Visual Vignette EP VISUAL VIGNETTE

Transcription

1 ENDOCRINE PRACTICE Rapid Electronic Article in Press Rapid Electronic Articles in Press are preprinted manuscripts that have been reviewed and accepted for publication, but have yet to be edited, typeset and finalized. This version of the manuscript will be replaced with the final, published version after it has been published in the print edition of the journal. The final, published version may differ from this proof. DOI: /EP AACE. Visual Vignette EP VISUAL VIGNETTE Geethu Antony 1 MD, Hirenkumar Kamleshkumar 2 MD, Shivendra Verma 1 MD; Nitin Kapoor 1 DM; Hesarghatta S Asha 1 DNB; Dincy Peter 3 MD; Thomas V Paul 3 DNB (Endo) PhD (Endo) From: 1 Departments of Endocrinology, 2 Radiodiagnosis & 3 Dermatology; Christian Medical College & Hospital, Vellore Corresponding Author: Thomas V Paul; Professor Department of Endocrinology Christian Medical College, Vellore Tamil Nadu, India address thomasvpaul@yahoo.com

2 Case presentation A 26 year old lady presented with history of multiple fractures following trivial fall since childhood. There was no history of developmental delay or mental retardation. She was born out of a consanguineous marriage and had similar illness in her sister. On examination, she was noted to have proportionate short stature (140cm, mid parental height -156cm), short stubby hands and feet with dysmorphic facial features which includedfrontal bossing, beaked nose, low set ears, midfacial hypoplasia, micrognathia and blue sclera. Dental examination showed persistence of deciduous teeth with crowding. She had normal secondary sexual characters. Rest of the systemic examination was unremarkable. Bone mineral biochemistry was normal except for low 25(OH)vitamin-D(17 ng/ml) levels. We performed X-ray of the both hands, left shoulder and skull(figure 1,2&3). What is the diagnosis? Answer: Pyknodysostosis. Along with clinical features, she had classical radiological findings of diagnostic of Pyknodysostosis. The X-ray hand and shoulder showed acral osteolysis of the terminal phalanges(fig. 1) and aplasia of acromial end of clavicle(fig. 2) respectively. The X-ray of the skull(fig. 3) displayed open anterior fontanelle and sutures, wormian bones, nonpneumatised paranasal sinues and obtuse mandibular angle. Pkynodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia. To date less than 200 patients has been reported in literature 1. It is caused by inactivating mutation in the lysosomal cathepsin-k gene located on chromosome 1q21 2. The reduced protease activity leads to less degradation of Type 1 collagen which constitutes 95% if organic bone matrix. As a consequence, the abnormally dense bone is brittle leading to fractures especially in long bones. The diagnosis is based on characteristic clinical and radiographic findings. Pathognomonic diagnostic features include diffuse osteosclerosis with recurrent fragility fractures, short stature, acroosteolysis of terminal phalanges and typical skull changes 3. Acroosteolysis with sclerosis of terminal phalanges is an essential pathological feature on radiographs in pyknodysostosis. Differential diagnosis includes Osteopetrosis,

3 idiopathic acroosteolysis and cleidocranial dysplasia. Cognitive function and life expectancy of the subjects is normal. No specific treatment has been identified. Despite recurrent fractures, healing is normal. Supportive management include fracture prevention, treatment and dental care. She was treated with cholecalciferol for vitamin-d deficiency. Disclosure The authors have no multiplicity of interest to disclose References 1. Valdes-Flores M, Hidalgo-Bravo A, Casas-Avila L, et al. Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings. Int J Clin Exp Med. 2014;7: Araujo TF, Ribeiro EM, Arruda AP, et al. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. Eur J Med Res. 2016; 21: Ramaiah KKK, George GB, Padiyath S, Sethuraman R, Cherian B. Pyknodysostosis: report of a rare case with review of literature. Imaging Sci Dent. 2011;41:177.

4

5

6