Management Difficulties in a Newborn with Xp21 Contiguous Gene Deletion Syndrome
Background
Xp21 contiguous gene deletion syndrome is a rare X-linked disorder characterized by interstitial deletions affecting several genes, leading to a spectrum of clinical manifestations. The clinical features depend on the deletion size and the specific genes involved.
Data Highlights
No numerical data or trial data presented in the article.
Key Findings
The patient had a 4.5 Mb hemizygous deletion at Xp21.3-p21.2 involving IL1RAPL1, NR0B1, GK, and parts of DMD.
Primary adrenal insufficiency with hyponatremia and hyperkalemia developed by the second week of life.
Visual impairment was noted early, with symptoms including nystagmus and pale optic discs.
By 15 months, the child exhibited global developmental delay, particularly in gross motor and language skills.
Clinical Implications
Early molecular diagnosis in patients with Xp21 contiguous gene deletion syndrome is essential for initiating appropriate hormone replacement and metabolic surveillance.
Conclusion
This case illustrates the diagnostic challenges associated with Xp21 contiguous gene deletion syndrome.
by Ignacy Frulenko, Iwona Ostrowska, Michał Patalan, Aida Bertoli-Avella, Nayla Y. León, Andreia Pinto, Peter Bauer, Alicja Leśniak, Daria Katuszonek, Marta Glińska, Monika Modrzejewska, Robert Śmigiel, Maria Giżewska
