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Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.

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Title: Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
Authors: Bono, Francesco (AUTHOR), Rapisarda, Laura (AUTHOR), Bombardieri, Caterina (AUTHOR), Gagliardi, Monica (AUTHOR), Procopio, Radha (AUTHOR), Demonte, Giulio (AUTHOR), Tosto, Federico (AUTHOR), Bruno, Pietro A. (AUTHOR), Gambardella, Antonio (AUTHOR), Annesi, Grazia (AUTHOR)
Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1393-1399. 7p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart.
Subjects: Disease vectors, Sleep interruptions, Sleep apnea syndromes, Genetic testing, Exostosis, Intracranial hypertension, Vein diseases
Geographic Terms: Italy
Abstract: Background: Hereditary cranial hyperostosis is a rare disease never described in Italy, so the neurological manifestations in patients and carriers of the disease have been little studied. Methods: We describe the neurological and neuroimaging features of patients and carriers of the gene from a large Italian family with sclerosteosis. Results: In this family, genetic testing detected the homozygous p.Gln24X (c.70C > T) mutation of the SOST gene in the proband and a heterozygous mutation in 9 siblings. In homozygous adults, severe craniofacial hyperostosis was manifested by cranial neuropathy in childhood, chronic headache secondary to intracranial hypertension, and an obstructive sleep apnea syndrome in adults. In one of the adult patients, there was a compressible subcutaneous swelling in the occipital region caused by transosseous intracranial-extracranial occipital venous drainage, a compensation mechanism of obstructed venous drainage secondary to cranial hyperostosis. Mild cranial hyperostosis causing frequent headache and snoring was evident in the nine heterozygous subjects. Conclusions: Multiple cranial neuropathies and headache in children, while severe chronic headache and sleep disturbances in adults, are the neurological manifestations of the first Italian family with osteosclerosis. It is reasonable to extend neurological and neuroimaging evaluation to gene carriers as well. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2023, Vol. 44 Issue 4, p1393-1399. 7p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart.
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  Data: <searchLink fieldCode="DE" term="%22Disease+vectors%22">Disease vectors</searchLink><br /><searchLink fieldCode="DE" term="%22Sleep+interruptions%22">Sleep interruptions</searchLink><br /><searchLink fieldCode="DE" term="%22Sleep+apnea+syndromes%22">Sleep apnea syndromes</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Exostosis%22">Exostosis</searchLink><br /><searchLink fieldCode="DE" term="%22Intracranial+hypertension%22">Intracranial hypertension</searchLink><br /><searchLink fieldCode="DE" term="%22Vein+diseases%22">Vein diseases</searchLink>
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  Data: Background: Hereditary cranial hyperostosis is a rare disease never described in Italy, so the neurological manifestations in patients and carriers of the disease have been little studied. Methods: We describe the neurological and neuroimaging features of patients and carriers of the gene from a large Italian family with sclerosteosis. Results: In this family, genetic testing detected the homozygous p.Gln24X (c.70C > T) mutation of the SOST gene in the proband and a heterozygous mutation in 9 siblings. In homozygous adults, severe craniofacial hyperostosis was manifested by cranial neuropathy in childhood, chronic headache secondary to intracranial hypertension, and an obstructive sleep apnea syndrome in adults. In one of the adult patients, there was a compressible subcutaneous swelling in the occipital region caused by transosseous intracranial-extracranial occipital venous drainage, a compensation mechanism of obstructed venous drainage secondary to cranial hyperostosis. Mild cranial hyperostosis causing frequent headache and snoring was evident in the nine heterozygous subjects. Conclusions: Multiple cranial neuropathies and headache in children, while severe chronic headache and sleep disturbances in adults, are the neurological manifestations of the first Italian family with osteosclerosis. It is reasonable to extend neurological and neuroimaging evaluation to gene carriers as well. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-022-06541-7
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        Text: English
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              Text: Apr2023
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