A rare cause of neonatal persistent jaundice.

Oliveira GN, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-223306 Description A 22-year-old gravida 2, para 1 (G2P1) woman with immunoglobulin anti-D prophylaxis, insulin-treated gestational diabetes and first-trimester cytomegalovirus (CMV) infection vaginally delivered a 39-week boy weighing 3720 g (90th centile) and with Apgar scores of 8 and 10 at 1 and 5 min. Prenatal ultrasonographic assessment throughout gestation was normal. Nursery stay was uneventful. He was discharged on day 2, with a normal examination, except for the appearance of jaundice, with a transcutaneous bilirubin of 248 μmol/L (cut-off 250 μmol/L), not meeting the criteria for phototherapy. A follow-up clinic on day 4, arranged for bilirubin measurement and CMV testing, surprisingly revealed poor general appearance, lethargy, very icteric skin and a minor weight loss (9% of birth weight). Both liver and splenic edges were palpable. Vital signs were normal. Blood routine showed haemoglobin of 19 g/dL, haematocrit of 58%, white blood cells 11.6x10/L and platelet count 128x10/L. Biochemistry revealed total serum bilirubin of 694 μmol/L (cut-off 350 μmol/L), indirect bilirubin of 681 μmol/L, and a normal glucose, urea, creatinine and coagulation study. He was admitted for intensive phototherapy, and his total serum bilirubin level decreased to 289 μmol/L in 9 hours, but rebound hyperbilirubinaemia followed whenever attempts to discontinue were made. He remained icteric, hypotonic, required enteral tube feeding and had a persistent hyponatraemia treated with oral sodium chloride. On day 9 cranial ultrasound (US) was normal, but abdominal US uncovered enlarged adrenal glands, with a hypoechoic heterogeneous mass, measuring 32×21×17 mm on the right and 33×23×17 mm on the left, suggesting a bilateral adrenal haemorrhage (AH). CMV viruria came negative, and subsequent studies showed increased thyroid-stimulating hormone (TSH) and normal free thyroxine 4 levels, leading to the initiation of levothyroxine treatment on day 14. Transfer to a tertiary paediatric hospital was arranged on day 28. Abdominal Doppler US on day 30 confirmed the bilateral AH (figure 1A). The complete hormone evaluation showed raised adrenocorticotropic hormone (ACTH), prolactin, aldosterone and renin, and low cortisol level, which, together with an elevated TSH, disclosed hypothyroidism secondary to adrenal insufficiency (AI). Under hydrocortisone treatment, started on day 39, hypotonia resolved and feeding improved with an adequate weight gain. Neurological and metabolic evaluations were normal. Thyroid parameters normalised at 3 months and levothyroxine was suspended. At 6 months fludrocortisone was added to control the inappropriately activated renin-angiotensin-aldosterone system. Two-month and 6-month follow-up US revealed an ongoing and significant regression of both adrenal masses in size and echogenicity (figure 1B,C). Presently, at 22 months, he remains asymptomatic but continues on corticosteroid replacement therapy for hormonal control. The most recent US, at 12 months, showed an even smaller bilateral haemorrhage with a maximum diameter of 6 mm. AH is a rare neonatal event, most often unilateral and located on the right side (70%) and infrequently bilateral (5%–10%). 2 Predisposing factors include difficult delivery, maternal diabetes, large for gestational age infants, birth asphyxia or trauma, septicaemia and underlying tumour. 3 The aetiology of our patient’s bilateral AH is unknown. AH clinical manifestations are non-specific and vary according to the degree of haemorrhage and subsequent adrenal cortex compromise. Neonatal jaundice and flank mass are the most common presentations. The main differential diagnosis of AH is the cystic form of neuroblastoma; thus, vanillylmandelic acid urinary levels should be assessed if colour Doppler reveals blood flow over the mass. 3 Doppler US is the diagnostic tool of choice for initial and follow-up evaluation of neonates with suspected AH. 2 3 Nevertheless, the authors consider that inconclusive US findings, progression in lesion size A rare cause of neonatal persistent jaundice Gracinda Nogueira Oliveira, Isabel Dinis, Maria José Noruegas, Alice Mirante Images in...