BSPED2012 Poster Presentations (1) (66 abstracts)
A case of Camurati-Engelmann disease with endocrine complications due to a missense mutation of the TGFB1 gene
Harshini Katugampola 1 , Jemma Say 1 , Meropi Toumba 2 , Vassos Neocleous 3 , Christos Shammas 3 , Elisavet Efstathiou 4 , Violetta Anastasiadou 4 , Leonidas A Phylactou 3 , Nicos Skordis 5 & Jeremy Allgrove 1
1Department of Paediatric Endocrinology, Barts and the London Children’s Hospital, Barts Health NHS Trust, London, UK; 2Iasis Hospital, Paphos, Cyprus; 3Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 4Paediatric Endocrine Unit, Makarios III Hospital, Nicosia, Cyprus; 5St George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus.
Introduction: Camurati-Engelmann disease (CED) is a rare progressive bone dysplasia with ~200 cases documented worldwide. The hallmark is gross thickening of the diaphysis of long bones, usually presenting in childhood, with bilateral, symmetrical pain in the extremities. Endocrine complications include vitamin D deficiency, osteoporosis, delayed puberty, tall stature, hypogonadotrophic hypogonadism and gonadal dysfunction. The disease has been ascribed to activating mutations in the TGFB1 gene encoding transforming growth factor TGFβ1.
Case: A 14-year-old Cypriot girl was referred with oligomenorrhoea and hyperprolactinaemia. She reported a 5-year history of bilateral leg and arm pain, with associated fatigue. Her father described a history of leg pains from childhood. Her X-rays showed symmetrical increased thickening of the cortical bones of the femurs and humeri with mild cystic changes. An initial diagnosis of polyostotic fibrous dysplasia was made, however symptoms worsened with pamidronate treatment. Examination revealed proximal muscle wasting and weakness. Her bone scan showed symmetrical uptake of tracer in the femurs and humeri leading to a diagnosis of CED. This was confirmed by sequence analysis of the TGFB1 gene, which showed a known heterozygous missense mutation pR218C (an arginine-cysteine amino acid change at codon 218 in the latency-associated peptide domain of TGFβ1) in exon 4. The same mutation was identified in her father. She was commenced on prednisolone. At follow-up her limb pain and weakness had resolved, she had regular menses and her prolactin level had normalised.
Conclusion: This case report illustrates a rare, autosomal dominant, symmetrical bone dysplasia, associated with an activating mutation in the TGFB1 gene. Glucocorticoid therapy can potentially ameliorate symptoms, as well as correcting radiological findings. Endocrine complications, although of unknown mechanism, are important to identify and treat accordingly. Early recognition, genetic diagnosis and counseling, together with psychological support, play a crucial role in the management of these patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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