Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Key Result

Whole genome sequencing revealed the correct diagnosis of Xp21.3p21.1 CGDS in a 12-month-old child with elevated creatinine kinase initially misdiagnosed with adrenal insufficiency.

Key Points

• To determine the underlying genetic causes in a child presenting with elevated creatinine kinase and elevated triglycerides.
• Utilized whole genome sequencing to analyze genetic data.
• Incorporated clinical findings such as elevated creatinine kinase and triglycerides for diagnoses.
• Contrasted initial misdiagnosis with subsequent findings.
• Detected diagnosis of Xp21.3p21.1 CGDS via whole genome sequencing.
• Highlighted misdiagnosis of adrenal insufficiency compared to genetic findings.
• Demonstrated potential for genomic analysis to guide clinical diagnosis effectively.