Ephrem Eggermont

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

Identical twin-sisters (born at 36 wks; birthweight 2.2 and 3.0 kg) presented at 2 years of age with marked psychomotor retardation and bone-age of 1 year. Physical growth and phenotype were normal. Repeated investigations revealed: markedly fluctuating basal serum prolactin (778-5652 μU/ml; nl < 800), FSH (17-55 mIU/ml; nl < 10) and GH (2-144 ng/ml; nl < 10), but normal LH; low TBG (1.1 and 1.2 mg/dl; nl 1.6-2.4) also present in the father, with otherwise normal thyroid function including TRH test, arylsulphatase A moderately increased in serum (mean 293 and 272 nmol/ml; nl 30-130) but not in leukocytes, without increase of other lysosomal enzymes, and increasing CSF protein. Normal results were found for GH response to i.m. glucagon, urinary excretion of 17-keto and 17-hydroxysteroids, at funduscopy and for lymphocyte karyotype (Giemsa banding), buffy coat of blood leukocytes and electronmicroscopy of conjunctiva. Sella tursica was normal on x-ray. Cortical and cerebellar hypotrophy was evident on CAT-scan. Electromyography was normal but nerve conduction velocity was delayed (30-31 m/sec; nl 50 ± 1). A nerve and muscle biopsy is planned. At this stage we have no satisfactory explanation for these unusual findings.

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

Identical twin-sisters with evidence of a demyelinating disease showed multiple serum glycoprotein abnormalities. The association of a low serum iron level and a normal blood haemoglobin suggested an abnormality of transferrin too. This was confirmed by finding a sialic acid-deficiency of this glycoprotein in serum as well as in cerebrospinal fluid.

A new chromosome anomaly in acute lymphoblastic leukemia (ALL)

SummaryA new chromosome anomaly in acute lymphoblastic leukemia (ALL) is reported. Three, possibly four, patients showed an identical karyotype anomaly, characterized by a (4;11)(q13;q22) reciprocal translocation. This anomaly has not so far been found in lymphoproliferative disorders other than ALL. Two of the patients had congenital leukemia, but the anomaly described appears to be more characteristic of ALL than of congenital leukemia, and may help the clinician in establishing the diagnosis of ALL.

Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies

Abstract Using thin-layer chromatography, gas-liquid chromatography and mass spectrometry, trihydroxycoprostanic acid (3α, 7α, 12α-trihydroxy-5β-cholestan-26-oic acid) was identified in the duodenal fluid of 2 subjects with anomalies of the intrahepatic bile ducts. Sugject I was a case of intrahepatic cholestasis due to atresia of the interlobular bile ducts with familial incidence. The bile acid spectrum in the duodenal fluid of this patient was: 23% chenodeoxycholic acid, 58% cholic acid and 19% trihydroxycoprostanic acid. Subject 2 had a Zellweger-like syndrome with cholestasis and with scarely developed intrahepatic bile ductuli. The bile acid spectrum in the duodenal fluid of this patient was: 18% chenodeoxycholic acid, 37% cholic acid and 45% trihydroxycoprostanic acid. No trihydroxycoprostanic acid was found in seven healthy subjects, in three cases of cholestasis of infancy, or in ten cases of various disorders of the small intestine. Obviously, the excretion of trihydroxycoprostanic acid with the bile of Patients 1 and 2 was due to a reduced capacity of the hepatocytes to split off the 3 terminal carbon atoms of the side chain of trihydroxyprostanic acid. The cause of the impaired function of the hepatocytes remains to be established.

The 13C-octanoic acid breath test : A noninvasive technique to assess gastric emptying in preterm infants

Gastric emptying (GE) is difficult to evaluate properly in preterm infants because of the lack of safe and reliable noninvasive methods. The 13C-octanoic acid breath test, a noninvasive method to assess GE, was validated in adults. The aim of this study was to adapt the methodology of the 13C-octanoic acid breath test regarding test meal and sampling methods and to define normal values for healthy preterm infants. We tested 11 clinically stable preterm infants who demonstrated normal fetal growth. The infants mean gestational age at birth was 33 weeks, mean birth weight was 1754 g, mean postnatal age at the day of study was 26 days, and mean weight was 2296 g. After a fasting period of 3 h, the subject was fed a test meal with low and stable 13C background activity mixed with 50 microliters of 13C-labeled octanoic acid and 1 g polyethylene glycol 3350. Breath samples were collected using a nasal prong in basal conditions and after the test meal. CO2 production according to weight and age was used in the calculations for 13CO2 enrichment of exhaled air. Results were expressed as percentage of 13C dose excretion per hour and percentage of cumulative 13C after 4h. gastric emptying coefficient (GEC), and gastric half-emptying time (t1/2b). The values for percent of cumulative 13C after 4 h ranged from 30.7 to 52.6% (mean, 40.2%), GEC ranged from 2.7 to 3.4 (mean, 3.0), and the values for t1/2b ranged from 17 to 100 min (mean, 57 min). We conclude that the 13C-octanoic acid breath test can be adapted to preterm infants to allow the study of GE in various conditions.

Dopamine Inhibits Growth Hormone and Prolactin Secretion in the Human Newborn

ABSTRACT: Dopamine is frequently used in neonatal intensive care for its vasopressor, renal vasodilating, and cardiac inotropic properties. The effect of i.v. dopamine infusion on neonatal pituitary hormone secretion is currently unknown. We observed strikingly low serum concentrations of growth hormone (GH) and prolactin (PRL) during a therapeutic, standardized, isovolumctric, partial exchange transfusion (blood sampling every 20 min for 6 h) in two polycythemic neonates requiring intensive therapy, including continuous dopamine infusion. In addition, the secretion of GH and PRL was studied in three neonates with symptomatic polycythemia (gestational age 34–38 wk; birth weight 2110–2530 g; postnatal age 10–30 h) during a partial exchange transfusion, including an intervening dopamine infusion (8 μg/kg/min i.v. for 2 h). The GH and PRL profiles were evaluated by deconvolution analysis. Initially, the three newborns exhibited high-amplitude, pulsatile GH secretion and continuously elevated PRL release. During the dopamine infusion, GH secretion was virtually abolished and PRL release was reduced by at least 50%. Dopaminc withdrawal was associated with a rebound release of GH and PRL. Finally, scrum GH and PRL concentrations were studied in nine nonpolycythemic newborns (gestational age 31–40 wk; birth weight 1680–4000 g; postnatal age 2–28 d) at the end of a prolonged dopamine infusion (3–5 μg/kg/min i.v. for 2–27 d). Within 2 h after dopamine withdrawal, GH and PRL levels increased a median 3-fold and 10-fold respectively. These data concord to indicate that dopaminc is a potent inhibitor of GH and PRL secretion in the human newborn.

Feeding behaviour in preterm neonates

In 100 bottle-fed preterm infants feeding efficiency was studied by quantifying the volume of milk intake per minute and the number of teat insertions per 10 ml of milk intake. These variables were related to gestational age and to number of weeks of feeding experience. Feeding efficiency was greater in infants above 34 weeks gestational age than in those below this age. There was a significant correlation between feeding efficiency and the duration of feeding experience at most gestational ages between 32 and 37 weeks. A characteristic adducted and flexed arm posture was observed during feeding: it changed along with feeding experience. A neonatal feeding score was devised that allowed the quantification of the early oral feeding behavior. The feeding score correlated well with some aspects of perinatal assessment, with some aspects of the neonatal neurological evaluation and with developmental assessment at 7 months of age. These findings are a stimulus to continue our study into the relationships between feeding behaviour and other aspects of early development, especially of neurological development.

The glucagon stimulation test: Effect on plasmagrowth hormone and on immunoreactive insulin, cortisol, and glucose in children

Plasma growth hormone (GH), immunoreactive insulin (IRI), cortisol, and glucose were studied before andafter the intramuscular injection of glucagon (0.1 mg. per kilogram) in 80 prepubertal children. Glucose, IRI, GH, and cortisol values rose after the injection of glucagon in normal children. Peak levels were observed at 30 minutes for glucose and IR1, at 120 minutes for GH, and at 180 minutes for cortisol. Blunted responses of GH were observed in some patients with hypothyroidism or celiac disease. Hypopituitary patients had a normal response of glucose and of IR1 but not of plasma GH; plasma cortisol levels incresed following glucagon administration in those patients who otherwise had normal corticotropin reserve. In 32 of 38 children without pituitary disease, GH responses were higher to glucagon than they were to induced hypoglycemia. It is concluded that the glucagon stimulation test is a safe, easy, and reliable test to study pituitary GH reserve in children.

Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders

Abstract Reye syndrome, characterised by the combination of liver disease and non-inflammatory encephalopathy, is a non-specific clinicopathological entity and a descriptive term covering a group of heterogeneous disorders. Nowadays, some of these patients are diagnosed more correctly as having infectious, metabolic, toxic or other disease. The non-specific case definition implies that the epidemiological studies suggesting a link with acetylsalicylic acid have been performed on a heterogeneous group of children, whereby the value of these studies and their ensuing hypothesis is weakened. Moreover, a detailed analysis of the epidemiological surveys of the Centers for Disease Control, the Yale study and of the British risk factor study provides evidence that not only the use of acetylsalicylic acid but also that of phenothiazines and other anti-emetics is significantly greater in Reye syndrome cases than in controls. As to the decline of Reye syndrome, recent literature data reveal that this is related to more accurate modern diagnosis of infectious, metabolic or toxic disease, reducing the percentage of idiopathic or true cases of Reye syndrome. Conclusion Reye syndrome is a non-specific descriptive term covering a group of heterogeneous disorders. Moreover, not only the use of acetylsalicylic acid but also of antiemetics is statistically significant in Reye syndrome cases. Both facts weaken the validity of the epidemiological surveys suggesting a link with acetylsalicylic acid.

Sensorineural hearing loss in sporadic congenital hypothyroidism.

Hearing acuity was assessed in 45 children with sporadic congenital hypothyroidism during adequate long-term treatment. Otoscopy was performed in each and additional tympanometry in some of them. Secretory otitis media was found in 6 and was treated medically or by inserting grommets in the eardrum. In these children, hearing acuity was assessed after the otitis had been cured. Hearing acuity was measured either by conventional monoaural pure-tone audiometry (125-8000 Hz) or by binaural free field testing depending on the childs age (above and below 4 years respectively). Hearing was normal in 36 (80%) children. In the remaining 9, sensorineural hearing loss to some degree was detected affecting the higher frequencies in particular. Perceptive deafness required the use of a hearing aid in 4 children. No relationship could be found between hearing acuity and chronological age or bone age at diagnosis of congenital hypothyroidism or type of hypothyroidism. Sensorineural hearing loss is common in children with congenital hypothyroidism and should be searched for carefully and systematically to avoid difficulties related to speech and language development.