Objective:

To report a case of a male child with Xp21 contiguous gene deletion syndrome and illustrate the diagnostic challenges and clinical complexities associated with this condition.

Approach:

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Key Findings:

• The patient developed salt-wasting primary adrenal insufficiency with hyponatremia and hyperkalemia.
• Significant glyceroluria and severe serum hypertriglyceridemia were noted, consistent with glycerol kinase deficiency.
• The child exhibited global developmental delay by 15 months, particularly in gross motor and language skills.

Interpretation:

The case highlights the importance of early molecular diagnosis in managing Xp21 contiguous gene deletion syndrome, which can facilitate timely interventions.

Limitations:

• The study is based on a single case, which may limit the generalizability of the findings.
• The impact of multi-gene deletions on clinical outcomes remains incompletely understood.

Conclusion:

Early diagnosis and management are crucial for addressing the complex clinical manifestations of Xp21 contiguous gene deletion syndrome.