteral reflux of only a low grade (I or II of V). To gain a better understanding of the need for IVP in the radiologic evaluation of such children, the database was expanded and the findings concerning ultrasonography and IVP were analyzed in 52 children with urinary tract infection and vesicoureteral reflux seen during the last 3 years. Of a total of 72 instances of reflux, 44 (61.1%) were of low grade (I or II), 14 of medium grade (III), and 14 of high grade (IV or V). Of the 44 urinary systems with low-grade reflux, results were as follows: renal ultrasonography appeared normal in 38 and in 34 of these, the IVP also appeared normal; in the other four, only minor and negligible changes were seen with IVP. Surgical intervention was not necessary in any of these 38 urinary systems. In six systems with low-grade vesicoureteral reflux but with abnormal ultrasonography findings, IVP results were also abnormal, and surgery was necessary in two instances. Of the 14 urinary systems with medium-grade reflux, ultrasonography appeared normal in ten but in six of these the IVP appeared abnormal.(ABSTRACT TRUNCATED AT 250 WORDS)

The spondylometaphyseal dysplasias are a very heterogeneous group of disorders. Only one has been clearly defined, namely, the spondylometaphyseal dysplasia--Kozlowski type, known also as the "common type." This disorder is inherited as an autosomal dominant trait. In this report we describe an Arabic-Moslem kindred with spondylometaphyseal dysplasia, not of the common type, with an autosomal dominant mode of inheritance, indicating further heterogeneity.