• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• Journal of Korean Neurosurgical Society
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• 제42권1호
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• pp.49-52
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• 2007

The authors report a unique case of unilateral Moyamoya disease with a rare combination of arteriovenous malformation (AVM) who presented with intracerebral hemorrhage (ICH). A 50-year-old man suffered from sudden onset of mental deterioration and right hemiparesis. Brain computed tomography (CT) showed intracerebral hemorrhage on left thalamus. Brain CT angiography and cerebral digital subtraction angiography (DSA) revealed AVM combined with unilateral moyamoya disease involving left middle cerebral artery (MCA) and choroid plexus in left lateral ventricle. Intraventricular hemorrhage and hydrocephalus were managed conservatively. A rare case of unilateral Moyamoya disease accompanied by a cerebral arteriovenous malformation is described and discussed with review of pertinent literature.

• 대한수의학회지
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• 제60권2호
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• pp.85-88
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• 2020

A 12-month-old domestic rabbit died suddenly without specific clinical signs. Gross examination revealed irregular yellowish hepatic nodules with pus in the submandibular muscles, lungs, uterus, and small intestines. Histopathological examination of the liver showed granulomatous inflammation with acid-fast-positive bacteria. Mycobacterium bovis SB1040 was identified by polymerase chain reaction and spoligotyping, and Pasteurella multocida was isolated from the multiple lesions. This report demonstrates the pathological features of rare bovine tuberculosis (bTB) in a domestic rabbit, the first case in the Republic of Korea. To ensure public safety, we recommend routine monitoring of rabbits to control the incidence of bTB.

• Genomics & Informatics
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• 제14권2호
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• pp.42-45
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• 2016

Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권1호
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• pp.2-4
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• 2015

Though the rate of incidence of each rare disease, including mucopolysaccharidosis (MPS), is low, this is not the case if they are taken as a whole. Rare diseases often have genetic causes and vary in type. However, the signs and symptoms vary greatly by disease, making it difficult to make accurate diagnoses and conduct necessary research, which is why we believe it is a field that deserves more attention and research. It is important to establish an infrastructure of experts in each country and promote cooperation within the Asia-Pacific region in order to improve specialist training and communication. Given the need for a system of cooperation, the Asia Pacific MPS Network (APMN) was established by several MPS experts in South Korea, Japan, and Taiwan in January 2013. Thereafter, the Asia Pacific MPS Registry (APMR), an electronic remote data system, was established by the APMN. Then, the Association for Research of MPS & Rare Diseases (ARMRD), an academic society that supports research on MPS and other rare diseases, was established by President Dong-Kyu Jin in April in 2015. The main task of the ARMRD is to support APMN-related work. The ARMRD published a uniform guideline that reflects the characteristics and circumstances of local patients through the Korean MPS Expert Council. Now, the APMN, APMR, and the annual Korean MPS Symposium are supported by ARMRD. Organizations like the APMN and APMR are necessary because international cooperation and collaboration are needed to conduct clinical trials on those diseases. ARMRD members hope to encourage the interest of experts and researchers of MPS & rare diseases as well as active participation in the research and treatment of patients suffering from rare diseases, including MPS, to ultimately improve the quality of life of the patients as well as their families.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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• pp.365-368
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• 2018

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.81-85
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• 2018

Amyloidosis is a rare disease that results from the deposition of extracellular protein in various body tissues, causing progressive organ dysfunction. Secondary renal amyloidosis is a rare but serious complication of chronic inflammatory bowel disease, particularly in patients with Crohn's disease or ulcerative colitis. We report a case of secondary renal amyloidosis in a pediatric patient who reported a 16-year history of "very early onset inflammatory bowel disease". Intensive treatment including repeated infliximab infusions improved clinical parameters of inflammatory bowel disease, although renal dysfunction showed progression. Amyloidosis should be considered in patients with IBD, particularly if they suffered disease progression.

• Annals of Clinical Neurophysiology
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• 제25권1호
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• pp.38-40
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• 2023

Acute pulmonary embolism (PE) is a life-threatening disease that manifests with cardiorespiratory symptoms. Syncope can be a rare, but warning sign of PE. We report a case of a 49-year-old male diagnosed with PE who presented with recurrent syncope prior to typical cardiorespiratory symptoms. His computed tomography pulmonary angiogram revealed bilateral PE. Syncope can be a rare clinical symptom of PE, but considering lethality of the disease, a differential diagnosis of PE should be considered in patients with recurrent syncope.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권2호
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• pp.134-140
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• 2018

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.