Pediatric Clinic Case Study

Pediatric Clinic Experience
Pediatria
J.L is a 10-month-old white Caucasian male baby. J.L was born at TMH at 34+2-week gestation via C-section delivery due to breech presentation. At birth he weighed 2.18 kg with APGARs scores of 5 and 9. JL received physiotherapy at TMH NICU after birth due to jaundice, and then TMH refer him to UF hospital. While in UF hospital, J.L was diagnosed with Phelan – McDermind 22q13 deletion syndrome, dysphagia, congenital hypotonia macroglossia, convulsions, anemia of prematurity, and exocrine pancreatic insufficiency. Due to his feeding difficulties, GERD and resulting dysphagia a G-tube was placed and a Nissen fundoplication was performed on 1/19/2017, which J.L tolerated well. He is currently NPO and tolerates eternal diet of Alimentum 24kcal/oz. q 4hr via G-tube by pump/gravity during the day and continuously for 12hrs at night. JP requires Phenobarbital via G-tube daily due to seizures. Also, given his hypotonia, he is a risk of plucking is airway with his tongue and required continuous pulse oximetry monitoring and transport via a car bed instead of the traditional car seat. Due to adrenal insufficiency, JL requires Cortef via G-tub q 8hrs with
Phelan – McDermin syndrome vary widely and involve many parts of the body, as is observed in J.L clinical case. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some individuals with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. Less frequently, people with this condition have seizures like J.L. Therefore, J.L presents the classical manifestations of Phelan – McDermind