ABSTRACT
Resumen El síndrome de Camurati-Engelmann, también conocido como displasia diafisaria progresiva, es una enfermedad rara, autosómica dominante y con una prevalencia de uno por cada millón de habitantes. Genera mutaciones del factor de crecimiento transformante beta, que participa en la proliferación ósea. Son frecuentes las manifestaciones osteomusculares y neurológicas, con escasas expresiones de laboratorio. El diagnóstico se basa en la clínica, los hallazgos radiológicos y la confirmación genética; el tratamiento se dirige al control sintomático y el pronóstico es incierto. La presente publicación tiene como objetivo compartir con la comunidad médica el tercer caso de síndrome de Camurati-Engelmann conocido en Colombia. Se trata de una paciente femenina de 33 años con cuadro clínico de distonías intensas y signos y síntomas característicos de este síndrome, cuyo diagnóstico fue confirmado por prueba molecular, encontrando la presencia de la variante patogénica p.Arg156Cys en el gen TGF-β1, con presentación de novo. MÉD.UIS.2021;34(1): 119-27.
Abstract Camurati-Engelmann syndrome, also known as progressive diaphyseal dysplasia, is a rare, autosomal dominant disease with a prevalence of one per million inhabitants. It generates mutations of the transforming growth factor beta, which participates in bone proliferation. Osteomuscular and neurological manifestations are frequent, with few laboratory expressions. The diagnosis is based on the clinic, radiological findings, and genetic confirmation, treatment is aimed at symptom control and prognosis is uncertain. The objective of this publication is to share with the medical community the third case of Camurati-Engelmann syndrome known in Colombia. This is a 33-year- old female patient with a clinical picture of intense dystonia and characteristic signs and symptoms of this syndrome, whose diagnosis was confirmed by molecular testing, finding the presence of the pathogenic variant p.Arg156Cys in the TGF-β1 gene, with de novo presentation. MÉD.UIS.2021;34(1): 119-27.
Subject(s)
Humans , Female , Adult , Transforming Growth Factor beta , Camurati-Engelmann Syndrome , Hyperostosis , Dystonic DisordersABSTRACT
Progressive diaphyseal dysplasia , also called Camurati-Engelmann disease (CED), is a kind of autosomal dominant disease mainly involved in long diaphysis , characterized as progressive and symmetric cortical thickening as well as low prevalence.The pathogenic gene of the disease is TGFB 1 located in 19q13, resulting in abnormal bone metabolism.We report a young woman suffering from CED , mainly presented as decreased visual acuity , chronic high intracranial pressure and skull damages by cerebral angiography.The digital subtraction angiography revealed the right transverse sinus stenosis .We first revealed a CED patient with chronic high intracranial pressure caused by sinus stenosis , and selected intravascular therapy for the sinus stenosis.
ABSTRACT
BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. RESULTS: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m²). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. CONCLUSIONS: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.
Subject(s)
Child , Humans , Body Mass Index , Camurati-Engelmann Syndrome , Diagnosis , Diagnosis, Differential , Diaphyses , Emaciation , Extremities , Follow-Up Studies , Gait , Leg , Medical Records , Molecular Biology , Mothers , Myalgia , Orthopedics , Phenotype , Rare Diseases , Retrospective Studies , Running , Sports , Thinness , Tibia , Transforming Growth Factor beta , WalkingABSTRACT
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.