Case Presentation
A 17-year old boy presents to the pediatric clinic for an annual interim evaluation. He weighs 82.3kg and his height is 1.76m. His body mass index is 26.4, which is above the 85th percentile, in the overweight category. Current complaints include hypertension, scoliosis and vision difficulties. He is otherwise alert with no signs of distress and has no complaints of pain.
He has had progressively deteriorating eyesight since he was born, and was prescribed magnifying glasses. His visual acuity is 20/30 in both eyes. He sees without difficulty during the day but has night blindness. Rod-cone dystrophy was previously confirmed by electroretinography. He has also developed hypertension over the past year. Blood pressure is 148/80 mmHg, 95th percentile for systolic and 43rd percentile for diastolic based on August 2017 American Academy of Pediatrics Clinical Guidelines.
The patient was born with polydactyly; there was a 6thdigit on both feet. These digits were surgically removed in 2012. He is flat footed and wears ankle foot orthoses for increased stability while walking. He had undescended testes, for which bilateral orchiopexy was performed before the age of one. He had obvious developmental delays throughout childhood. He receives two hours of special education alongside his high school education. The patient has a history of hydronephrosis previously, which is not found on renal ultrasonography during this visit. He has had scoliosis in his lumbar region for the past year, which does not cause any numbness, tingling or back pain. Past history reveals enlarged ventricles, macrocephaly on magnetic resonance imaging during childhood in 2010. He has regular follow-ups with his neurosurgeon and there is no history of headaches, nausea or vomiting. A five-generation pedigree, shown in Figure 1 , has been obtained and significant data has been noted.
We recommended our patient to receive genetic testing and prescribed him a tablet of Lisinopril 5 mg per oral once daily. He is referred to Ophthalmology for an annual visit and asked to return after a month. Scoliosis is being carefully monitored for any progression. On follow up, the patient had an improved blood pressure of 122/76 mmHg, in the 66th/80th percentile.