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17q12 microdeletion syndrome.

Viswanadhula S L V Bhargav1, Mahesh Venkatachari1, Thirunavukkarasu Arun Babu2

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|November 7, 2024
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Summary

This case highlights an infant with 17q12 deletion syndrome presenting atypically with early-onset chronic kidney disease, pre-diabetes, and staphylococcal scalded skin syndrome (SSSS). Early diagnosis and treatment are crucial for managing this rare genetic disorder.

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Congenital disordersPaediatrics

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Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • 17q12 deletion syndrome is a rare genetic disorder associated with various clinical manifestations.
  • Early identification of this syndrome is crucial for timely intervention and management.

Observation:

  • An infant presented with widespread skin blistering and peeling, fever, cough, dysmorphic features, growth faltering, and developmental delay.
  • Abdominal ultrasound revealed bilateral renal cysts with increased echogenicity and loss of corticomedullary differentiation.
  • Whole exome sequencing identified a 1.4 Mb deletion on chromosome 17q12, encompassing the HNF1B gene.

Findings:

  • The patient exhibited pre-diabetes (HbA1c 5.9%) and significantly impaired renal function (eGFR 22 mL/min/1.73 m²).
  • The infant was successfully treated for suspected staphylococcal scalded skin syndrome (SSSS) with antibiotics.
  • This case illustrates an unusual presentation of 17q12 deletion syndrome with concurrent chronic kidney disease and SSSS in infancy.

Implications:

  • This case underscores the importance of considering genetic syndromes in infants with complex multisystem presentations.
  • It emphasizes the potential for early-onset renal disease and metabolic disturbances in 17q12 deletion syndrome.
  • Recognizing atypical presentations, such as the co-occurrence of SSSS, is vital for accurate diagnosis and management of 17q12 deletion syndrome.