Headache in patients with Paget’s Disease of Bones

Evangelatos, Gerasimos; Iliopoulos, Alexios

doi:10.22540/jfsf-02-016

Cited by 4 publications

(6 citation statements)

References 37 publications

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“…Neurological complications occur in up to 76% of PDB cases and can happen at any stage of the disease. They can affect both the central and peripheral nervous systems [ 4 ]. The neurological signs of PDB manifest mainly in the fifth, sixth, and seventh decades of life, with a male predominance [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…Thickening of the facial bones may lead to maxillary and/or mandibular bone deformities, leading to local pain and, by extension, headaches. Bone turnover of the skull can cause painful microfractures and may also increase the weight of the head and lead to occipital headaches because of the prolonged use of the cervical muscles to stabilize the position of the head [ 4 ]. Tumor degeneration of pagetoid lesions into osteosarcoma is a rare (< 1% of cases) but possible complication of PDB [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

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Headache and Status Epilepticus Reveal Paget’s Disease of the Bone

Ouhabi,

Tibar,

Benomar

et al. 2024

Cureus

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Paget's disease of the bone (PDB) is a benign osteodystrophy of the elderly characterized by excessive remodeling of bone tissue, mainly in the pelvis, femur, and skull. Its neurological manifestations are numerous and affect both the central and peripheral nervous systems. As headaches are often reported, epileptic seizures remain exceptional. We report the case of a 75-year-old female patient with a history of chronic worsening headache who was admitted to the emergency department for the first episode of a seizure. Brain imaging revealed heterogeneous bone thickening and circumscribed skull osteoporosis. Bone scintigraphy showed pagetoid lesions restricted to the skull and face. Alkaline phosphatases increased. The rest of the biological work-up and the cerebrospinal fluid study ruled out other metabolic causes or central nervous system infections. The patient was treated with bisphosphonates and anti-convulsive treatment. The evolution was satisfactory, with progressive improvement in headache and seizure control, even several months after discontinuation of anti-seizure medication. Our case report highlights the importance of exploring chronic headaches in the elderly, not only in search of lesions of the cerebral parenchyma but also of the structures containing them, in this case, the skull.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Headache and Status Epilepticus Reveal Paget’s Disease of the Bone

Ouhabi,

Tibar,

Benomar

et al. 2024

Cureus

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“…Potential causes of headache in GGS are (1) intracranial space‐occupying lesions (i.e., meningioma, medulloblastoma, hydrocephalus, choroid plexus tumor, among others); (2) referred pain from odontogenic diseases; (3) thick skull and/or foraminal compression; and (4) psychogenic 3,5–7 …”

Section: Discussionmentioning

confidence: 99%

“…Potential causes of headache in GGS are (1) intracranial spaceoccupying lesions (i.e., meningioma, medulloblastoma, hydrocephalus, choroid plexus tumor, among others); (2) referred pain from odontogenic diseases; (3) thick skull and/or foraminal compression; and (4) psychogenic. 3,[5][6][7] Regarding headache, in our case, the most probable diagnosis according to ICHD-3 classification was headache attributed to a disorder of cranial bone (11.1), 8 since it was exacerbated by pressure applied to the top part of the cranium and localized to the site of the cranial bone lesions (thickening of the calvaria). Because this patient's headache source was not better accounted for by another ICHD-3 diagnosis, including migraine (it did not have a unilateral location, was not throbbing, aggravated by or causing avoidance of routine physical activity, with no nausea, vomiting, photophobia, and/or phonophobia), tension-type headache (it was exacerbated by pressure applied to the cranial bone), and other primary and secondary headaches.…”

Section: Discussionmentioning

confidence: 99%

Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report

Ghosh

León‐Ruiz

Purkait

et al. 2023

Neurology & Clinical Neurosc

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Gorlin‐Goltz syndrome is an autosomal dominant multisystemic disease with high penetrance. Headache heralding Gorlin‐Goltz syndrome has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46‐year‐old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.

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“…Mostly, they include: bone pain in the affected region; possible warmth and redness accompanying pain due to an increased vascularisation; bone enlargement and deformities such as bowing of the legs, skull enlargement, and kyphosis may be present; and the axial skeleton, which is most commonly affected. Other clinical elements are: constipation, abdominal pain, and hearing loss, as well as headache, especially related to skull involvement [ 10 , 24 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

Paget’s Disease of the Bone and Lynch Syndrome: An Exceptional Finding

et al. 2023

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Our objective is to present an exceptional case of a patient diagnosed with Paget’s disease of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman was admitted for progressive pain in the left forearm 2 years ago, and was partially relieved since admission by non-steroidal anti-inflammatory drugs. Suggestive imaging findings and increased blood bone turnover markers helped the diagnosis of PDB. She was offered zoledronate 5 mg. She had two more episodes of relapse, and a decision of new medication was taken within the following years (a second dose of zoledronate, as well as denosumab 60 mg). Her family history showed PDB (mother) and colorectal cancer (father). Whole exome sequencing was performed according to the manufacturer’s standard procedure (Ion AmpliSeq™ Exome RDY S5 Kit). A heterozygous pathogenic variant in the SQSTM1 gene (c.1175C>T, p.Pro392Leu) was confirmed, consistent with the diagnosis of PDB. Additionally, a heterozygous pathogenic variant of MSH2 gene (c.2634+1G>T) was associated with LS. The patient’s first-degree relatives (her brother, one of her two sisters, and her only daughter) underwent specific genetic screening and found negative results, except for her daughter, who tested positive for both pathogenic variants while being clinically asymptomatic. The phenotype influence of either mutation is still an open issue. To our current knowledge, no similar case has been published before. Both genetic defects that led to the two conditions appeared highly transmissible in the patient’s family. The patient might have an increased risk of osteosarcoma and chondrosarcoma, both due to PDB and LS, and a review of the literature was introduced in this particular matter. The phenotypic expression of the daughter remains uncertain and is yet to be a lifelong follow-up as the second patient harbouring this unique combination of gene anomalies.

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Headache in patients with Paget’s Disease of Bones

Cited by 4 publications

References 37 publications

Headache and Status Epilepticus Reveal Paget’s Disease of the Bone

Headache and Status Epilepticus Reveal Paget’s Disease of the Bone

Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report

Paget’s Disease of the Bone and Lynch Syndrome: An Exceptional Finding

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