Pediatric SEQs
A 12‐year‐old boy presented with obesity. He had been
floppy and a poor feeder as an infant with recurrent fits until the age of
seven years. On examination, he had developmental delay and special
educational needs. His height was on the 50th centile and weight well above the
97th centile.
The following measurements were obtained on a basal blood
sample:
Calcium 1.95mmol/L [7.82 mg/dL]
Albumin 41 gL [4.1 g/dL]
Phosphate 1.90mmol/L [5.9 mg/dL]
Creatinine 78μmol/L [0.9 mg/dL]
Alkaline phosphatise 202 IU/L (reference range 100–400)
PTH 14.5pmolL (reference range 0.9–5.5) [138 pg/ml
(reference range 10–65)] 25‐OH‐cholecalciferol 16.1 ng/ml (reference range
8–50)
Free T4 11pmol/L (reference range 9.8–23.1) [0.88 ng/dL
(reference range 0.8–2.4)]
TSH 5.7mU/L (reference range 0.35–5.5)
Questions and Answers
1. What
do these results demonstrate?
2. What
is the most likely diagnosis?
3. What
additional investigations may clarify the diagnosis?
1.hypocalcemia with hyperphosphatemia, pth is also high
ReplyDelete2.pseudohypoparthyriodisim or secondary hyperpathyriodisim (unlikely as vitamin d is normal and renal functions are also normal)
3.urinary cAMP,