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Musculoskeletal syndrome leading to enhanced bone
formation, hyperostosis, and sclerosis of the diaphyses of the long bones.
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Progressive Diaphyseal Dysplasia; Engelmann Disease;
Osteopathia Hyperostotica Scleroticans Multiplex Infantalis.
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The exact incidence is unknown. To date, approximately
200 cases have been described. No racial predilection.
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Autosomal dominant. Camurati-Engelmann
syndrome (CES) is caused by mutations in the β1 transforming
growth factor gene (TGFB1) located on 19q13.1-q13.3. A variant exists in
which TGFB1 is not altered.
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Growth suppression of fibroblasts and
proliferation of osteoblasts lead to characteristic thickening of bony
cortices on periosteal surfaces and in the medullary canal. Initially, the
disorder occurs in femur and tibia, but then progressively spreads to other
bones.
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Based on clinical findings. Confirmed by radiology.
Muscle biopsy reveals atrophy, but is unspecific.
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The disease typically presents with severe bone
pain (especially in the legs), gait anomalies (waddling and broad-based) and
difficulties in running, easy fatigability, and reduced muscle mass with
proximal muscle weakness in childhood or adolescence, but onset in the third
decade has been described. The changes begin bilaterally in femur and/or
tibia, resulting in massive endosteal and periosteal thickening of the
diaphyseal corticalis (diaphyseal sclerosis). As the disease progresses,
other skeletal findings occur, such as diaphyseal widening, Erlenmeyer flask
deformity, coxa and genua valga, joint contractures, sclerosis of the skull
base, the mandible, posterior parts of vertebrae, kyphosis, and scoliosis.
Head and neck involvement may occur later in the course of the disease and
include frontal bossing, proptosis, enlargement of the mandible, frequent
headache, and cranial nerve impingements (in more than one third of
patients) that may result in deafness (conductive and/or sensorineural),
optic nerve compression (papilledema has been described), visual impairment,
glaucoma, diplopia, and facial palsy. The patients usually appear slim to
cachectic, sometimes referred to as marfanoid habitus. Delayed dentition
with severe caries, delayed puberty, hepatosplenomegaly secondary to
extramedullary hematopoiesis (thought to be a consequence of narrowing of
the medullary cavities) are features that have occasionally been described.
Steroids have been shown not only to alleviate the pain but also to halt or
even reverse the underlying findings in many patients. Nonsteroidal
antiinflammatory drugs are also used for pain control.
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Obtain a complete blood count
(including platelets) to rule out bone marrow insufficiency. In patients
with hepatosplenomegaly, liver function should be checked (transaminases,
bilirubin, albumin, coagulation profile). In later stages of the disease,
mouth opening and neck mobility should be checked carefully because airway
management could be complicated by changes in the mandible and the neck.
Assess the extent of cranial neuropathies and muscular weakness. Depending
on the procedure, prolonged postoperative mechanical ventilation may be
required if kyphosis/scoliosis and muscle weakness are significant.
Preoperative pulmonary function tests and an echocardiography (cor
pulmonale) may be indicated in selected patients. Expect communication
difficulties in the presence of deafness and visual impairment. Sedative
and/or hypnotic premedication and/or presence of the primary ...