Artrodesis total de muñeca en paciente con síndrome de Hajdu Cheney: reporte de caso / Total wrist arthrodesis in a patient with Hajdu-Cheney syndrome: a case report

El síndrome de Hajdu-Cheney, es una patología infrecuente caracterizada por alteraciones esqueléticas que se manifiestan con acro-osteolisis y osteoporosis generalizada. Su frecuencia es extremadamente rara y existen escasos reportes en la literatura a nivel mundial. Se presenta un caso de un paciente con colapso avanzado del carpo producto de una no unión de escafoides no tratada. Se describen características clínicas y radiográficas del paciente y la resolución del caso con artrodesis total de muñeca.

Hajdu-Cheney syndrome is an uncommon skeletal disorder characterized by acroosteolysis and generalized osteoporosis. It is an extremely rare condition and few reports have been published in worldwide literature. We present a case of a patient with advanced carpal collapse product of a scaphoid non-union with Hajdu-Cheney syndrome. We describe clinical and radiographic characteristics and resolution of the case with total wrist arthrodesis.

Síndrome de Hadju-Cheney: alterações renais em um relato de caso / Hadju-Cheney syndrome: kidney disturbs in a case report

A síndrome de Hadju-Cheney é uma doença genética caracterizada por dismorfismos craniofaciais e alterações ósseas responsáveis pelo fenótipo da doença. As alterações renais, como cistos renais corticais, refluxo vesico - ureteral e falência renal, são raramente relatadas, mas são incluídas como apresentações menos comuns. O diagnóstico genético ainda não está disponível e a patogênese é relacionada a mutações no gene NOTCH. Os autores relatam um caso de um homem de 26 anos; porém, com características fenotípicas de um paciente pediátrico. Ele se apresentou com síndrome nefrótica, hipertensão arterial, cistos renais corticais e insuficiência renal aguda requerendo hemodiálise. A biopsia renal evidenciou glomeruloesclerose focal e segmentar e o tratamento para esse paciente foi de suporte com terapia hemodialítica. O diagnóstico da síndrome de Hadju-Cheney foi dado durante investigação do quadro renal.

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.

An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.

Effect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome

Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest that anti-resorptive therapy may be important in delaying the progress of osteoporosis and preventing fractures, but not necessarily acro-osteolysis itself.