A case of neonatal sweet syndrome associated with mevalonate kinase deficiency

Margaret Irwin; Veeraya K Tanawattanacharoen; Amy Turner; Mary Beth F Son; Rebecca C Hale; Craig D Platt; Juan Putra; Birgitta A R Schmidt; Mollie G Wasserman

doi:10.1186/s12969-023-00887-8

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency

Pediatr Rheumatol Online J. 2023 Sep 12;21(1):101. doi: 10.1186/s12969-023-00887-8.

Authors

Margaret Irwin^#¹, Veeraya K Tanawattanacharoen^#², Amy Turner^{2

3}, Mary Beth F Son^{2

4}, Rebecca C Hale^{2

5}, Craig D Platt^{2

5}, Juan Putra⁶, Birgitta A R Schmidt⁶, Mollie G Wasserman^{2

7}

Affiliations

¹ Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Margaret.Irwin@childrens.harvard.edu.
² Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
³ Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
⁴ Division of Rheumatology, Boston Children's Hospital, Boston, MA, USA.
⁵ Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
⁶ Department of Pathology, Boston Children's Hospital, Boston, MA, USA.
⁷ Division of Hospital Medicine, Boston Children's Hospital, Boston, MA, USA.

^# Contributed equally.

Abstract

Background: Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is an immunologic syndrome characterized by widespread neutrophilic infiltration. Histiocytoid Sweet syndrome (H-SS) is a histopathologic variant of SS. While SS most commonly occurs in adults, this case report discusses an infant patient who presented with H-SS.

Case presentation: Through a multidisciplinary approach, this patient was also found to have very early onset inflammatory bowel disease (VEO-IBD) and Mevalonate kinase-associated disease (MKAD). While prior case studies have characterized an association between VEO-IBD and MKAD, there is no literature describing the association of all three diagnoses this case: H-SS, VEO-IBD and MKAD. Initiation of canakinumab in this patient resulted in successful control of the disease.

Conclusions: This case highlights the importance of a multidisciplinary approach to rare diagnoses, and collaboration during cases with significant diagnostic uncertainty.

Keywords: Mevalonate kinase deficiency; Mevalonate kinase-associated diseases; Sweet syndrome; Very early-onset inflammatory bowel disease.

Publication types

Case Reports

MeSH terms

Adult
Humans
Infant, Newborn
Inflammatory Bowel Diseases*
Mevalonate Kinase Deficiency* / complications
Mevalonate Kinase Deficiency* / diagnosis
Sweet Syndrome* / diagnosis
Sweet Syndrome* / drug therapy
Sweet Syndrome* / etiology