J. P. Langhendries

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith‐Wiedemann, Denys‐Drash, Simpson‐Golabi‐Behmel, Perlman and possibly Meacham‐Winn syndromes. Simpson‐Golabi‐Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson‐Golabi‐Behmel syndrome. Differential diagnosis between the above‐mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for longterm survey of patients suspected of having Simpson‐Golabi‐Behmel syndrome, who could be at risk for embryonic tumours.

A scoring system in predicting the risk of intestinal stricture in necrotizing enterocolitis

Of 46 infants with a diagnosis of necrotizing enterocolitis (NEC) admitted to the neonatal intensive care unit over the period 1981–1985, 40 have been followed from 2 to 6 years after the acute episode. A contrast enema (CE) to look for intestinal strictures (IS) was performed either during the first months in surgically managed patients, or between 2 and 6 years in asymptomatic patients. Clinical, laboratory and radiology parameters collected during the 7 days following NEC were used to establish a score which was correlated with radiological data obtained after CE. Of the 40 infants, 17 developed symptomatic or asymptomatic IS and 16 of these 17 infants has a score ≥7. Nineteen of the 23 patients without IS had a score <7. We conclude that the proposed score established on day 8 after onset of NEC helps to identify infants at higher risk of developing IS and for whom closer follow up appears necessary.

Aminoglycoside nephrotoxicity and urinary excretion of N-acetyl-beta-D-glucosaminidase

The purpose of this paper is to discuss briefly the mechanism of aminoglycosides nephrotoxicity. This kind of antibiotic seems to act preferentially on the phospholipid metabolism of the proximal tubular cell. A lysosomal enzyme, N-acetyl-beta-D-glucosaminidase, could be of interest in assessing this renal interference.

Digoxin-like immunoreactive substance in serum of preterm and full-term neonates

A significant serum level of digoxin-like immunoreactive substance (DLIS) (≥0.5 ng/ml) has been found in healthy full-term neonates, in prematurely born neonates as well as in full-term but small for gestational age neonates. Neither the babies nor their mothers had received digoxin therapy. On the first day of life, the incidence of serum levels of DLIS≥0.5 ng/ml in the three groups of neonates were respectively 64% (32/50), 42% (8/19) and 77% (10/13). Longitudinal measurements in preterm and small for gestational age neonates indicate a progressive disappearance of DLIS from their serum, none of them having a significant serum level at 21 days of age. As long as the chemical structure, origin and physiological properties of DLIS remain unknown, clinicians must be cautious in interpreting the serum levels of digoxin used for therapeutical purpose in neonates.

Normal values for urinary N-acetyl-beta-glucosaminidase excretion in preterm and term babies.

Urinary N-acetyl-beta-glucosaminidase (NAG) excretion was measured in 14 healthy, preterm, male neonates with gestational ages between 32 and 35 weeks. Daily NAG excretion increased significantly during the first four weeks of life. No correlation was observed between urinary NAG:creatinine ratio and postnatal age regardless of whether measurements were taken from the whole 24 hour urine collection or from an isolated urine spot sample at the same time on each day. When the preterm infants were compared with a group of 20 healthy, full term, male infants at a postnatal age of 7 days the NAG:creatinine ratio was significantly higher in the preterm group, the measurements having been taken from single urine spot samples. We suggest that this variable be used in the evaluation of renal tubular integrity during the neonatal period.

Validity of N-acetyl-beta-D-glucosaminidase (NAG) determination in assessing netilmicin nephrotoxicity in preterm babies

The supposed nephrotoxicity of netilmicin has been assessed in preterm neonates using the urinary excretion of a lysosomal enzyme as marker: N-acetyl-beta-D-glucosaminidase (NAG). 17 male preterm neonates with birth weight appropriate for gestational age were enrolled in a study where 9 received netilmicin therapy since the first day of life and 8 served as control group. We observed a significant increase in urinary NAG/creatinine ratio during the postnatal days in the netilmicin group babies followed by a regular decrease during the days after the end of therapy. If this increase in lysosomal enzymuria such as NAG could reflect netilmicin nephrotoxicity on the proximal tubular cell, many questions remain unanswered about the exact significance of this finding. In particular, its relation with tubular cell dysfunction remains to be established.

Successful treatment of intrauterine supraventricular tachycardia and hydrops fetalis with digoxin

ECG tracings. H L A type was A 1/10, B 8. Additional clinical and laboratory data are detailed in Fig. 1. An E E G obtained during a febrile episode showed non-specific abnormalities which disappeared within 10 days. The child was irritable and temporarily somnolent but recovered within 2 weeks. Colonoscopy was repeated and again showed swelling, redness and bleeding of the mucous membranes. Allergy skin tests were performed 2 months later. No reactions to penicillin, salazosulphapyridine and phenazone were observed. Though the concurrence of ulcerative colitis and Kawasaki syndrome may be coincidental, the question of common pathogenetic factors arises. In particular, we think of abnormal immune reactions which may play an important role in both conditions. Thus circulating immune complexes have been found in 30%-50% of patients with the Kawasaki syndrome [3]. During the active stage of the disease, complement levels are depressed and inversely correlated to the severity of its manifestations. On the other hand, Kawasaki-like lesions have been produced in animals exposed to acetaminophen and Pseudomonas bacteria [1, 2]. We would be interested to learn of a similar association in other patients, which would support our suspicion that the pathogenesis of both conditions is related.