Patients were classified into three groups according to the mode of initial presentation to medical service. We categorized the patients into three groups according to the mode of presentation. [synapse.koreamed.org]

We describe the first Indian CED family with genetic confirmation and presenting manifestations. The proband is a 17-year-old woman who presented with lower limb pain and proximal muscle weakness. [semanticscholar.org]

The present study emphasized the importance of clinical and genetic evidence for the diagnosis of CED. The data presented in the present study are of significance to clinicians, as well as genetic counselors, in the prenatal screening of CED. [spandidos-publications.com]

Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]

The child in our report presented with the typical clinical features of leg pains and a waddling gait. The plain radiographs, in conjunction with the normal biochemical parameters and the clinical presentation, led to the diagnosis. [academic.oup.com]

• Intravenous Administration

  After 2 hours of the intravenous administration of 99m Tc- technetium-99m-methylene diphosphonate (MDP) with a dose of 740MBq, the planar whole body image was obtained (Fig. 1). [journals.lww.com]

• Aspiration

  Erythrocyte sedimentation rate was 79 mm/h (N 1–7 mm/h) and C-reactive protein was 53 mg/l (N To exclude malignancy a bone marrow aspirate was performed revealing normal marrow. Muscle biopsy excluded active inflammation. [academic.oup.com]

• Absent Nails

  nails Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Camurati-Engelmann disease (CED), the initial evaluation should include the following if they have not already been [ncbi.nlm.nih.gov]

• Hearing Impairment

  impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperlordosis Prominent swayback 0003307 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Hypogonadism Decreased activity of gonads 0000135 [rarediseases.info.nih.gov]

  Pubmed Higashi K, Matsuki C: Hearing impairment in Engelmann disease. Am J Otol. 1996 Jan;17(1):26-9. [orthopaedicsone.com]

• Flexion Contracture

  Gene TGF-β1 gene, 19q13.2 (OMIM gene/locus number *190180 ) Phenotype Marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, cortical thickening of the diaphyses [iofbonehealth.org]

  During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, [ncbi.nlm.nih.gov]

• Muscular Atrophy

  Progressive muscular atrophy and decreased subcutaneous fat in the limbs also can occur. Easy fatigability is a symptom that has been described in 44%. The cardinal symptom of the disease is bone pain in the extremities in 90% of cases. [elsevier.es]

  […] dystrophy type 1B Ptosis strabismus ectopic pupils Manitoba oculotrichoanal syndrome Leri pleonosteosis Frontonasal dysplasia Limb-girdle muscular dystrophy Hypomyelination with atrophy of basal ganglia and cerebellum PGM1-CDG Cockayne syndrome type [checkrare.com]

• Bowing of The Long Bones

  sensorineural hearing loss, sclerosis of long bones Predisposition to fractures, bowing of the long bones Ghosal hematodiaphyseal dysplasia (OMIM 231095 ) TBXAS1 AR Diaphyseal sclerosis Severe anemia; leukopenia & thrombocytopenia Endosteal hyperostosis [ncbi.nlm.nih.gov]

• Diplopia

  […] weakness 0001324 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bone marrow hypocellularity Bone marrow failure 0005528 Diaphyseal sclerosis Increased bone density in shaft of long bone 0003034 Diplopia [rarediseases.info.nih.gov]

  […] and increased ICP. 62 Anterior fossa involvement commonly manifests with frontal bossing and exophthalmos, 29 and hyposmia has been reported in 1 patient. 23 Most patients with globe protrusion are asymptomatic, but a small percentage may experience diplopia [jamanetwork.com]

• Blurred Vision

  Involvement of the orbit has led to blurred vision, proptosis, papilledema, epiphora, glaucoma, and subluxation of the globe [ Carlson et al 2010, Popiela & Austin 2015 ]. [ncbi.nlm.nih.gov]

  At 14 years of age, patient 2 underwent evaluation for increased headaches, blurred vision, and papilledema. During lumbar puncture she was found to have an elevated opening pressure of 35 cm H 2 O. [jamanetwork.com]

• Waddling Gait

  Patients generally present with pain in the extremities, waddling gait, easy fatigability, and muscle weakness. Pain may be severe, constant and aching and is exacerbated by cold weather and physical activity. [orpha.net]

  CED typically presents in childhood with generalized muscle weakness, lower limb pains and a waddling gait [ 1, 2 ]. [academic.oup.com]

  A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. [ncbi.nlm.nih.gov]

• Headache

  If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. [rarediseases.org]

  She is now 63 years of age and has not had a recurrence of visual symptoms or headache. Patient 6 experienced headache and vision changes in the absence of exophthalmia or radiographic anterior cranial fossa involvement. [jamanetwork.com]

  […] and the severity of the condition. [3] Treatment options to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches [rarediseases.info.nih.gov]

  An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis [xpertdox.com]

  In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems [ghr.nlm.nih.gov]

• Cerebellar Ataxia

  Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence [orpha.net]

  Camurati-Engelmann disease: two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. J Bone Miner Res 1998 ; 13 : 1203 –7. 8 Allen DT, Saunders AM, Northway WH, Williams GF, Schafer IA. [academic.oup.com]

  34 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Limb-girdle muscular dystrophy Muscular dystrophy Witkop syndrome Brugada syndrome Ruzicka Goerz Anton syndrome Sacral hemangiomas multiple congenital abnormalities [checkrare.com]

• Broad-Based Gait

  This is observed by the broad-based gait with a duck-like waddle to the swing phase, the pelvis drops to the side of the leg being raised, notable forward curvature of the lumbar spine and a marked body swing. [5] [6] The pain is especially severe during [en.wikipedia.org]

  This is observed by the broad-based gait with a duck-like waddle to the swing phase, the pelvis drops to the side of the leg being raised, notable forward curvature of the lumbar spine and a marked body swing. [12] [13] The pain is especially severe during [ipfs.io]

• Loss of Speech

  Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence [orpha.net]

  Rarely, clonus [ Neuhauser et al 1948 ], sensory loss, slurred speech, dysphagia, cerebellar ataxia, and bowel and bladder incontinence are reported [ Carlson et al 2010 ]. [ncbi.nlm.nih.gov]

Methods Clinical data were collected and a general laboratory workup was performed. At the lumbar spine and hip, BMD and TBS were measured using DXA imaging. [link.springer.com]

The purpose of this study was to investigate the mode of presentation of mutation-confirmed type I CED in order to facilitate adequate diagnostic workup. [synapse.koreamed.org]

[…] muscle mass and muscle weakness ( 39 %) reported Abnormal gait reported in a 2 yr old Waddling gait in 48 % reported Plain radiographs can be useful in the workup of neuromuscular disorders in children Camurati-Engelmann Disease and other dysplasias should [orthopaedicsone.com]

Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). [ncbi.nlm.nih.gov]

The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. [ipfs.io]

Management and treatment No disease-modifying treatment is available. Corticosteroids are reported to relieve the symptoms of CED. Analgesics and non-pharmacological methods can be used to treat pain. [orpha.net]

Prognosis CED is a progressive disorder and prognosis is poor. Depending on the severity, quality of life is impaired by pain and reduced mobility. The documents contained in this web site are presented for information purposes only. [orpha.net]

Plain radiograph there is fusiform bony enlargement with sclerosis in long bones 6 the epiphyses are spared Bone scintigraphy affected regions show high uptake with Tc 99 -MDP bone scintigraphy representing osteoblastic activity 4 Treatment and prognosis [radiopaedia.org]

(Outcomes/Resolutions) The prognosis of Camurati-Engelmann disease is generally good with appropriate treatment. [dovemed.com]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

English : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvsalud.org]

Etiology In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. [orpha.net]

DOI: https://doi.org/10.22141/1608-1706.5.16.2015.79831 Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Clinical Supervision Abstract A brief review of the literature on the etiology, pathogenesis, prevalence and clinical manifestations [trauma.zaslavsky.com.ua]

1975) Allowable Qualifiers English : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvsalud.org]

Summary Epidemiology The prevalence is unknown but more than 300 cases have been reported to date. CED has been described in various ethnic groups, and males and females are affected equally. [orpha.net]

Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

Cranial affection occurs in 38% of cases and can be manifested by atrophy of the optic nerve, glaucoma, subluxation of the eyeball, sensorineural or conductive hearing loss in 15%. 12 The pathophysiology of this lesions is based on nerve compression or [elsevier.es]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

Diagnosis, 77 Treatment, 77 Illustrations (Figs 4.1–4.5), 77–79 Skin diseases associated with diabetes, 80 Definition, 80 Etiology, 80 Signs and symptoms, 80 Diagnosis, 80 Treatment, 80 Illustrations (Figs 4.6 & 4.7), 80–81 Diabetic foot, 81 Definition, 81 Pathophysiology [euro-libris.ro]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvsalud.org]

Note: Steroids may delay bone hyperostosis and prevent or delay the onset of skull involvement. [ncbi.nlm.nih.gov]