ESPE Abstracts

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same presentation.

Case Report: Our case presented to the emergency department of a tertiary hospital in Saudi Arabia, with two days history of painful recurrent upper limb spasms and perioral tingling sensation, which was not triggered by proceeding infection, medication use or herbal ingestion. Patient had similar episode 2 weeks back, sought medical advice and with normal labs and self-resolution of symptoms, patient was reassured and discharged home. He was not on restricted diet or restricted sun exposure and not known to have any medical illness. Patient has two elder siblings with symptomatic hypocalcemia on calcium supplements, but with no definite diagnosis. He was well, on examination, with subtle dysmorphic features in form of micrognathia and prominent forehead. Height 140 cm (below 3rd centile); weight 35 kg (3rd centile). He had positive chvostek's and trousseau's signs. Initial labs showed: (Adj Ca 1.43 mmol/L, Phosphorus 2.72mmol/L, Albumin 41 g/L, Magnesium 0.75 mmol/L, PTH0.752 pmol/L). He was treated by IV followed by oral Calcium supplements as well as active Vit D formula.

Discussion: His clinical and biochemical picture was going with familial isolated hypoparathyroidism and no apparent clinical features suggestive of a syndrome related hypo-parathyroid apart from subtle dysmorphism. Gene panel identified a FAM 111A gene mutation of Kenney Caffey syndrome as well as in the other symptomatic members of the family. A diagnosis that is extremely rare in this part of the world.

Conclusion: A careful history taking and proper physical examination can guide reaching to a rare diagnosis with the great help of advanced genetic tests.