ECE2022 Poster Presentations Calcium and Bone (68 abstracts)
Syringomyelia and neurologic symptoms as rare complications in untreated adult with X-linked hypophosphatemic rickets
Mihaela Tarna 1 , Ana-Maria Stancu 2,3 , Marian Andrei 1 , Raluca Oprescu 1 , Marina Iliescu 1 , Iulia Soare 2 , Anca Elena Sirbu 1,2 , Luminita Nicoleta Cima 1,2 & Fica Simona 1,2
1“Elias“ Emergency and Universitary Hospital, Endocrinology, Bucharest, Romania; 2“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; 3National Institute of Endocrinology “C.I. Parhon”, Bucharest, Romania
X-linked hypophosphatemia is a rare inherited disorder, yet the most common among the inherited causes of rickets. It is caused by different mutations in the PHEX gene leading to an impaired regulation of fibroblast growth factor 23 (FGF 23) and renal phosphate wasting. Patients with XLH show multiple musculoskeletal complications which usually can lead to early diagnosis in childhood. Nevertheless XLH is a lifelong disease, with multisystemic manifestations, including enthesopathies, dental and periodontal recurrent lesions, hearing loss, fractures and pseudofractures, muscle pain and diminished quality of life. We describe the case of a 21 years old male patient, misdiagnosed as vitamin D deficient rickets in infancy, with short stature, progressive bone deformities, leg bowing and waddling gait which required multiple orthopedic interventions. As a particular manifestation he accused episodes of moderate occipital headaches, aggravated with Valsalva maneuvers, and mildly impaired lower limb proprioception. MRI imaging showed a syringomyelic cavity at C5-T1, but with cerebellar tonsils above the foramen magnum. A few months later, episodes of bilateral upper limb paresthesia have appeared, so that repeated MRI monitoring is required and a neurosurgical approach should be considered. With this case we want to draw attention to the severe and rare neurological complications of this rare condition, and to the importance of long term follow-up with a multidisciplinary approach.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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