ABSTRACT
Background: Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. Case characteristics: A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. Outcome: Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. Message: Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.
ABSTRACT
Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a connective tissue disorder known for marked variability of its clinical presentation. The authors report CED in a 25-year-old male with atypical involvement of metacarpals (acrosclerosis) and features of neuromuscular disease along with the classical features of the disease.
ABSTRACT
A doença de Camurati-Engelmann é uma displasia diafisária progressiva, autossômica dominante, caracterizada por progressiva expansão cortical e esclerose, que afeta, na maioria das vezes, as diáfises dos ossos longos, associada à hiperostose craniana. As manifestações clínicas são dor óssea nos membros inferiores, fraqueza muscular e atrofia muscular. Os autores relatam um caso de doença de Camurati-Engelmann em paciente masculino, de um ano de idade com diagnóstico avaliado pela radiografia simples, tomografia computadorizada, cintilografiaóssea e exames laboratoriais durante oito anos de evolução da doença. Ressalta-se a importância do diagnóstico diferencial com outras doenças que cursam com hiperostose e o emprego de corticosteroide para controle do quadro álgico.
Camurati-Engelmann disease is a rare progressive diaphyseal dysplasia, autosomal dominant, characterized by progressive cortical expansion and sclerosis mainly affecting the diaphysis of the long bones associated with cranial hyperostosis. The clinical manifestations are lower limbs bone pain, muscle weakness and muscular atrophy. The authors report a case of Camurati-Engelmann disease in a 1-year-old male patient who was submitted to plain radiography, computed tomography, bone scintigraphy and laboratory exams for eight years. The authors emphasize theimportance of the differential diagnosis with other diseases that attend hyperostosis and the use of corticosteroids to control the pain.
ABSTRACT
A displasia diafisária progressiva ou doença de Camurati-Engelmann é uma doença rara, caracterizada por dor e fraqueza muscular dos membros afetados e espessamento progressivo da cortical diafisária dos ossos longos. Os autores descrevem o caso clínico de um doente com manifestações iniciais da doença na infância, mas cujo diagnóstico só foi estabelecido durante a idade adulta, depois de evoluída a doença e após surgirem as mesmas manifestações em um dos filhos. Salienta-se a dificuldade no diagnóstico e a relevância do diagnóstico diferencial com outras doenças que cursam com osteoesclerose e/ou hiperostose. Na literatura é rara a descrição da sua evolução ao longo dos anos.
Camurati-Engelmann Disease or progressive diaphyseal dysplasia is a rare disease, characterized by limb pain and muscular weakness, and cortical thickening of the diaphyses of long bones. The authors report a case of a male patient with manifestations since his childhood, whose diagnosis was established later on, when he was an adult, with the disease already progressed, and when the same manifestations began in one of his sons. The importance of the differential diagnosis regarding other diseases concurrent with osteosclerotic and/or hyperostotic changes is emphasized here. Description of its evolution along the years is rarely found in the literature.
Subject(s)
Humans , Male , Middle Aged , Camurati-Engelmann Syndrome , Diagnosis, Differential , Rare DiseasesABSTRACT
A 24 year-old female presented for a (99m)Tc-methylene diphosphonatae (MDP) whole body bone scan due to chronic pain in the bilateral lower extremities that has aggravated since 2002. She was diagnosed with Camurati-Engelmann disease (CED) based on the clinical and radiological findings in 2002, and she re-visited our institute to evaluate disease status at this time. CED is a rare autosomal dominant type of bone dysplasia characterized by progressive cortical thickening of long bones, and narrowing of medullary cavity, and thus presents with typical clinical symptoms and signs such as chronic pain in the extremities, muscle weakness, and waddling gait. On the (99m)Tc-MDP bone scan performed to evaluate disease status, intense increased uptake was seen in the skull, facial bones, bilateral scapulae, bilateral long bones, and bilateral pelvic bones, which clearly demonstrated the extent of CED involvement.