RESUMEN
We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility. Results were returned within ~37 h from blood sample draws and were diagnostic in 3 out of 5 patients. Positive findings were a homozygous pathogenic variant in POMT1 gene causing muscular dystrophydystroglycanopathy, a mosaic tetrasomy of the short arm of chromosome 12 (12p13.33p11.1) causing Pallister-Killian syndrome, and compound heterozygous pathogenic variants in the LIPA gene causing lysosomal acid lipase deficiency and Wolman disease. The rWGS analysis provided fast and precise diagnostic findings in those 3 patients and also aided in devising better management plans for them in the intensive care setting. For example, the 3-month-old infant with pathogenic variants in the LIPA gene is now a candidate for an FDA-approved, potentially lifesaving enzyme replacement therapy (sebelipase alfa). Our case series emphasize the feasibility and utility of rWGS in pediatric intensive care setting, in a diverse population that has long been underserved in genomic services. Significant investments in local healthcare infrastructure are needed, globally, for more equitable access of genomic medicine among vulnerable patients.
Asunto(s)
Enfermedad Crítica , Secuenciación Completa del Genoma , Trastornos de los Cromosomas , Cromosomas Humanos Par 12 , Enfermedad Crítica/terapia , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Secuenciación Completa del Genoma/métodos , Enfermedad de WolmanRESUMEN
RESULTS: Out of 34 patients who underwent gastrostomy tube insertion, 30 patients had their long tube replaced by a button gastrostomy. Majority were males (N = 18, 60%). Prolonged nasogastric tube feeding was the main indication of referral (N = 17, 56%) followed by feed intolerance (N = 6, 17%) and gastroesophageal reflux disease (N = 5, 16%). The main underlying diseases at referral were neurological impairment (N = 19, 63%) and metabolic disorders (N = 4, 13%). There was no significant difference between patients with neurological disorders and other diseases in terms of gender, nationality, or age. Laparotomy with gastrostomy is the main approach used (N = 18, 60%). No reported complications of button tubes in 50% of the patients (N = 15). CONCLUSIONS: Prolonged nasogastric tube feeding is the main indication of referral for gastrostomy tube insertion. Neurological disorders are the main diagnosis for the cases operated upon. Laparotomy with gastrostomy is the procedure of choice at our center. Majority of patients had no reported complications of button tube replacement. These children are likely to benefit from the button tube with fewer complications.