Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report

Rossini, Zefferino; Castellani, Carlotta; Borsa, Stefano; Carrabba, Giorgio; Locatelli, Marco; Cristofori, Andrea Di

doi:10.1016/j.wneu.2016.01.070

Cited by 4 publications

(4 citation statements)

References 35 publications

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“…33 However, many patients with autosomal dominant OP are only slightly symptomatic and will proceed to adulthood and have a normal life expectancy. 32 Humans may experience headaches and cranial nerve palsies often from cranial nerve foraminal narrowing. 34 OP can cause narrowing of any osseous foramina and so can theoretically affect any cranial nerve in contact with bone at this point.…”

Section: Discussionmentioning

confidence: 99%

“…There are distinct clinical differences in human OP: autosomal dominant OP, autosomal recessive and X linked OP 32 33. Human patients with autosomal recessive and X linked OP have a much more severe phenotype, succumb to the disease and do not proceed to adulthood 33.…”

Section: Discussionmentioning

confidence: 99%

“…Human patients with autosomal recessive and X linked OP have a much more severe phenotype, succumb to the disease and do not proceed to adulthood 33. However, many patients with autosomal dominant OP are only slightly symptomatic and will proceed to adulthood and have a normal life expectancy 32. Humans may experience headaches and cranial nerve palsies often from cranial nerve foraminal narrowing 34.…”

Section: Discussionmentioning

confidence: 99%

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Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia

Fernandes¹,

Jordan²,

Driver³

2019

Vet Record Case Reports

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Osteopetrosis (OP) is a rare genetic condition characterised by osteoclast impairment, deficient bone remodelling and increased bone density. Human patients with OP often present with fractures, osteomyelitis, anaemia, abnormal skeletal development, cranial nerve compression and rarely increased intracranial pressure secondary to craniosynostosis and/or calvarial thickening. A 17-month-old male neutered Cavalier King Charles spaniel was presented for evaluation of occasional painful vocalisation. MR of the brain and the vertebral column revealed a rare association of Chiari-like malformation (CLM) and calvarial thickening due to diffuse OP resulting in severe cerebellar compression and herniation into the foramen magnum. To the authors’ knowledge, this report represents the first described case of calvarial thickening caused by OP in association with CLM and syringomyelia in veterinary medicine.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia

Fernandes¹,

Jordan²,

Driver³

2019

Vet Record Case Reports

View full text Add to dashboard Cite

show abstract

“…Osteopetrosis is a group of rare bone disorders characterized by reduced osteoclastic bone resorption that results in a high bone mass. There are three different subtypes classified on the basis of the pattern of inheritance, severity, age of onset and clinical features: autosomal recessive (or infantile malignant type), mild autosomal recessive (or intermediate type) and autosomal dominant (or adult benign type) [ 33 ]. The autosomal-dominant forms of osteopetrosis have a delayed-onset phenotype and usually are associated with mild symptoms and a benign prognosis.…”

Section: Osteoblastic and Hyperostotic Craniofacial Lesionsmentioning

confidence: 99%

Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay

Paycha

2020

Nuclear Medicine Communications

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99m Tc-bisphophonates bone scan, planar and single-photon emission computed tomography/computed tomography (SPECT/CT) modalities, is a commonly used technique that provides high sensitivity and specificity for detection of osseous metastases. However, besides bone metastases, SPECT/CT provides an accurate evaluation of the localization of the lesions and supplies anatomic information that can be valuable for diagnosis of nonmalignant bone diseases, occasionally disclosed in the skull. Reporting of craniofacial lesions detected by 99m Tc-MDP ( 99m Tc-labeled methylene diphosphonate) bone scintigraphy and SPECT/CT in the literature is limited. The aim of this pictorial review is to present the findings detected by 99m Tc-MDP bone scintigraphy and SPECT/CT including cases under two broad categories: osteoblastic and hyperostosis craniofacial lesions.

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Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

et al. 2017

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Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated.

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Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report

Cited by 4 publications

References 35 publications

Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia

Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia

Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

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