4th March 2024

A 21-year-old male presents to the acute medical unit with two days history of progressively worsening

A 21-year-old male presents to the acute medical unit with two days history of progressively worsening altered sensation in his hands and legs. He describes this as a “pins and needles” sensation along his hands, feet and mouth. He did not notice any accompanying limb weakness or recall having seizures. He was known to have a cleft lip and palate as a child, but this was repaired. As a child, he was also known to have a murmur, but this did not result in any clinical concern. The patient also had repeated chest and sinus infections as a child, requiring multiple antibiotics to manage this.

On examination today, spasms in his arms were noted when a BP cuff was inflated. In addition, a facial spasm was also elicited when tapping on his facial nerve. A soft systolic murmur, loudest over his left sternal edge, was heard. He was also noted to have a small chin, down-slanting palpebral fissures, and low-set ears with a bulbous nose tip. Blood tests were performed, and a low PTH level was noted, along with raised phosphate levels.

What is the likely underlying diagnosis?

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