More on the Beckwith-Wiedemann syndrome.
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Humans↗
Biomedical subjects
E Eggermont
Publications and source records attributed to E Eggermont.
Intussusception of the vermiform appendix: a preoperative diagnosis in an adolescent girl.
Intussusception of the vermiform appendix (IVA) in a 14-year-old girl is reported. The diagnosis was made preoperatively, which is rare: only five other cases have been reported. IVA can present with variable symptoms. This patient presented with episodes of recurrent severe paroxysmal pain and vomiting, each episode being separated by several uneventful weeks. The diagnosis of IVA could be made at the fourth attack of colic by the radiological visualization of a "spiral shell" filling defect at the bottom of the cecum that was reducible by intravenous injection of a spasmolytic. Laparotomy with appendectomy rescued the patient from these distressing episodes. Although IVA is an uncommon condition, one should be aware of its existence and include it in the differential diagnosis of acute abdominal syndromes. When confronted with a clinical picture of intussusception in older children or adolescents, one should especially remember this entity as a differential diagnosis with other causes of intussusception, especially tumors.
Adolescent↗
Nutritive and non-nutritive sucking in preterm infants.
Nutritive and non-nutritive sucking was studied in 9 preterm infants with postmenstrual ages ranging from 28 to 33 weeks and postnatal ages ranging from 0 to 8 weeks. During nutritive sucking, sucking bursts were longer than sucking pauses. During non-nutritive sucking the opposite was seen. The sucking rate was lower during nutritive sucking. During nutritive sucking the respiratory rate was higher during the pauses than during the bursts. During non-nutritive sucking the respiratory rate was higher during sucking. It is concluded that non-nutritive sucking cannot serve as a model for studying feeding mechanisms in the preterm infant.
Electromyography↗
Variability of outcome in Joubert syndrome.
Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.
Cerebellum↗
Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).
The Zellweger or cerebro-hepato-renal syndrome (CHRS) is a congenital disorder characterized by cerebral dysfunction, craniofacial dysmorphic features, transient cholestasis and renal cysts. Patients fail to thrive, and usually die in their first year of life. In some cases, a definite diagnosis on purely clinical signs might not be possible. Several biochemical abnormalities have been observed in these patients and some of them have been tested as diagnostic markers. The aim of this study is to evaluate bile acid metabolites as biochemical markers of the CHRS. From a study of 20 CHRS patients, we conclude that screening for the presence of coprostanic acids and the C-29 dicarboxylic bile acid in serum or urine is for detection of CHRS and confirmation of the diagnosis.
Bile Acids and Salts↗
The role of the small intestine in cystic fibrosis patients.
A survey is given of the morphological and biochemical lesions of the small intestine that can be found in cystic fibrosis patients. The available data on the structure and function of the small intestine in CF patients favour the hypothesis that the small intestine itself might contribute to the malabsorption of nutrients in this disease. The most pronounced lesions, i.e. meconium ileus and absent active transport of bile salts are found in the ileum. It might be remembered that the ileum is also the site of intensive exchange of chloride and bicarbonate, a function that is heavily disturbed in the pancreas of CF patients. For this reason, further studies on the ileal function in cystic fibrosis are warranted.
Bicarbonates↗
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?
A 5-month-old male is reported with clinical and radiological findings identical to those present in the Schinzel acrocallosal syndrome. The similarity with the Greig syndrome is discussed and the question is raised whether both syndromes are variant examples of the same autosomal dominant condition.
Abnormalities, Multiple↗
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.
Child↗
Bloom's syndrome. Possible pitfalls in clinical diagnosis.
We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice. Measurement of the frequency of sister chromatid exchanges is essential in patients with growth retardation of intrauterine origin.
Adolescent↗
Parental contact in the neonatal special care unit.
Parental telephone calls and visits are analysed during the entire stay of the premature infant in the neonatal special care unit in Leuven, Belgium. It is concluded that the summation of parental visits and telephone calls is a better measure of parental contact than parental visits or parental telephone calls separately. This measure is significantly related to parental profession. It is not significantly related to the distance between the family home and the hospital, to the presence of a car or a telephone at home or to the presence of siblings. Parental contacts remain stable during the entire stay of the baby in the neonatal special care unit.
Female↗
Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas.
The antenatal ultrasound diagnosis of fetal abnormalities in 150 fetuses over the period 1975-early 1983 is reported. The perinatal outcome of the whole series has been assessed. The most frequently encountered malformations involved the central nervous system (34.9%), the nephro-urological system (17.2%), and the gastro-intestinal tract, abdominal wall and diaphragm (17.1%). Neonatal findings in incompletely explained polyhydramnions, fetal hydrops, and severe intrauterine growth retardation are also commented upon. Numerical chromosomal abnormalities were present in at least 13.3% of the malformed fetuses. The accuracy of the antenatal ultrasound diagnosis in a defined subgroup with congenital malformations resulting in perinatal death was analysed: in 76.9% one (or more) malformations were correctly diagnosed or relevant information was obtained. Comment is made on the obstetrical management and its inherent dilemmas, with appropriate references to the literature. Antenatal ultrasound, together with complementary techniques, can reach an acceptable level of accuracy, but associated anomalies may be missed. Groups for which there are different prognoses can be assessed, and serve as a guideline in perinatal management. Ethical attitudes, psychological aspects, and the possible promises of fetal treatment are briefly discussed.
Central Nervous System↗
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
Cerebrospinal fluid aminoacid analysis in a girl with severe psychomotor retardation, hypotonia, hyperreflexia and growth acceleration showed highly increased levels of free gamma-aminobutyric acid (4.8 mumol/l; range in twenty controls 0.04-0.12, median 0.08), homocarnosine, a dipeptide of gamma-aminobutyric acid and histidine (23.4 mumol/l; control range 4.0-8.7, median 7.6) and of beta-alanine, an alternative substrate for gamma-aminobutyric acid-transaminase (0.48 mumol/l; control range 0.02-0.06, median 0.05). Liver gamma-aminobutyric acid-transaminase activity was deficient (0.07 mumol/mg protein h; range in ten controls 0.31-0.69, median 0.38). Fasting plasma growth hormone levels were increased (7.9-38.4 ng/ml; nl less than 5). Brain evoked responses were suggestive of leukodystrophy. A brother of this patient, showing a similar clinical picture, had died at one year. Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency.
4-Aminobutyrate Transaminase↗
Serum thyroglobulin levels in preterm neonates.
Serum thyroglobulin (Tg) levels were determined in preterm neonates. Very high values were found at birth. A significant negative correlation was observed between Tg levels and gestational age. A longitudinal study indicates that a very sharp decrease in Tg levels occurred after birth. Three weeks after birth, the values were close to the values of full-term neonates. These high hTg values could result either from an increased turnover of hTg or from a lower clearance rate of this iodoprotein.
Gestational Age↗
Early clinical signs in Coffin-Lowry syndrome.
Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel beyond the age of two years may be another associated finding. Retarded bone age, coarsity of the face and skeletal malformations considered characteristic in adult patients were not present. Early recognition of Coffin-Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations.
Abnormalities, Multiple↗
The thyroid-system function in preterm infants of postmenstrual ages of 31 weeks or less: evidence for a "transient lazy thyroid system".
A prospective study was conducted in order to evaluate thyroid function in 20 healthy and 18 sick preterm infants with postmenstrual ages of 31 weeks or less. The clinical condition of both groups was compared using a "Neonatal Special Care Evolution Score". The effect of thyroid hormone treatment, given from D10 on to the sick infants, was also studied. TSH, thyroid hormone levels (TG, T4, T3, rT3, FT4 and FT3) and TBG were measured by radioimmunoassays at D0, D10, D20, D30 and D40. Healthy preterm infants on D0 have a median TSH level of 22 microU/ml and a high TG level of 200 ng/ml; thereafter, median serum levels decrease to 6 microU/ml and 35 ng/ml respectively. During the same period, median serum T4 is maintained at a low level of about 6-8 micrograms/dl, median serum T3 gradually increases from 80 ng/dl on D0 to 150 ng/dl on D40, and median serum rT3 decreases beyond D10 from a plateau of 200 ng/dl to about 100 ng/dl. In the sick preterm infants before treatment, serum TSH is as in the control group but serum T4, T3 and rT3 on D10 are well below the control values (P = 0.005). In all conditions, there is a significant correlation between serum T4 and FT4, and between serum T3 and FT3. Thyroxine, given to the sick preterm infants from D10 on, brings median serum T4 values closely to the ones of the control group whereas serum levels of TSH and TG are unaffected and similar to those of the healthy preterm infants. Furthermore, thyroxine brings serum rT3 within the range of the control group but leaves median serum T3 at a low level of about 50 ng/dl. On T3 treatment, serum T3 normalizes but rT3 and particularly T4 tend to decline further. In the conditions of this study a significant difference in TBG level is not proven. Although an untreated sick group was not enrolled in the study, thyroid hormone treatment brought the "Neonatal Special Care Evolution Score" of the treated sick infants closer to that of the healthy preterm infants. In the sick preterm infant with failure to thrive on D10, there is an impaired thyroid discharge of T4 in spite of serum TSH values not different from those of the control group.(ABSTRACT TRUNCATED AT 400 WORDS)
Age Factors↗
Neonatal evaluation by nurses in a neonatal special care unit.
The value of a nursing questionnaire in the evaluation of preterm infants during their stay in the neonatal special care unit was studied. The questions were related to feeding, crying, sleeping, motoric process, tremor and stress, state control, position, sensory capabilities and parental attitudes. In general, questions were answered in 95%, but the questions related to sensory capabilities were only answered in 30%. Evaluation by the nurses of feeding, crying, motoric process, tremor and parental attitudes correlated well with observational data and with the results of a neurological examination. It was concluded that evaluation by the nurses using a questionnaire can be of value in neonatal units, especially when detailed observations or a systematic neurological examination are not feasible.
Behavior↗
Thrombosis of the right umbilical artery, presumably related to the shortness of the umbilical cord: an unusual cause of fetal distress.
This case report concerns a late pregnancy complication, clinically apparent as severe variable decelerations in the first stage of labor. Emergency cesarean section delivered a mildly asphyxiated full-term newborn infant. Examination of the umbilical cord revealed a thrombus of the right umbilical artery, near the fetal side, confirmed by histological examination. The total length of the umbilical cord, only 30 cm, was below the limit necessary for uncomplicated delivery of the fetus near term. Transient stretching during fetal descent is thought to be responsible for constriction of the umbilical arteries, blood flow sludging and thrombosis. Although only a few cases have been reported, thrombosis of the umbilical vessels has to be considered whenever the fetal heart rate pattern shows unexplained variable decelerations.
Adult↗
Diagram for easy volume setting of an infant ventilator.
A pressure-volume diagram with isocompliance lines allows quick, accurate volume setting of the piston-driven infant ventilator Bourns LS. A line parallel with the machine compliance line and an intercept on the ordinate equal to the tidal volume, serves as a guideline for initial volume setting and subsequent adaptation according to the patient's lung compliance. This diagram is particularly useful when the lung compliance is low; changes consistently during controlled ventilation.
Bronchopulmonary Dysplasia↗