The clinical signs of acquired hypothyroidism are usually manifested insidiously over several months to years. The incidence increases after 6 years of age and peaks at 11 to 18 years of age. The clinical symptoms and signs are fatigue, constipation, decreased growth velocity and delayed bone age, compromised intellectual performance, obesity, myxedema, hyperlipidemia, peripheral neuropathy and delayed or precocious puberty. Two children were referred to our hospital for the evaluation of severe obesity and short stature. During the evaluation we found they also had hyperlipidemia, cardiomegaly with or without pericardial effusion. Thyroid function test revealed decreased serum thyroid hormone levels with positive anti- microsome and anti-thyroglobulin antibodies consistent with long-standing acquired hypothyroidism. After the supplement of L-thyroxine, both of them showed rapid improvement of above symptoms, except for the incomplete catch-up growth. We herein report two cases of acquired hypothyroidism with severe obesity, short stature, hyperlipidemia and cardiomegaly with review of literatures.
Antibodies ; Cardiomegaly* ; Child ; Constipation ; Fatigue ; Humans ; Hyperlipidemias ; Hypothyroidism* ; Incidence ; Microsomes ; Myxedema ; Obesity ; Obesity, Morbid* ; Pericardial Effusion ; Peripheral Nervous System Diseases ; Puberty, Precocious ; Thyroid Function Tests ; Thyroid Gland ; Thyroxine

The clinical signs of acquired hypothyroidism are usually manifested insidiously over several months to years. The incidence increases after 6 years of age and peaks at 11 to 18 years of age. The clinical symptoms and signs are fatigue, constipation, decreased growth velocity and delayed bone age, compromised intellectual performance, obesity, myxedema, hyperlipidemia, peripheral neuropathy and delayed or precocious puberty. Two children were referred to our hospital for the evaluation of severe obesity and short stature. During the evaluation we found they also had hyperlipidemia, cardiomegaly with or without pericardial effusion. Thyroid function test revealed decreased serum thyroid hormone levels with positive anti- microsome and anti-thyroglobulin antibodies consistent with long-standing acquired hypothyroidism. After the supplement of L-thyroxine, both of them showed rapid improvement of above symptoms, except for the incomplete catch-up growth. We herein report two cases of acquired hypothyroidism with severe obesity, short stature, hyperlipidemia and cardiomegaly with review of literatures.
Antibodies ; Cardiomegaly* ; Child ; Constipation ; Fatigue ; Humans ; Hyperlipidemias ; Hypothyroidism* ; Incidence ; Microsomes ; Myxedema ; Obesity ; Obesity, Morbid* ; Pericardial Effusion ; Peripheral Nervous System Diseases ; Puberty, Precocious ; Thyroid Function Tests ; Thyroid Gland ; Thyroxine

No abstract available.
Angiofibroma*

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.
Adenosine Triphosphate ; CHARGE Syndrome* ; Chromatin Assembly and Disassembly ; Coloboma ; Diagnosis ; Ear ; Genetic Counseling ; Heart ; Humans ; Mutation, Missense ; Nasopharynx ; Parturition

The word "Delayed" in the legend of Figure 2 should have been written as "Controls."

Crypt glandular infection theory is accepted as an explanation of anal fistula's major cause. However, the pathogenesis of an anal fistula in Crohn's disease is different from that of a conventional anal fistula because a Crohn's anal fistula is caused by ulceration which, in turn, is caused by transmural inflammation of the rectal wall due to Crohn's disease. The difficulty with operating on anal fistulas in Crohn's disease lies in the fact that healing of the wound is inhibited because of continuous inflammation of the anorectal tissue due to Crohn's disease. Hence, there is a high possibility of incontinence due to sphincter muscle injury. Especially, because almost all Crohn's disease patients have frequent defecation and diarrhea, the patients will suffer more if incontinence occurs. Nowadays, even with increased understanding of the etiology of Crohn's disease, new medications, and aggressive surgical approaches, the result of treatment is still not satisfactory. Recently, since Korean eating habits have changed to include more western-style food in the diet, inflammatory bowel disease, such as Crohn's disease, is expected to increase. Consequently, the number of cases of anal fistulas in Crohn's disease is also expected to increase. The authors reviewed 20 confirmed cases of anal fistulas in Crohn's disease, which were treated from January 1993 to December 1995 at Song-Do Colorectal Hospital. The results are as follows: 1) Anal fistulas in Crohn's disease were present in 20(0.6%) of the 3378 cases of anal fistulas treated during the time period considered. 2) The male to female ratio for these 20 cases was 2: 1, and the most Prevalent age group was the 3rd decade, followed by the 2nd decade, the 4th decade, and the 5th decade in that order. 3) Three cases of anal fistulas whose origins could be explained by crypt glandular infection theory and which did not involve the rectum healed, although the healing was delayed. 4) Seventeen cases of anal fistulas whose origins could not be explained by crypt glandular infection theory and which involved the rectum did not heal after the operation. he results of the study show that anal fistulas whose origins can be explanined by crypt glandular infection theory and which do not involve the rectum can be cured by conventional fistula surgery. However, perirectal fistulas whose origins can not be explained by crypt glandular infection theory and which involve the rectum do not heal. Because there is the possibility of incontinence after a conventional operation, it is suggested that, in the cases of perirectal fistulas in Crohn's disease, better results, although not completely satisfactory, can be obtained by long-term seton drainage and diversion colostomy.
Colostomy ; Crohn Disease* ; Defecation ; Diarrhea ; Diet ; Drainage ; Eating ; Female ; Fistula ; Humans ; Inflammation ; Inflammatory Bowel Diseases ; Male ; Rectal Fistula* ; Rectum ; Ulcer ; Wounds and Injuries

No abstract available.
Neurofibromatoses* ; Peripheral Nerves*

No abstract available.
Cyclosporine* ; Humans ; Vitiligo*

No abstract available.
Histiocytosis*

No abstract available.
Cholesterol* ; Granuloma*