Happy April Fool's Day! Today's case is absolutely ridiculous.
You meet a child with round facies, short stature, short fourth metacarpal bones, obesity, subcutaneous calcifications, and developmental delay. You consult a geneticist who says that he would expect hypocalcemia, but when you test the patient's blood, you find normal calcium, phosphate, and parathyroid hormone levels.
Challenge: At 30 letters, this inherited disease is a contender for one of the longest words in the English language; what is it?
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I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
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3 comments:
Yay good case pseudopseudohypoPTHism
Pseudopseudohypoparathyroidism
How appropriate! I just learned about this disorder this week :)
haha good job! Spell check doesn't recognize this word.
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Sudo II
This is pseudopseudohypoparathyroidism (two pseudos). Pseudohypoparathyroidism (one pseudo) is a group of heterogenous disorders characterized by target organ unresponsiveness to PTH, causing hypocalcemia, hyperphosphatemia, and elevated PTH. One type of pseudohypoPTH is an autosomal dominant disease with the constellation of symptoms described. This is Albright's hereditary osteodystrophy. PseudopseudohypoPTH has this phenotype but normal serum calcium concentrations. In these patients, paternal transmission of the mutant gene causes the phenotype but a normal maternal allele results in normal renal responsiveness to PTH.
Source: UpToDate.
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