• Journal of Chest Surgery
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• 제13권2호
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• pp.149-153
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• 1980

Von Recklinghausen's disease is a systemic hereditary disorder with varied manifestations in bone, soft tissue, nervous system, and skin, the most common of which is the developement of multiple, small, cutaneous tumors with a characteristic histologic picture. Tumors develop after birth and before puberty in most cases, and they increase in number until old age. Malignant neoplasms that complicate multiple neurofibromatosis include gliomas of the optic nerve, astrocytomaas of the cerebral and cerebellar hemispheres, and sarcomas of peripheral nerves (femoral, tibial and intercostal nerves) and somatic soft tissues. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochrocytoma, meningocele or, less commonly parenchymal pulmonary neurofibromas. Author have experienced 2 cases of Von Recklinghausen's disease. One case developed a hyge malignant Schwannoma in the parietal pleura of left 4th intercostal space and multiple benign neurofibromas (two in intercostal spacees and one in the neck) , and the other has several episodes of pneumothorax resulting from diffuse cystic lung disease which required closed thoracotomy drainage.

• Journal of Korean Neurosurgical Society
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• 제50권3호
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• pp.256-259
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• 2011

We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at postoperative third day, without any unusual predictive abnormal findings the patient's pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The possibility of unpredictable postoperative ischemic complication should be kept in mind.

• 한국전문물리치료학회지
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• 제22권3호
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

• Archives of Plastic Surgery
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• 제44권2호
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• pp.162-165
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• 2017

Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available. Patients can be treated symptomatically by surgical removal of painful osteochondromas. Unfortunately, some patients still suffer from severe pain, even after surgery. We report on a case concerning a 48-year-old woman with a history of MO who presented with persistent pain after surgical removal of a symptomatic osteochondroma of the left scapula and multiple symptomatic osteochondromas of the left foot and trochanteric region. Several interventions to reduce the pain did not have any lasting effect. Subsequently, she was treated with autologous fat grafting (AFG). After each session she was pain-free for at least one year and reported only partial recurrence of the pain. This is the first case report describing AFG for the treatment of pain after both surgical removal of an osteochondroma and symptomatic osteochondromas in a patient suffering MO with promising results. The treatment is more effective and clearly continues to remain active longer than injection therapy or pain medication. Future studies are necessary to confirm our results.

• BMB Reports
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• 제46권2호
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• pp.73-79
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• 2013

Polycystic kidney disease (PKD) is a common hereditary disorder which is characterized by fluid-filled cysts in the kidney. Mutation in either PKD1, encoding polycystin-1 (PC1), or PKD2, encoding polycystin-2 (PC2), are causative genes of PKD. Recent studies indicate that renal cilia, known as mechanosensors, detecting flow stimulation through renal tubules, have a critical function in maintaining homeostasis of renal epithelial cells. Because most proteins related to PKD are localized to renal cilia or have a function in ciliogenesis. PC1/PC2 heterodimer is localized to the cilia, playing a role in calcium channels. Also, disruptions of ciliary proteins, except for PC1 and PC2, could be involved in the induction of polycystic kidney disease. Based on these findings, various PKD mice models were produced to understand the roles of primary cilia defects in renal cyst formation. In this review, we will describe the general role of cilia in renal epithelial cells, and the relationship between ciliary defects and PKD. We also discuss mouse models of PKD related to ciliary defects based on recent studies.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.21-25
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• 2018

Fabry disease is a hereditary lysosomal storage disorder caused by the reduction or absence of lysosomal enzyme alpha-galactosidase A and the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3), in various organs, including the heart. The prevention of cardiac involvement in Fabry disease can only be achieved by enzyme replacement therapy (ERT), and the method of assessing the efficacy of ERT should be confirmed. Changes in the electrocardiogram, such as the shortening of PQ interval, prolongation of QTc and repolarization abnormalities as well as left ventricular hypertrophy in voltage criteria, can be used to identify Fabry disease patients; however, the usefulness of electrocardiograms for evaluating the efficacy of ERT is limited. The assessment of left ventricular hypertrophy using echocardiography has been established to evaluate the efficacy of ERT during long-term period. A new technique involving speckled tracking method might be useful for detecting early cardiac dysfunction and identifying the effect of ERT for a relatively short period. The estimation of left ventricular hypertrophy using cardiac magnetic resonance (CMR) is also useful for assessing the efficacy of ERT. Identifying late gadolinium enhancement in CMR may affect the effectiveness of ERT, and the new technique of T1 mapping might be useful for monitoring the accumulation of Gb3 during ERT. Histopathology in cardiac biopsy specimens is another potentially useful method for identifying the accumulation of GB3; however, the use of histopathology to evaluate of the efficacy of ERT is limited because of the invasive nature of an endomyocardial biopsy.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권1호
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• pp.61-64
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• 2017

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

• 한방안이비인후피부과학회지
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• 제15권1호
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• pp.356-383
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• 2002

This study attempted to study SLE oriental-western medically. As a result, the following conclusion was drawn 1. SLE is autoimmune disease to appear systemic pathology in the connective tissue, oriental medically correspond with numbness, yangdok(陽毒), yangdokbalban(陽毒發斑), fatigue, flank pain, phlegm, chest pain, asthma and cough, edema. 2. The cause of SLE is supposed by hereditary reason, ultraviolet exposure, medication, immune functional disorder, oriental medically is supposed by congenital in suffiency, sunlight exposure, pregnancy, menstruation, over wark, mental stimulus etc. 3. The oriental mechanisms of SLE were flursh of fever, yang defiency of spleen and kidney, defiency of yin and flourishing fire, obstruction of qi and stagnancy of blood, defiency qi and yin, defiency heart and spleen, liver stasis. 4. The treatments method of SLE were cooling blood and defending yin·clear away heat and detoxification, warming kidney and descending yang·establishing spleen and flowing water, nourishing yin and cooling blood, relaxation of liver and circulatin of qi·activating blood and removing stagnant blood,activating blood and promoting meridian. 5. the highest frequent prescription of SLE was jibakjihwanghwan(地柏地黃丸), in decending order segakjihwangtanggagam(犀角地黃湯加減), jinmutanggagam(眞武湯加減), soyosangagam(逍遙散加減), saengmakyingagam(生脈飮加減), daeboyinhwangagam(大補陰丸加減), yukmijihwanghwan(六味地黃丸), woogwihwangagam(右歸丸加減), kueibitang(歸脾湯), segakjihwangtanghaphwabantanggagam(犀角地黃湯合化斑湯加減), chengwonpaedokyingagam(淸溫敗毒飮加減), youngyanggudengyin(羚羊鉤藤飮).

• Journal of Korean Neurosurgical Society
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• 제59권1호
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• pp.65-68
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• 2016

Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder occurs due to the absence of homogentisic acid oxidase and leading to various systemic abnormalities related to deposition of homogentisic acid pigmentation (ochronotic pigmentation). The present case reports the clinical features, radiographic findings, treatments and results of a cervical spondylotic myelopathy woman patient due to the ochronotic arthropathy of the cervical spine. The patient aged 62 years was presented with gait disturbance and hand clumsiness. Physical examination, X-rays, computed tomography and lab results of the urine sample confirmed the presence of ochronosis with the involvement of the cervical spine. The patient underwent a modified cervical laminoplasty due to multi-segment spinal cord compression. The postoperative follow-up showed a good functional outcome with patient satisfaction. The present study concludes the conditions and important diagnostic and surgical aspects of a patient. It is necessary to identify the condition clinically and if cord compression is observed, appropriate surgical interventions needs to be instituted.