Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

Peer Reviewe

Monitorage de la pression fontanellaire chez le nouveau-né et le nourrisson. Evaluation d'une nouvelle technique de mesure, détermination des valeurs normales et utilisation clinique.

The experience with 200 measurements of anterior fontanelle pressure with the Rotterdam Teletransducer in newborns and infants is reported. Statistical analysis of 25 comparative measurements between anterior fontanelle pressure and invasive cerebrospinal fluid pressure showed an excellent correlation (rs = 0.95). Measurements were reproducible and the plot quality allowed visualisation of pulse pressure and pressure waves. Normal values of the anterior fontanelle pressure, pulse pressure amplitude and pressure wave maximal amplitude were established in 15 prematures, 27 term newborns and 10 infants. Anterior fontanelle pressure monitoring was performed in 19 term newborns with post-asphyxial encephalopathy, 18 newborns and infants with hydrocephalus, 8 preterm and term newborns with respiratory distress and 19 patients with subdural haematomas, metabolic diseases, meningitis, subarachnoidal haemorrhage, head trauma, post cardiac arrest encephalopathy and abnormal head growth or bulging fontanelle. Abnormal patterns of anterior fontanelle pressure monitoring were found in moderate or severe neonatal post-asphyxial encephalopathy, evolutive hydrocephalus, subdural haematomas, metabolic diseases with hyperammoniemia and other clinical situations. In contrast, anterior fontanelle pressure monitoring yielded normal values in mild post-asphyxial encephalopathy, arrested hydrocephalus, well functioning ventriculo-peritoneal derivation, and in normal infants with rapid head growth or bulging fontanelle. The Rotterdam Teletransducer provides thus accurate and reproducible values of intracranial pressure. Anterior fontanelle pressure monitoring may be of value in many situations in clinical practice

Increased recall rate at screening for congenital hypothyroidism in breast fed infants born to iodine overloaded mothers.

Skin disinfection with povidine-iodine (PVP-I) is widely used in obstetrics. We evaluated the influence of PVP-I in mothers at delivery on the serum thyroid stimulating hormone concentrations of their infants at the time of screening for congenital hypothyroidism. The study covered 4745 infants who were either breast fed (3659, 77%) or bottle fed (1086, 23%); 3086 (65%) of them were born to mothers with no iodine overload (controls) and 1659 (35%) to mothers with iodine overload. Compared with the control group, the breast and bottle fed infants born to mothers with iodide overload had a shift of neonatal thyroid stimulating hormone concentration towards high values. The shift was maximal in the breast fed infants with a 25 to 30 fold increase in the recall rate at screening for congenital hypothyroidism (serum thyroid stimulating hormone greater than 50 mU/l) while in the bottle fed infants, the recall rate was barely modified. In conclusion, the use of PVP-I in mothers at delivery induces a transient impairment of thyroid function in their infants, especially if breast fed. This situation is detrimental to screening for congenital hypothyroidism. Consequently PVP-I is not recommended in obstetrics

Biochemical-diagnosis of a Fatal Case of Gunther Disease in a Newborn With Hydrops-fetalis

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated bradycardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Gunther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described

Withdrawal of iodinated disinfectants at delivery decreases the recall rate at neonatal screening for congenital hypothyroidism.

LetterSCOPUS: le.jinfo:eu-repo/semantics/publishe