• Journal of Korean Clinical Nursing Research
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• v.14 no.3
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• pp.153-163
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• 2008

Purpose: The purpose of this research, using descriptive correlation design was to identify the extent to which the mothers having children with rare genetic metabolic diseases(MPS, PWS) have parenting stress and guilt feeling. Method: This study used PSI /SF(Abidin, 1995) and Guilt Index as devised herein. From 156 mothers, data were collected from February to July 2006, using self-administered questionnaires. This study received the approval from IRB at S Hospital (IRB File No: 2006-02-014). Data were analyzed with descriptive statistics, t-test, ANOVA, and correlation. Results: Mothers felt very high level of parenting stress and sense of guilt. Parenting stress was related positively to guilt feeling. Conclusion: These findings could help understand the families of children with rare genetic metabolic diseases and those provide basic information in developing effective counseling and education programs for relief of parenting stress and guilt feeling. This study would be significant in the fact that it is the first research, targeting on the families of children with rare genetic metabolic diseases in Korea.

• Journal of Korean Neurosurgical Society
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• v.49 no.4
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• pp.231-233
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• 2011

Chronic spinal epidural hematoma related to Kummell's disease is extremely rare. An 82-year-old woman who had been managed conservatively for seven weeks with the diagnosis of a multi-level osteoporotic compression fracture was transferred to our institute. Lumbar spine magnetic resonance images revealed vertebral body collapse with the formation of a cavitary lesion at L1, and a chronic spinal epidural hematoma extending from L1 to L3. Because of intractable back pain, a percutaneous vertebroplasty was performed. The pain improved dramatically and follow-up magnetic resonance imaging obtained three days after the procedure showed a nearly complete resolution of the hematoma. Here, we present the rare case of a chronic spinal epidural hematoma associated with Kummell's disease and discuss the possible mechanism.

• Investigative Magnetic Resonance Imaging
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• v.21 no.4
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• pp.273-275
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• 2017

Thiemann's disease is a form of idiopathic avascular necrosis of the immature epiphyses of the phalanges of the fingers and toes. Few cases of Thiemann's disease have been reported because the disease is rare and difficult to diagnose. To the best of our knowledge, magnetic resonance imaging (MRI) findings of Thiemann's disease have not been reported. Here, we report a case of Thiemann's disease diagnosed by typical clinical symptoms and characteristic MRI findings before radiologic bony abnormalities were apparent.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.8-11
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• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

• Journal of Yeungnam Medical Science
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• v.39 no.1
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• pp.72-76
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• 2022

Enteritis cystica profunda (ECP), a rare and benign condition, is defined as the displacement of the glandular epithelium into the submucosa and more profound layers of the small intestinal wall leading to the formation of mucin-filled cystic spaces. ECP frequently occurs in the ileum or jejunum and is associated with diseases such as Crohn disease and Peutz-Jeghers syndrome. ECP also develops in the absence of known pathology. ECP in the duodenum is very rare and mostly occurs without associated conditions. In this report, we present a rare case of ECP without an associated disease, in the second portion of the duodenum distal to the ampulla of Vater and coexisting with lipoma within the polypoid lesion.

• Journal of Chest Surgery
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• v.26 no.4
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• pp.316-319
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• 1993

Although Behcet`s disease, characterized by oro-genital ulceration and ocular abnormalities, is rare and unfamiliar disease to thoracic surgeon, one must remember that it can cause serious complications on the vascular system such as thrombophlebitis,thrombotic obstuction and aneurysm.We report a case of multiple arterial aneurysms with Behcet`s disease. This 31 year-old female had five times surgical interventions during short period[19 months]. 6 aneurysms were developed in this case, 3 were spontaneous aneurysms, 2 were anastomotic aneurysms and 1 was false aneurysm due to arterial puncture.

• Childhood Kidney Diseases
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• v.25 no.1
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• pp.40-43
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• 2021

Enuresis is intermittent urinary incontinence during sleep at night in children aged 5 years or older. The main pathophysiology of enuresis involves nocturnal polyuria, abnormal sleep arousal, and low functional bladder capacity. In rare cases, enuresis is an early symptom of endocrine disorders such as diabetes or thyroid disorders. Herein, we report a case of a 12-year-old girl with enuresis as a rare initial presentation of Graves' disease. She complained of nocturnal enuresis from a month before visiting our clinic. She also complained of urinary frequency, headache, and weight loss. On physical examination, she had tachycardia, intention tremors, and a diffuse goiter on her anterior neck with bruit on auscultation. Her thyroid function test results revealed hyperthyroidism, and Graves' disease was diagnosed as the thyroid stimulating hormone receptor autoantibody was positive. After treatment for Graves' disease with methimazole, symptoms of enuresis resolved within 2 weeks as she became clinically and biochemically euthyroid. In children with secondary enuresis, Graves' disease should be considered as a differential diagnosis, and signs of hyperthyroidism should be checked for carefully.

• Childhood Kidney Diseases
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• v.28 no.1
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• pp.8-15
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• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• Archives of Plastic Surgery
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• v.44 no.5
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• pp.439-443
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• 2017

Kimura disease is a rare idiopathic chronic inflammatory disorder. It typically presents in the head and neck area, whereas bilateral involvement is unusual. Its diagnosis requires it to be differentiated from other inflammatory diseases and from head and neck tumors. Treatment methods include conservative management, steroid administration, radiotherapy, and surgery; however, no single treatment of choice has been established. Herein, we report an unusual presentation of Kimura disease with bilateral parotid involvement. This case was treated by surgical excision.

• Journal of Korean Neurosurgical Society
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• v.54 no.5
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• pp.415-419
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• 2013

Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratentorial hemangioblastoma associated with von Hippel-Lindau disease. Patients with von Hippel-Lindau syndrome are at risk for developing multiple hemangioblastomas, with new tumor formation and growth and possible meningeal infiltration. Regular lifelong follow-up in at-risk patients is recommended and should include the differential diagnosis of dural-based tumors such as angioblastic meningioma and metastatic renal cell carcinoma.