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Paediatrics
17q12 microdeletion syndrome
  1. Viswanadhula S L V Bhargav,
  2. Mahesh Venkatachari and
  3. Thirunavukkarasu Arun Babu
  1. Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India
  1. Correspondence to Dr Thirunavukkarasu Arun Babu; babuarun.t{at}gmail.com

Abstract

An infant girl presented with multiple blisters followed by peeling of the skin over the entire body for 5 days with a prodrome of fever and cough. The child had dysmorphic facies, growth faltering and developmental delay. The ultrasonogram of the abdomen showed multiple small cysts in both kidneys with increased echogenicity and loss of corticomedullary differentiation. The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabetes workup showed an HbA1c of 5.9% with normal fasting glucose levels suggestive of a possible pre-diabetes. The renal functions were deranged with an estimated GFR of 22 mL/min/1.73 m2. Keeping a possibility of staphylococcal scalded skin syndrome (SSSS), the child was treated successfully with appropriate antibiotics. This case depicts atypical presentation of 17q12 deletion syndrome with a very early onset chronic kidney disease, pre-diabetes and SSSS.

  • Paediatrics
  • Congenital disorders

https://doi.org/10.1136/bcr-2024-262697

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: VSLVB, MV, TAB. The following authors gave final approval of the manuscript: TAB. VSLVB, MV and TAB were involved in the diagnosis and clinical management of the case and conceived this concept. All authors contributed to drafting of the manuscript and approved the final version of the manuscript. TAB shall act as a guarantor of the article.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.