Download PDF
J Pediatr Genet 2019; 08(01): 027-032
DOI: 10.1055/s-0038-1669445
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Failure to Thrive: An Expanded Differential Diagnosis

Alexandra Lazzara
1   Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States
2   Department of Pediatrics, Johns Hopkins Children's Center, Baltimore, Maryland, United States
,
Carrie Daymont
1   Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States
,
Roger Ladda
1   Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States
,
Jordan Lull
1   Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States
,
Can Ficicioglu
3   Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
Jennifer L. Cohen
3   Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
Justen Aprile
1   Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States
› Author Affiliations
Further Information

Publication History

09 June 2018

23 July 2018

Publication Date:
31 August 2018 (online)

    Permissions and Reprints

Abstract

The patient is a term 6-month-old male, who presented with failure to thrive since birth. History was remarkable for suspected milk and soy protein allergy, gastroesophageal reflux, constipation, and abdominal distension that was present since birth. He was losing weight despite oral intake of over 100 kcal/kg per day. Prior workup including laboratory studies, abdominal X-ray, upper gastrointestinal series with fluoroscopy, barium enema, and abdominal ultrasound were all within normal limits. The patient's history, diagnostic evaluation, and final diagnosis are revealed. This case highlights a rare condition presenting as failure to thrive, a common problem with a wide differential diagnosis.

Keywords

Wolman's disease - failure to thrive
 

  • References

  • 1 Olsen EM. Failure to thrive: still a problem of definition. Clin Pediatr (Phila) 2006; 45 (01) 1-6
    CrossrefPubMedGoogle Scholar
  • 2 Mei Z, Grummer-Strawn LM, Thompson D, Dietz WH. Shifts in percentiles of growth during early childhood: analysis of longitudinal data from the California Child Health and Development Study. Pediatrics 2004; 113 (06) e617-e627
    CrossrefPubMedGoogle Scholar
  • 3 Ramsay M, Gisel EG, Boutry M. Non-organic failure to thrive: growth failure secondary to feeding-skills disorder. Dev Med Child Neurol 1993; 35 (04) 285-297
    PubMedGoogle Scholar
  • 4 Reilly SM, Skuse DH, Wolke D, Stevenson J. Oral-motor dysfunction in children who fail to thrive: organic or non-organic?. Dev Med Child Neurol 1999; 41 (02) 115-122
    CrossrefPubMedGoogle Scholar
  • 5 Zenel Jr JA. Failure to thrive: a general pediatrician's perspective. Pediatr Rev 1997; 18 (11) 371-378
    CrossrefPubMedGoogle Scholar
  • 6 Berwick DM, Levy JC, Kleinerman R. Failure to thrive: diagnostic yield of hospitalisation. Arch Dis Child 1982; 57 (05) 347-351
    CrossrefPubMedGoogle Scholar
  • 7 Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). Available at: https://omim.org/ . Accessed December 7, 2017
    PubMed
  • 8 Sills RH. Failure to thrive. The role of clinical and laboratory evaluation. Am J Dis Child 1978; 132 (10) 967-969
    CrossrefPubMedGoogle Scholar
  • 9 Nurminen S, Kivelä L, Taavela J. , et al. Factors associated with growth disturbance at celiac disease diagnosis in children: a retrospective cohort study. BMC Gastroenterol 2015; 15: 125
    CrossrefPubMedGoogle Scholar
  • 10 Jaffe AC. Failure to thrive: current clinical concepts. Pediatr Rev 2011; 32 (03) 100-107 , quiz 108
    CrossrefPubMedGoogle Scholar
  • 11 Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with calcified adrenals. AMA J Dis Child 1956; 91 (03) 282-286
    PubMedGoogle Scholar
  • 12 Assmann G, Fredrickson DS, Sloan HR, Fales HM, Highet RJ. Accumulation of oxygenated steryl esters in Wolman's disease. J Lipid Res 1975; 16 (01) 28-38
    CrossrefPubMedGoogle Scholar
  • 13 Fitoussi G, Nègre-Salvayre A, Pieraggi MT, Salvayre R. New pathogenetic hypothesis for Wolman disease: possible role of oxidized low-density lipoproteins in adrenal necrosis and calcification. Biochem J 1994; 301 (Pt 1): 267-273
    CrossrefPubMedGoogle Scholar
  • 14 Aguisanda F, Thorne N, Zheng W. Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genomics Transl Med 2017; 11: 1-18
    PubMedGoogle Scholar
  • 15 Reiner Ž, Guardamagna O, Nair D. , et al. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235 (01) 21-30
    CrossrefPubMedGoogle Scholar
  • 16 Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58 (06) 1230-1243
    CrossrefPubMedGoogle Scholar
  • 17 Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW. , et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. Chap. 142. New York: McGraw Hill Education; 2018
    Google Scholar
  • 18 Goldstein JL, Brown MS. Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis. Circulation 1987; 76 (03) 504-507
    CrossrefPubMedGoogle Scholar
  • 19 Burton BK, Balwani M, Feillet F. , et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015; 373 (11) 1010-1020
    CrossrefPubMedGoogle Scholar
  • 20 Jones SA, Rojas-Caro S, Quinn AG. , et al. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis 2017; 12 (01) 25
    CrossrefPubMedGoogle Scholar
  • 21 The WHO Child Growth Standards. Available at: http://www.who.int/childgrowth/standards/en/ ; Accessed January 2, 2018
    PubMed
  • 22 Kahramaner Z, Erdemir A, Arik B, Bilgili G, Tekin M, Genc Y. Reference ranges of liver and spleen dimensions in term infants: sonographic measurements. J Med Ultrason (2001) 2015; 42 (01) 77-81
    CrossrefPubMedGoogle Scholar
  • 23 Ficicioglu C, An Haack K. Failure to thrive: when to suspect inborn errors of metabolism. Pediatrics 2009; 124 (03) 972-979
    CrossrefPubMedGoogle Scholar