• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.2
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• pp.161-165
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• 2012

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease. We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care. Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome.

• The Journal of the Korean bone and joint tumor society
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• v.8 no.2
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• pp.63-67
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• 2002

Myositis ossificans progressiva, also known as 'fibrodysplasia ossificans progressiva' is a rare disorder, most probably inherited as a mendelian dominant trait with irregular penetrance. It is characterized by congenital malformations of the great toes and progressive edema, calcification and ossification of the fasciae, aponeurosis, ligaments, tendons, and connective tissue in interstitial tissues of skeletal muscle. The basic defect is in the connective tissue, whereas the skeletal muscle remains fundamentally normal. We report two cases of a brother and sister whose the disorder is involved in a same family.

• Sleep Medicine and Psychophysiology
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• v.27 no.2
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• pp.77-81
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• 2020

Obstructive sleep apnea (OSA) is a sleep-related breathing disorder in which narrowing and obstruction of the upper airway lead to frequent arousal and decreased arterial oxygenation during sleep. OSA is more common in children with genetic disorders like achondroplasia compared to children without genetic disorders. Achondroplasia is genetic disorder characterized by hypoplasia of the facial bone and skull base with foramen magnum stenosis, resulting in exceedingly high frequency of OSA. The authors present a case of a patient with achondroplasia diagnosed with severe OSA through polysomnography after adenectomy showed little therapeutic effect and who was treated with continuous positive airway pressure.

• Clinics in Shoulder and Elbow
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• v.15 no.2
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• pp.138-142
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• 2012

Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder that results in villous hyperplasia and nodule formation in the synovium, tendon sheath and bursa. That most commonly affects the knee and the hip joint in adult. PVNS of the hand, the wrist, the shoulder and the elbow is rare and that of the elbow in children is particularly rarer. An eight-year-old boy had his left elbow pain and a lesion like benign bone tumor in the left fossa olecrani on plain x-ray. During the operation, abnormal synovial hyperplasia in his left elbow joint led us to diagnose PVNS. Therefore, open curettage of the lesion and radical synovectomy was performed. The specimen of the synovectomized tissue revealed PVNS. The left elbow pain subsided after the operation and the child restored a full range of motion of his left elbow. We reported this rare case of PVNS in a child's elbow joint mimicking the bone tumor together with a review of the literature.

• Journal of Oral Medicine and Pain
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• v.37 no.2
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• pp.125-133
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• 2012

TMJ Osteoarthritis is a degenerative disease caused by overload on joint tissue, and often accompany with local tenderness on the joint, crepitus by mandibular movement, restriction of mandibular movement, and anterior openbite. In general, panoramic radiography, TMJ panoramic radiography, and transcranial radiography are conducted to diagnose osteoarthritis after clinical examination, however, these radiographic evaluations are limited in detecting minute bony changes of early pathologic lesion. The aim of this pilot study was to evaluate the limitation and usefulness of several TMJ imaging techniques, so we compare the findings from clinical examination, plain film radiographs, tomograph, and bone scan from 81 patients with temporomandibular joint disorder. The proportion of patients showing same findings in plain film radiographs, TMJ tomograph, and bone scan was high, however, it is desirable that clinician should conduct phased imaging examinations according to the clinical findings due to the possibilities of false negative findings in diagnosis of osteoarthritis.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.1
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• pp.151-156
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• 1999

Self-injurious behavior is defined as deliberate harm to one's own body without suicidal intent. It usually occurs as head banging or hitting, skin cutting, or finger biting and includes ocular, genital and oral self-mutilation. Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence of hypoxanthin-guanine phosphoribosyl transferase(HPRT) activity. Clinical presentation is characterized by mental retardation, chorea, athetosis, hyperuricemia, uricosuria and self-mutilating behavior. In these patients, the most typical feature is loss of tissue from biting themselves, even though they are not insensitive to pain. The dental management of self-mutilation includes treatment with appliances such as soft mouthguard or lip bumper, extraction of all the teeth, and orthognathic surgery. We report a 25-month-old boy who was a known case of Lesch-Nyhan syndrome and presented with severe self-mutilation wound on his lower lip. Vital pulpectomy and coronal resection was done as a more conservative approach than extracting all primary anterior teeth. Due to maintaining the root portion of the teeth in the bone, it is expected that the normal growth of the alveolar bone will be achieved.

• Pediatric Infection and Vaccine
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• v.23 no.1
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• pp.72-76
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• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.565-569
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• 2006

Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS are at risk of cancer. Reported cancers in children with RTS include : basal cell carcinoma, squamous cell carcinoma of the skin and osteosarcoma of bone. We report an 11 year-old boy, who presented to our institution with poikilodermatous skin change with telangiectasia and hyperpigmentation, absence of radius and thumb, and the development of osteosarcoma of the left tibia. The patient is now receiving supportive care and is receiving maintenance chemotherapy after surgery for osteosarcoma.

• The Korean Journal of Pain
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• v.5 no.1
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• pp.117-120
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• 1992

Non traumatic aseptic necrosis of the head of the femur is well documented with respect to its clinical roentgenographic and pathological aspect, but not with respect to etiology. A number of reports have associated various diseases and conditions with necrosis of the femoral head. Prominent among these are alcoholism, steroid therapy and hemostatic disorder. The increased incidence of avascular necrosis of bone associated with long-term corticosteroid therapy has aroused much interest. The pathogenesis of cortisone-induced avascular necrosis is as yet unproved. But cortisone-induced fatty liver with hyperlipidemia, leading to systemic embolization of fat and avascular necrosis of bone has much experimental support. We present a case of bilateral avascular necrosis of the femur head following several epidural steroid injections in a 30 year old male patient who had low back pain with radiation to both legs for 1 year and who had Cushinoid appearance for several months. One week later, he had a total replacement of both hip operation.