CASE A 4-week-old boy presented with a 24-h history of decreased energy, oral intake and urinary output, 3 days of nonbilious emesis and pale stools. Born term (weight 3655 g, pregnancy and delivery uneventful), a hypoglycaemic episode at a few hours of life, was corrected with intravenous glucose. Phototherapy was required a few days later for jaundice. Newborn screening and family history were noncontributory. Investigations on admission revealed a Klebsiella pneumoniae urinary tract infection, blood and CSF glucose of 0.4 and 0.2 mmol/L, respectively, and a total and direct bilirubin of 142.8 and 68.9 lmol/L, respectively. He received intravenous dextrose and was transferred to our centre. Physical examination revealed a pale, jaundiced boy (weight 3.590 kg, 3rd–15th percentile; length 51 cm, 3rd percentile; head circumference 37 cm, 15th–50th percentile), with normal vital signs, micropenis and undescended testes. Initial investigations (on 10% IV dextrose and formula feeds) confirmed direct hyperbilirubinaemia but were otherwise unremarkable. Abdominal ultrasound was normal, hepatobiliary scintigraphy showed a patent biliary tree, but delayed excretion time. Further investigations, including a cranial MRI (Fig. 1), revealed the diagnosis.

Acta PaediatricaVolume 102, Issue 11 p. 1104-1105 Quest for the Diagnosis A 4-week-old boy with emesis and pale stools (Discussion and Diagnosis) E Kelland, E Kelland Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, CanadaSearch for more papers by this authorC Clarson, C Clarson Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada Lawson Health Research Institute, London Health Sciences Centre, London, ON, CanadaSearch for more papers by this authorDE Bock, Corresponding Author DE Bock [email protected] Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada Lawson Health Research Institute, London Health Sciences Centre, London, ON, Canada Correspondence Dirk E. Bock, Assistant Professor of Pediatrics, Children's Hospital, London Health Science Centre, University of Western Ontario, 800 Commissioners Road East, London, ON, N6A 5W9, Canada. Tel: +1 519 685 8500, ext. 56075 | Fax: +1 519 685 8156 | Email: [email protected]Search for more papers by this author E Kelland, E Kelland Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, CanadaSearch for more papers by this authorC Clarson, C Clarson Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada Lawson Health Research Institute, London Health Sciences Centre, London, ON, CanadaSearch for more papers by this authorDE Bock, Corresponding Author DE Bock [email protected] Department of Pediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada Lawson Health Research Institute, London Health Sciences Centre, London, ON, Canada Correspondence Dirk E. Bock, Assistant Professor of Pediatrics, Children's Hospital, London Health Science Centre, University of Western Ontario, 800 Commissioners Road East, London, ON, N6A 5W9, Canada. Tel: +1 519 685 8500, ext. 56075 | Fax: +1 519 685 8156 | Email: [email protected]Search for more papers by this author First published: 03 October 2013 https://doi.org/10.1111/apa.12381Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Alatzoglou KS, Dattani MT. Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev 2009; 85: 705–12. 2Castinett F, Reynaud R, Saveanu A, Quentien MH, Albarel F, Barlier A, et al. Clinical and genetic aspects of combined pituitary hormone deficiencies. Ann Endocrinol (Paris) 2008; 69: 7–17. 3Ascoli P, Cavagnini F. Hypopituitarism. Pituitary 2006; 9: 335–42. 4Cooper MS, Stewart PM. Diagnosis and treatment of ACTH deficiency. Rev Endocr Metab Disord 2005; 6: 47–54. 5Binder G, Martin DD, Kanther I, Schwarze CP, Ranke MB. The course of neonatal cholestasis in congenital combined pituitary hormone deficiency. J Pediatr Endocrinol Metab 2007; 20: 695–701. 6Mehta A, Dattani MT. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract Res Clin Endocrinol Metab 2008; 22: 191–206. 7Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, et al. Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency. Pituitary 2012; 15: 243–50. 8Turcu AF, Erickson BJ, Lin E, Guadalix S, Schwarz K, Scheithauer BW, et al. Pituitary stalk lesions: The mayo clinic experience. J Clin Endocrinol Metab 2013; 98: 1812–18. 9Van Aken MO, Lamberts SWJ. Diagnosis and treatment of hypopituitarism: an update. Pituitary 2005; 8: 183–91. 10Richmond EJ, Rogol AD. Growth hormone deficiency in children. Pituitary 2008; 11: 115–20. Volume102, Issue11November 2013Pages 1104-1105 ReferencesRelatedInformation