Def= Hyperbilirubinaemia. KERNICTERUS=basal ganglia deposition (leads to lethargy/poor feeding/irritability/opisthotonus, then deafness, Athetoid Cerebral Palsy). Free bilirubin (Bf, ie not bound to albumin) is probably the best indicator for bilirubin neurotoxicity, given that brain sampling is not an option; but measurements of Bf are not available in clinical practice either! The bilirubin/albumin (B/A) ratio is considered a surrogate parameter for Bf, but no prospective clinical trials have been published to show whether it is superior to using total serum bilirubin (difficult of course, given low incidence of complications). An RCT in premature infants is underway.
Physiological is because Long chain FAs in breast milk compete with Glucuronyl transferase! Dehydration and poor feeding contribute (jaundice FOLLOWS, does not cause). But can also be seen in bottle fed babies.
Prolonged jaundice defined as 21/7 if well, term according to American Academy of Pediatrics. After that, investigation probably appropriate.
Unconjugated vs Conjugated bilirubin (Split bilirubin test)? Conj bili >20 may indicate significant disease, esp if unconj not high. Low albumin suggests prenatal onset.
G6PD in baby can be precipitated by maternal drugs/infection. Enzyme assay false negative because of high retic count, so test mother for carrier status.
Criglen Najjar = Uridine Di Phos Glucuronyl transferase def. (Dubin Johson/Rotor only present >2 yr)
Suggests hepatitis. Note that Alk phos in normal neonates is often high in isolation – ref range? See BSPGHAN protocol.
Parental reporting of stool/urine colour is unreliable! Stool colour chart available from Children's Liver Disease Foundation.
(Variable penetrance of JAG1 gene, only 70pc have known mutations)
?assoc with trauma, cleft lip, holoprosencephaly, septum pellucidum dysplasia, optic atrophy, nystagmus, blindness
USS followed by operative cholangiogram if dilated, else biopsy. If non-specific (eg giant cell hepatitis) then HIDA scan. Failing that, and if older than 6 weeks, laparotomy.
MRCP (Magnetic Resonance RetroCholangioPancreatography)
Read off phototherapy chart! Do not substract the conjugated fraction. But brain bilirubin not the same as blood, because of differences in blood brain barrier. Vulnerable babies are: near term (ie 36/37 weeks), newly born, sick, dehydrated, haemolysis (eg Coombs positive), dark skinned (jaundice less obvious). But little evidence based.
Values over 500 are considered extreme - from BPSU data about 13% are encephalopathic (opisthotonic, seizures), of which about a quarter will end up with kernicterus (but note co-existing pathology).Archives 2007 PMID 17712180
The normal range of blood glucose is around 1.5–6 mmol/l in the first days of life, depending on the age of the baby, type of feed, assay method used, and possibly the mode of delivery. Reagent strips read low falsely in approx 25% of cases. Up to 14% of healthy term babies may have blood glucose less than 2.6 mmol/l in the first three days of life. Lowest concentrations are more likely on day 1.
There is no reason to routinely measure blood glucose in appropriately grown term babies who are otherwise well. "Jitteriness" is a mostly benign finding, if it persists during sucking, hypocalcaemia is actually the more frequent diagnosis.
Galactosaemia no longer done as part of day 5 Guthrie test.
Neonatal CF Screening - if IRT>60 X2, then offered genotype test.
Two thirds resolve with 3 weeks of conservative measures: exposure, salt, alcohol wipes with each change. After that, silver nitrate can be used: important to protect skin with vaseline and allow time for application to dry. Can be done up to 3 times. Else surgical excision. Differential diagnosis is polyp, ie urachal remnant, tends to be shiny and discharge urine, stool or mucus: do USS to look for deep connection. Needs surgical excision.
Snuffly but patent cf choanal atresia. ?syphilis. Saline not steroids - nasal steroid drops are excessively potent.
Abnormal head shape present from birth is much more likely to indicate true craniosynostosis. Classic features of positional plagiocephaly are:
This picture is assumed to be due to deformational forces on a relatively unmoving and pliant skull. When viewed from above, the outline of the cranial vault is a parallelogram. These specific features help differentiate positional plagiocephaly from the more rare lambdoid synostosis, in which the fused suture causes compensatory overgrowth of the remaining patent sutures. This leads to:
Skull x rays can be difficult to interpret, esp where partial absence of sutures is reported. Specialist referral with CT may be needed to confirm patency of sutures and skull base.
Little evidence that helmets help. In addition, to be effective they have to be worn for at least 23 h a day which is associated with contact dermatitis, pressure sores and skin irritation. Infants in helmets may suffer social, and potentially psychological, stigma. Helmets are at present not routinely funded on the UK National Health Service, so there are parental cost implications. Boere-Boonekamp and Hutchinson found over 2-year follow-up that with time most cases of positional plagiocephaly resolve spontaneously. Currently, none of the four designated craniofacial units in the UK feel there is sufficient evidence to support the use of helmet therapy. The consensus is that the mainstay of management should remain early recognition and repositioning strategies, with physiotherapy for those cases associated with torticollis.
This work
is licensed under a Creative
Commons Attribution-Noncommercial-Share Alike 2.5 UK: Scotland License.