However, treatment had to be suspended as the patients became Cushingoid. The symptomatic patient from family 5 benefited from prednisolone treatment as pain and muscle weakness disappeared, while appetite and vigour increased. [doi.org]

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]

Note the absence of subcutaneous fat (weight 27 kg), muscle hypotrophy, and valgus deformity of the knees and feet. Muscle weakness restricts her maximum walking distance to 20 to 50 m. [doi.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]

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]

atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions and paroxysmal choreoathetosis, familial Maturity-onset diabetes of the young Chylous ascites Familial breast cancer Multiple familial trichoepithelioma [checkrare.com]

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]

[…] of the long bones Ghosal hematodiaphyseal dysplasia (OMIM 231095 ) TBXAS1 AR Diaphyseal sclerosis Severe anemia; leukopenia & thrombocytopenia Endosteal hyperostosis, AD (OMIM 144750 ) LRP5 AD Diaphyseal sclerosis (endosteal), cranial nerve involvement [ncbi.nlm.nih.gov]

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

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]

[…] 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]

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]

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

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]

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]

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]

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]

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]

Craniectomy has relieved increased intracranial pressure and headaches in affected individuals [ Carlson et al 2010 ]. [ncbi.nlm.nih.gov]

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]

ataxia, deafness, and narcolepsy Achondrogenesis type 2 Tangier disease Charcot-Marie-Tooth disease type 2F Niemann-Pick disease type B Macrocephaly mesodermal hamartoma spectrum PHAVER syndrome Hunter Rudd Hoffmann syndrome D-glycericacidemia Dystonia [checkrare.com]

nerve involvement in some Wide deep mandible w/ gonial angle (distinct from the enlarged mandible found only occasionally in CED) SOST -related sclerosing bone dysplasias incl sclerosteosis & van Buchem disease SOST AR Cranial hyperostosis, cranial nerve [ncbi.nlm.nih.gov]

[…] cortical activity in areas of disease CT Reveals the skull thickening MRI Has been reported to delineate cranial nerve involvement GROSS PATHOLOGY Dense endosteal bone HISTOLOGIC AND MOLECULAR FEATURES Intramembranous ossification disorder although abnormal [orthopaedicsone.com]

nerve involvement but also evaluate for signs of increased ICP and brainstem herniation. [jamanetwork.com]

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]