A rare cause of facial nerve palsy in children: Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review

Egmond, Martje E van; Dikkers, Frederik G.; Boot, Annemieke M.; Lierop, A.H.J.M. Van; Papapoulos, S. E.; Brouwer, Oebele F.

doi:10.1016/j.ejpn.2012.03.002

Cited by 11 publications

(10 citation statements)

References 8 publications

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“…The phenotype of our patients with VBD is in keeping with previously described clinical features of the disease 1–3, 15, 22, 25. Our data also confirm that the clinical course of VBD is less severe than that of sclerosteosis, in which the majority of patients develop conductive hearing loss in early childhood and raised intracranial pressure around adolescence or early adulthood,4, 11 the latter being the main cause of death in patients with sclerosteosis.…”

Section: Discussionsupporting

confidence: 90%

“…Eleven of the 12 adult patients had a large, high forehead, and the mandible was enlarged in 10, with 1 patient having had corrective surgery of her lower jaw. The 3 children had no apparent facial dysmorphic features 15. The average circumference of the skull in adults was 63.6 cm ( Z ‐score: + 3.4) for men, and 61.3 cm ( Z ‐score: + 3.2) for women.…”

Section: Resultsmentioning

confidence: 97%

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Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Lierop

Hamdy

Egmond

et al. 2012

Journal of Bone and Mineral Research

111

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Van Buchem disease (VBD) is a rare bone sclerosing dysplasia caused by the lack of a regulatory element of the SOST gene, which encodes for sclerostin, an osteocyte-derived negative regulator of bone formation. We studied the demographic, clinical, biochemical, and densitometric features of 15 patients with VBD (12 adults and 3 children) and 28 related carriers of the gene mutation. The most common clinical findings in patients were facial palsy (100%) and various degrees of hearing impairment (93%); raised intracranial pressure had been documented in 20%. The clinical course of the disease appeared to stabilize in adulthood, with the majority of patients reporting no progression of symptoms or development of complications with time. Carriers of the disease had none of the clinical features or complications of the disease. Sclerostin could be detected in the serum in all but 1 VBD patients (mean 8.0 pg/mL; 95% confidence interval [CI], 4.9-11.0 pg/mL), and were lower than those of carriers (mean 28.7 pg/mL; 95% CI, 24.5-32.9 pg/mL; p < 0.001) and healthy controls (mean 40.0 pg/mL; 95% CI, 34.5-41.0 pg/mL; p < 0.). Serum procollagen type 1 amino-terminal propeptide (P1NP) levels were also significantly higher in adult patients (mean 96.0; 95% CI, 54.6-137.4 ng/mL versus mean 47.8; 95% CI, 39.4-56.2 ng/mL, p ¼ 0.003 in carriers and mean 37.8; 95% CI, 34.5-41.0 ng/mL, p ¼ 0.028 in healthy controls) and declined with age. Bone mineral density (BMD) was markedly increased in all patients (mean Z-score 8.7 AE 2.1 and 9.5 AE 1.9 at the femoral neck and spine, respectively); BMD of carriers was significantly lower than that of patients but varied widely (mean Z-scores 0.9 AE 1.0 and 1.3 AE 1.5 at the femoral neck and spine, respectively). Serum sclerostin levels were inversely correlated with serum P1NP levels (r ¼ -0.39, p ¼ 0.018) and BMD values (femoral neck r ¼ -0.69, p < 0.001; lumbar spine r ¼ -0.78, p < 0.001). Our results show that there is a gene-dose effect of the VBD deletion on circulating sclerostin and provide further in vivo evidence of the role of sclerostin in bone formation in humans. The small amounts of sclerostin produced by patients with VBD may explain their milder phenotype compared to that of patients with sclerosteosis, in whom serum sclerostin is undetectable. ß

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Section: Discussionsupporting

confidence: 90%

Section: Resultsmentioning

confidence: 97%

Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Lierop

Hamdy

Egmond

et al. 2012

Journal of Bone and Mineral Research

111

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“…The thickened calvarium, skull base and mandible will be correlated with increased bone mineral density and biochemical measurements. 23,24 Remodelling of the surface of the long bones is absent. 23,24 Sclerosterosis or Truswell-Hansen disease (Figure 7) is similar to Van Buchem's disease, but occurs in early childhood, especially in Afrikaners or others of Dutch ancestry.…”

Section: Disorders Of Intramembranous Ossificationmentioning

confidence: 99%

“…23,24 Remodelling of the surface of the long bones is absent. 23,24 Sclerosterosis or Truswell-Hansen disease (Figure 7) is similar to Van Buchem's disease, but occurs in early childhood, especially in Afrikaners or others of Dutch ancestry. Syndactyly of the second and third digit, nail dysplasia and a tall stature are typical.…”

Section: Disorders Of Intramembranous Ossificationmentioning

confidence: 99%

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

Boulet¹,

Madani²,

Lenchik³

et al. 2016

BJR

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There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.

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“…[ 4 ] The prevalence of VBD is very low, with fewer than 35 cases reported so far. [ 5 ] We present one such case and attempt to provide a detailed understanding of VBD to all physicians.…”

Section: Introductionmentioning

confidence: 99%

Van Buchem disease

Hsu

Chen

2017

Medicine

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Rationale:Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan.Patient concerns:A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40.Diagnoses:She received a diagnosis of VBD based on the phenotypic abnormalities of the skull and mandible, facial nerve involvement, radiological images of the skeleton, and her family history.Interventions:She received symptomatic treatment and surgical decompression for spinal stenosis.Outcomes:Her clinical condition did not improve satisfactorily.Lessons:We hope to promote clinician awareness of this very rare disease and its symptoms and signs. A comprehensive understanding of VBD might lead to the development of a curative therapy in the future.

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A rare cause of facial nerve palsy in children: Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review

Cited by 11 publications

References 8 publications

Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

Van Buchem disease

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