WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features

A five-year-old boy presented with left tibial swelling; there was a typical radiological feature of osteofibrous dysplasia. He was observed until the age of 14 years; there was development of aggressive radiological features. Biopsy revealed chondroblastic osteosarcoma. It was excised and the histology revealed chondroblastic osteosarcoma. A small lesion distal to the main tumour revealed adamantinoma within a background of feature of osteofibrous dysplasia. Proximally, feature of osteofibrous dysplasia was identified focally. The finding of adamantinoma over the distal part of the lesion supports that feature of osteofibrous dysplasia may be a precursor of adamantinoma. They may be a spectrum of diseases with multistep neoplastic transformation. The osteosarcoma may be a result of de-differentiation from adamantinoma. This case is remarkable as the patient was only 14 years old and the tumour showed typical features of osteosarcoma, with feature of osteofibrous dysplasia and adamantinoma found in the same specimen. Feature of osteofibrous dysplasia may be a precursor of adamantinoma, and adamantinoma may dedifferentiate into osteosarcoma.

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Dental Findings in a Child with Osteopathia Striata with Cranial Sclerosis (OS-CS): A Case Report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.37.4.a681402hp258m8u2 ◽

2013 ◽

Vol 37 (4) ◽

pp. 411-413

Author(s):

M Nishiguchi ◽

K Satoh ◽

Y Kamasaki ◽

T Hoshino ◽

T Fujiwara

Keyword(s):

Case Report ◽

Early Stage ◽

Permanent Teeth ◽

Dental Anomalies ◽

Osteopathia Striata ◽

Dental Management ◽

Cranial Sclerosis ◽

Planning Treatment ◽

Delayed Eruption ◽

Oral Abnormalities

The dental management of an 8-year-old girl with osteopathia striata with cranial sclerosis (OS-CS) is described. The girl presented with various oral abnormalities. The aim of this case report was to describe in detail the dental findings in a patient with OC-CS and the precautions to be taken when planning treatment. In the present case, many dental anomalies, such as delayed eruption of the permanent teeth, obliteration of the dental pulp, short roots, fused roots and taurodontism, were detected. In patients with OS-CS, routine dental care from an early stage is recommended to manage this anomaly properly.

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Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report

Pediatric Radiology ◽

10.1007/s002470100486 ◽

2001 ◽

Vol 31 (9) ◽

pp. 659-662 ◽

Cited By ~ 6

Author(s):

T. Kondoh ◽

Muneyoshi Yoshinaga ◽

Tadashi Matsumoto ◽

Toshimitsu Takayanagi ◽

Masataka Uetani ◽

...

Keyword(s):

Case Report ◽

Cervical Kyphosis ◽

Osteopathia Striata ◽

Cranial Sclerosis

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Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma

Acta Neurochirurgica ◽

10.1007/s00701-016-2794-4 ◽

2016 ◽

Vol 158 (6) ◽

pp. 1115-1120 ◽

Cited By ~ 4

Author(s):

Gennadiy A. Katsevman ◽

Ryan C. Turner ◽

Brandon P. Lucke-Wold ◽

Cara L. Sedney ◽

Sanjay Bhatia

Keyword(s):

Case Report ◽

Spinal Fusion ◽

Review Of The Literature ◽

Osteopathia Striata ◽

Cranial Sclerosis

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Fahr’s Disease Presenting with Dementia at Onset: A Case Report and Literature Review

Behavioural Neurology ◽

10.1155/2014/750975 ◽

2014 ◽

Vol 2014 ◽

pp. 1-3 ◽

Cited By ~ 6

Author(s):

Rocco Salvatore Calabrò ◽

Letteria Spadaro ◽

Angela Marra ◽

Placido Bramanti

Keyword(s):

Case Report ◽

Basal Ganglia ◽

Literature Review ◽

Movement Disorder ◽

Rare Case ◽

Centrum Semiovale ◽

Fahr’S Disease ◽

Radiological Features ◽

Fahr's Disease ◽

Behavioral Abnormalities

Fahr’s disease (FD) is characterized by sporadic or familiar idiopathic calcification of the basal ganglia, dentate nuclei of the cerebellum, and centrum semiovale, mainly presenting with movement disorder, dementia, and behavioral abnormalities. We described a rare case of Fahr’s disease presenting at onset only with behavioral and neuropsychological alterations, whose diagnosis was supposed only after a brain CT, which showed extensive bilateral calcifications in the dentate nuclei of the cerebellum and basal ganglia. Since the onset of Fahr’s disease may be a dysexecutive syndrome with behavioral abnormalities, the clinical and radiological features are really important to do the appropriate diagnosis.

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