• Journal of Korean Neurosurgical Society
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• 제57권2호
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• pp.143-146
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• 2015

Chorea-acanthocytosis (ChAc) is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis. Pharmacotherapy for control of involuntary movements has generally been of limited benefit. Deep brain stimulation (DBS) has recently been used for treatment of some refractory cases of ChAc. We report here on the effect of bilateral high-frequency DBS of globus pallidus interna in a patient with ChAc.

• Imaging Science in Dentistry
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• 제30권3호
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• pp.229-234
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• 2000

Cleidocranial dysplasia (previously known as cleidocranial dysostosis) is a well-known, rare and hereditary skeletal disorder characterized by a variety of dental abnormalities and as its name implies, striking involvement of the cranial vaults and clavicles. A 17-year-old female who presented with short stature and prolonged retention of deciduous teeth, subsequent delay in eruption of permanent teeth is described. She could touch her shoulders together at the midline anteriorly. Diagnostic procedures showed hypoplasia of the maxillary and zygomatic bones, open fontanelles and sutures, and aplasia of the clavicles. The paranasal sinuses were absent or underdeveloped. Characteristically, she had near parallel-sided borders in the ascending ramus of the mandible and abnormal-shaped, the slender pointed coronoid process. The zygomatic arches had a downward bend and discontinuity at the zygomaticotemporal suture area. Radiographic and clinical investigations of her cranial and skeletal abnormalities revealed features of cleidocranial dysplasia.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.13-19
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• 2013

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.

• Archives of Plastic Surgery
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• 제36권4호
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• pp.481-484
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• 2009

Purpose: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low height and characteristic facial features. Methods: A 28 years old female patient visited by frontal area depression. The diagnosis was performed by computed tomographic study and radiographic imaging. The patient has widely opened anterior fontanelle, partial fused metopic suture, multiple wormian bone and supernumenary impacted teeth. Under the coronal incision, we exposed depressed frontal area and corrected with Medpor block carving. Results: Postoperatively, frontoparietal skull was aestheticlly improved and she was satisfied with the results. Conclusion: Authors report a case of cleiodocranial dysostosis who has been done correction of abnormal skull shape by Medpor$^{(R)}$ insertion.

• The Journal of Advanced Prosthodontics
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• 제7권2호
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• pp.178-182
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• 2015

Ehlers-Danlos syndrome is an autosomal dominant hereditary disorder of connective tissue, while familial gigantiform cementoma is a condition that usually manifests as multiple radiopaque cementum-like masses throughout the jaws. This case report discusses the oral management and prosthetic rehabilitation of two patients presenting familial gigantiform cementoma with Ehlers-Danlos Syndrome.

• Annals of Coloproctology
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• 제34권6호
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• pp.322-325
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• 2018

Situs inversus is a rare hereditary disorder in which various anomalies have been reported with internal rotation abnormalities. This case involved an 85-year-old woman who had been diagnosed with transverse colon cancer and who underwent reduced-port laparoscopic surgery. All intra-abdominal organs were reversed left to right and right to left. The aberrant midcolic artery was identified during surgery. The total surgery time was 170 minutes, and the patient lost 20 mL of blood. The patient was discharged on the 8th postoperative day without complications.

• Journal of Breast Disease
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• 제6권2호
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• pp.79-83
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• 2018

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.

• Imaging Science in Dentistry
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• 제48권4호
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• pp.283-287
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• 2018

Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long bones. Although some reports have described the dentomaxillofacial characteristics of CMD, including increased density of the jaw, malocclusion, and delayed eruption of the permanent teeth, only a few studies have reported the distinct imaging features of CMD on panoramic radiography. This report presents 2 cases of confirmed CMD patients with an emphasis on panoramic imaging features. The patients' images revealed hyperostosis and sclerosis of the maxilla and mandibular alveolar bone, but there was no change in the mandibular basal bone. In both cases, the mandibular condyle heads exhibited a short clubbed shape with hyperplasia of the coronoid process. For patients without clear otorhinolaryngological symptoms, common radiologic features of CMD could be visualized by routinely-taken panoramic radiographs, and further medical examinations and treatment can be recommended.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• Journal of Yeungnam Medical Science
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• 제35권2호
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• pp.232-235
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• 2018

Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.