Aim: To highlight the importance of tangential thinking in unusual clinical presentations, and tracking of family history with emergence of index case.
Methods: A case review of three siblings presenting with varied symptoms and diagnosis to the different speciality clinic and noted to have Hypocalcaemia.
Results: 14 year old boy, diagnosed at age of 3 years with Duchennes muscular dystrophy (DMD), confirmed with identification of a mutation in the DMD gene (deletion of exons 46, 37 and 48). He presented with persistent hypocalcaemia and low vitamin D, normal Alkaline Phosphatase (ALP) and marginally raised Parathormone (PTH). Medicinal compliance and dysfunctional family dynamics were an issue and were thought to be major factors in persistent hypocalcaemia. 7-years old girl presented for excessive weight gain, clumsiness and frequent falls. She had a round face, significant brachydactyly of hands and feet and increased lumbar lordosis. She had marginally low calcium, normal ALP. Initial PTH was not assayed in view of sampling error. Subsequent PTH was raised. Index patient is a 12-years old boy presenting with acute hypocalcaemic tetany with 6 month history of pins and needles in hands and lips, recurrent spasm of hand and jaw. He was earlier treated for epilepsy. He had a round face with normal hands and feet. He had normal ALP, raised PTH, low vitamin D. In all 3 patients, Vitamin D levels and calcium levels normalised with supplementation, however, PTH still remained high.
Conclusion: Pseudohypoparathyroidism (PHP) is a condition with PTH resistance, due to defective PTH receptor arising from defective G protein (α subunit). Rare causes should be considered especially with persistent hypocalcaemia. Complete biochemical evaluation is required in the absence of typical phenotypic features of PHP. Family history is important and needs to be carefully considered in the context of clinical presentation.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology