ABSTRACT

Hadju - Cheney Syndrome accompanying kyphoscoliosis and synovitis with bilateral hip pain. A case report.

Hadju - Cheney syndrome is rare disease cha-racterized with skeletal system deformities due to generalized osteoporosis, acro-osteolysis at the terminal phalanxes of hands and feet, late closure of cranial sutures, absence of frontal sinus, crani-ocervical dysplasia, premature tooth disappearan-ce and urinary dysfunction. Here, we present a pa-tient with Hadju - Cheney syndrome who had a de-compression operation due to craniocervical dysplasia but admitted 8 months after the operation with bilateral significant hip pain and inability to walk. This case was added to the literature by Şıklar and coworkers reporting growth hormone insuf-ficiency and peripheral neuropathy, and this time we aim to present the neurochirurgical and ortho-paedic findings, which were not previously menti-oned in detail. Clinical, laboratory, radiographic, scintigraphic, MR imaging, bilateral hip joint aspira-tion and bone densitometer of the patient was per-formed. This disease was not encountered in any of the members of his family and this led us to reg-ret this case as sporadic. The patient had anterior or lateral compression with pathologic fractures at T-3 to T-11 spanning 9 vertebrae causing 40° of ri-gid thoracic scoliosis and 106° of kyphosis. Additi-onally, bilateral genu valgum, acro-osteolysis at 1st, 2nd, 3rd, and 4th distal phalanxes of both hands and short 4th and 5th metacarpi were noted. Vertical position of triquetrum, distal radial epiphy-sial irregularity and bilateral radioulnar dislocation are finding that were not reported in the related literature. This patient aged 13 years has admitted with dysphagia and ventilator dysfunction and MR imaging revealed anterior cervicomedullary wed-ding, compression to medulla oblongata, biventri-cular hydrocephalus and basilar invagination. With the complaints and findings, C-2 corpectomy, re-section of C-1 anterior arcus and anterior process and anterior decompression was ventilatory and dysphagia complaints. Severe painful gait causing inability to walk which occurred after the operation was addressed as transient synovitis after meticu-lous examination of the patient with MR imaging showing subcapsullar thicking with joint space nar-rowing, pericapsular sclerosis and soft tissue inten-sity around the hip joint. Avascular necrosis was eliminated in three-phase bone scanning. Also joint fluid analysis was performed to differentiate this disease from pyogenic or rheumatoid arthritis. Bed rest and NSAI were given and after pain relive an active rehabilitation was started with 6 months of Scottish Rite orthosis aiming to prevent avascular necrosis onset and hip range of motion preservati-on. After 6 months follow-up controls, full range of motion was maintained with pain free walking. The patient took 10-mg/day alendronate therapies for osteoporosis and BMD which was 0.577 gr/cm2 (T: -5.2) at the lumbar region and 0.688 gr/cm2 (T: - 2.46) at the hip region improved by 21.3 % and 18.3 % respectively and fracture risk was signifi-cantly lowered. Data in our study showed NSAI therapy combined active rehabilitation with Scottish rite orthosis is an effective in the treatment of hip joint synovitis. Additionally alendronate therapy is also thought to be effective in prevention of new fractures results skeletal deformities in Hadju -Cheney syndrome accompanied with osteoporosis. Surgical treatment is not advisable for severe kyphoscoliosis because of high risk of neural defi-cit and instrument failure due to generalize osteoporosis in the patient with Hadju-Cheney sydro-me.