Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.
Alireza Eshghi, Marzieh Asgharyan Fargi, Masoume Pandi et al.
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Case in brief
An 8-month-old female infant presented with multisystemic complications, including congenital heart defects, limb anomalies, macrocephaly, and recurrent pulmonary infections. Genetic analysis revealed a 1.8 Mb deletion on chromosome 19p13.3 affecting 55 genes. Notably, the patient also experienced gastrointestinal issues such as vomiting and diarrhea, which are uncommon in this syndrome. The case highlights the diverse manifestations of this genetic disorder.
What made this case unusual
The presence of gastrointestinal complications, including vomiting and diarrhea, is rarely reported in 19p13.3 microdeletion syndrome, making this case noteworthy.
Diagnostic / clinical pearl
Clinicians should consider the possibility of gastrointestinal manifestations in patients with 19p13.3 microdeletion syndrome, as this expands the known clinical spectrum of the condition.
Why it matters
Understanding the full range of symptoms associated with 19p13.3 microdeletion syndrome can aid in early diagnosis and management of affected patients.