A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation. Mosaicism was first suspected in this family due to unequal allele ratios in the sequencing chromatograph of the initial blood sample of proband's father and confirmed by sequencing DNA extracted from the father's hair, collected from different bodily parts. This case highlights the need for a high index of clinical suspicion to detect low-level parental mosaicism, as well as a potential role for MAFB mutation screening in individuals with isolated FSGS.

Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

PURPOSE: To describe the manifestations, surgical treatment, and potential complications of Hajdu-Cheney syndrome (HCS), and the management of these complications. METHODS: The clinical presentation, management and outcome of HCS with severe osteoporosis and open skull sutures is presented, together with a literature review. RESULTS: A 20-year-old female with HCS underwent posterior occipitocervical fusion for symptoms of progressive basilar invagination. Because of delayed lambdoid suture closure, the stiff fusion construct lead to increased suture distraction, most notably in the upright (suture-open) position, with relief in the supine (suture-closed) position. This was successfully remedied with extension of the fusion construct anteriorly over the skull vertex to the frontal bones. CONCLUSIONS: In patients with HCS and other conditions with delayed suture closure, the surgeon must be cognizant of the presence of mobility at the suture lines, and consider extending the fusion construct anteriorly over the skull vertex up to the frontal bones. Because of significant osteoporosis in these syndromes, multiple fixation points and augmentation with bone graft are important principles.

Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome.

PURPOSE: No standard strategy exists for the management of cervical kyphotic deformity in patients with severe osteoporosis. In fact, in such subpopulation, standard algorithms commonly used in patients with normal bone mineral density may not be applicable. In this Grand Rounds, the authors present a challenging case of a patient with Hajdu-Cheney syndrome, a rare disorder of bone metabolism induced by a Notch-2 mutation, who presented with cervical kyphotic deformity and severe osteoporosis. METHODS: A 65-year-old female patient with a previous diagnosis of Hajdu-Cheney syndrome presented with cervical myelopathy and cervical kyphotic deformity. The initial MRi demonstrated multilevel cervical canal stenosis. The CT-scan also revealed marked spondylolisthesis of C6 over C7 as well as numerous laminar and pedicle fractures, resulting in a cervical kyphosis of approximately 50 degrees. RESULTS: The patient was submitted to 360-degree decompression and fusion of the cervical spine consisting of a staged C6 anterior corpectomy and multilevel microdiscectomies with wide opening of the posterior longitudinal ligament in order to provide a satisfactory release of anterior spinal structures, followed by 24 h of cervical halo-traction, a second anterior approach for bone graft implantation in the site of the corpectomy as well as insertion of allografts and completion of the ACDF C2-T1 and plating, and, finally, a posterior C2-T3 pedicle screw instrumentation using intra-operative CT-scan (O-arm) navigation guidance. CONCLUSIONS: This case illustrates some intra-operative nuances as well as specific surgical recommendations for cervical deformity surgery in patients with severe osteoporosis, such as avoidance of Caspar pins for interbody distraction, use of intra-operative fluoroscopy for achievement of bicortical purchase of anterior cervical screws and placement of pedicle screws during posterior instrumentation. Moreover, such illustrative case demonstrates that, in the subpopulation of patients with severe osteoporosis, it may be possible to successfully apply cervical distraction after an isolated anterior approach with a satisfactory improvement in the cervical alignment, possibly avoiding more laborious 540-degree approaches such as the previously described back-front-back or front-back-front surgical algorithms.

A case report of anesthesia for a child with Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome is an extremely rare disorder characterized by progressive skeletal acro-osteolysis, which results in extremity fractures and scoliosis often requiring surgical treatment from childhood. A unique facial structure and deformity of the cervical spine is associated with a difficult airway. We report here a 10-year-old girl with Hajdu-Cheney syndrome who developed progressive basilar impression and medullary compression for which foramen magnum decompression was performed. After slow induction of anesthesia, we were able to perform fiberoptic orotracheal intubation via a VBM bronchoscope airway. This case report contributes to the accumulation of knowledge about anesthesia for this rare syndrome.

Hajdu-Cheney syndrome: report of a case.

Hajdu-Cheney syndrome is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges. Cystic kidneys have been associated with some cases. We report a case of a 12-year-old girl with renal failure who underwent bilateral nephrectomies. Histopathological examination revealed polycystic kidneys with numerous nodules located throughout the kidney composed of basaloid epithelial cells.