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.