Haemodynamic stroke in a rare adult presentation of osteopetrosis.
BMJ Case Rep
; 15(9)2022 Sep 26.
Article
em En
| MEDLINE
| ID: mdl-36162965
ABSTRACT
Osteopetrosis refers to a collection of metabolic bone diseases with impaired osteoclastic activity resulting in abnormally dense and dysplastic bone. Cranial involvement results in severe complications, including compressive nerve palsies, hydrocephalus and tonsillar herniation. Ischaemic stroke is very rarely reported in osteopetrosis, resulting from vascular impingement. We report a young adult woman with CLCN7 (Chloride Voltage-Gated Channel 7) gene-related osteopetrosis and ischaemic stroke resulting from diffuse and focal arterial stenosis and severe myelophthisic anaemia. Acute management included blood transfusions, lay-flat positioning and fever treatment, which resulted in partial recovery of her initial neurological deficits. Our case highlights this very rare stroke syndrome's unique mechanisms and treatment challenges.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteopetrose
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Isquemia Encefálica
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Acidente Vascular Cerebral
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AVC Isquêmico
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article