• Journal of Korean Neurosurgical Society
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• 제47권6호
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• pp.458-460
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• 2010

Langerhans cell histiocytosis (LCH), a disorder of the phagocytic system, is a rare condition. Moreover, spinal involvement causing myelopathy is even rare and unusual. Here, we report a case of atypical LCH causing myelopathy, which was subsequently treated by corpectemy and fusion. A 5-year-old boy presented with 3 weeks of severe neck pain and limited neck movement accompanying right arm motor weakness. CT scans revealed destruction of C7 body and magnetic resonance imaging showed a tumoral process at C7 with cord compression. Interbody fusion using cervical mesh packed by autologus iliac bone was performed. Pathological examination confirmed the diagnosis of LCH. After the surgery, the boy recovered from radiating pain and motor weakness of right arm. Despite the rarity of the LCH in the cervical spine, it is necessary to maintain our awareness of this condition. When neurologic deficits are present, operative treatment should be considered.

• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.1018-1021
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• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• 대한치과교정학회지
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• 제45권6호
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• pp.333-340
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• 2015

Condylar hyperplasia (CH) is a rare disorder characterized by excessive bone growth that almost always presents unilaterally, resulting in facial asymmetry. Classification of the different types of CH can differ depending on the authors. Correct diagnosis is critical in determining the proper treatments and timing. This paper is a review of the recent literature on the epidemiology, etiology, diagnosis, classification, and surgical treatments of CH.

• 대한족부족관절학회지
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• 제25권1호
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• pp.10-16
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• 2021

Evidence-based papers on the treatment of some chronic tendinopathy or ligament lesions using an injection in foot and ankle disorders have been reported, but there are few reports on the treatment of acute ankle ligament injury. On the other hand, some papers have reported a faster return to play for injection therapy that combines RICE (Rest, Icing, Compression, and Elevation) treatment and rehabilitation. Injection therapy can be used as an additional treatment for ankle ligament injury. Rather than having narrow-minded thinking about these treatments, it is important to make efforts to verify the safety and precautions of treatment and recognize them as a category of normal treatment. Continuous analysis and monitoring of these treatments can satisfy patients whose needs are changing rapidly.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.16-23
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• 2021

GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous system degeneration where ganglioside synthesis is highest. The accumulation of keratan sulfate is the suspected cause of the bone findings in Morquio B disease. GM1 gangliosidosis is clinically characterized by a neurodegenerative disorder associated with dysostosis multiplex, while Morquio B disease is characterized by severe skeletal manifestations and the preservation of intelligence. Morquio B disease and GM1 gangliosidosis may be on a continuum of skeletal involvement. There is currently no effective treatment for GLB1-related disorders. Recently, multiple interventions have been developed and there are several ongoing clinical trials.

• Natural Product Sciences
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• 제25권1호
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• pp.59-63
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• 2019

Hematopoiesis has a pivotal role in the maintenance of body homeostasis. Ironically, several hematological disorder caused by chemicals, drugs, and other environmental factors lead to severe bone marrow failure. Current treatments like stem cell transplantation and immunosuppression remain ineffective to ameliorate this diseases. Therefore, a newtreatment to overcome this entity is necessary, one of them by promoting the usage of medicinal plants. Thus, this study aimed to evaluate the hematopoiesis potency of S. javanica berries and leaves extracts in chloramphenicol (CMP)-induced aplastic anemia mice model. In this present study, several types of blood progenitor cell such as $TER-119^+VLA-4^+$ erythrocytes lineage, $Gr-1^+$ granulocytes, and $B220^+$ B-cell progenitor cells were evaluated by flow cytometry analysis. Accordingly, we revealed that S. javanica berries and leaves extracts significantly promoted $TER-119^+VLA-4^+$ erythrocytes lineage and $Gr-1^+$ granulocytes after exposed by CMP. Thus, these results suggested that S. javanica berries and leaves extracts might have hematopoiesis activity in CMP-induced aplastic anemia mice model.

• 대한치과의사협회지
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• 제56권12호
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• pp.707-713
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• 2018

Multiple myeloma is a lymphohematopoietic disorder leading to abnormal hemostasis and significant pathologic changes of skeletal system. It induces multiple circular or oval-shaped radiolucent lesions which are characterized by 'punched-out appearance'. The surrounding trabecular bone normally shows no significant sclerotic reaction. Multiple myeloma patients may visit dental clinics, without perception of the disease themselves, due to discomfort from edema of orofacial region, oral ulcers, tooth mobility, pain or gingival bleeding. Multiple myeloma is susceptible to various complications, including delayed hemostasis and infection, which could occur during routine dental treatment such as periodontal and surgical operation. For radiographic diagnosis of multiple myeloma, common radiologic features of this tumor could be visualized by panoramic radiographs in the dental clinics, and further medical examinations and treatment can be recommended as a result.

• Annals of Clinical Neurophysiology
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• 제24권2호
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• pp.79-83
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• 2022

Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma. Although progressive lymphadenopathy is a typical feature, extranodal involvement may also occur, including the gastrointestinal tract, skin, bone, thyroid, and testes. Central nervous system invasion is rare, so differentiating it from diseases such as inflammatory demyelinating disorder or infection is essential. DLBCL is therefore a challenge to diagnose, especially when the first findings are neurological symptoms. We report an unusual case of DLBCL that presented as transverse myelitis.

• Childhood Kidney Diseases
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• 제25권1호
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• pp.1-7
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• 2021

Chronic kidney disease (CKD) in children is associated with various complications, including poor growth and development, mineral bone disorder, cardiovascular disease, kidney failure, and mortality. Slowing down the progression of CKD is important since CKD is often not curable. Prospective cohort studies have been conducted to understand the progression and outcomes of CKD in children, and these studies have identified non-modifiable and modifiable risk factors. Recognition of known risk factors and early intervention are important to delay the progression of kidney function decline in children.

• Pediatric Infection and Vaccine
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• 제31권1호
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• pp.122-129
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• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.