No abstract available.
Intestinal Obstruction*

No abstract available.

No abstract available.
Adult* ; Diaphragm* ; Humans

No abstract available.
Stomach Neoplasms*

No abstract available.
Stomach Neoplasms*

We have experienced an unusual case of mesenteric lymphangiomatosis in a 6-month-old male infant. Computedtomography (CT) disclosed fatty abdominal masses with attenuation coefficient being
Chyle ; Humans ; Infant ; Laparotomy ; Lymphangioma ; Male ; Mesentery

Intramuscular hemangiomas are benign vascular lesions of skeletal muscle and constitutes less than 1% of all hemangiomas. Of all intramuscular hemangiomas, 13-25% occur in the head and neck, presenting lesions of enlarging soft tissue mass associated with pain. Usually they do not exhibit cutaneous changes, such as bluish skin discoloration as seen in cutaneous and superficial subcutaneous lesions. Because of their infrequency, deep location and unfamiliar presentation, intramuscular hemangomas are seldom correctly diagnosed clinically. We encountered a case of intramasseteric hemangioma in a 14-year-old female. She presented intermittent painful swelling on the right preauricular area. Sialography showed a multiple calcified lesion of the soft tissue, while CT scan and MRI showed a tumor mass lying in the masseter muscle. Angiography showed blush lesion but no tumor feeding arteries. After 6 months of intra-lesional sclerosing therapy with alcohol, total regression of tumor was obtained. As we experienced in this case, percutaneous sclerotherapy with alcohol could be the first therapeutic alternative.
Adolescent ; Angiography ; Arteries ; Deception ; Female ; Head ; Hemangioma ; Humans ; Magnetic Resonance Imaging ; Masseter Muscle ; Muscle, Skeletal ; Neck ; Salivary Gland Calculi* ; Sclerotherapy ; Sialography ; Skin ; Tomography, X-Ray Computed

PURPOSE: The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. METHODS: We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine. RESULTS: Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were 50.0+/-22.5 days and 34.9+/-13.5 days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. CONCLUSION: Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria.
Diet ; Early Diagnosis ; Homocysteine ; Homocystinuria ; Humans ; Incidence ; Infant, Newborn ; Methionine ; Neonatal Screening ; Plasma ; Retrospective Studies

Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of neurotransmitter precursors L-dopa and 5-hydroxytryptophan. BH4 deficiency is much rarer than classical phenylketonuria. Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is a cause of malignant hyperphenylalaninemia due to BH4 deficiency. When left untreated, DHPR deficiency leads to neurologic deterioration at the age of 4 or 5 months, including psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Treatment of DHPR deficiency should be initiated as early as possible with BH4 supplementation and replacement of the neurotransmitter precursors L-dopa and 5-hydroxytryptophan. We report the first case of DHPR deficiency in Korea, a child diagnosed at 9 years of age by genetic testing.
5-Hydroxytryptophan ; Biopterin ; Child ; Deglutition ; Dihydropteridine Reductase ; Dyskinesias ; Fever ; Genetic Testing ; Humans ; Korea ; Levodopa ; Neurotransmitter Agents ; Phenylketonurias ; Regeneration ; Sialorrhea ; Sleep Stages

The morphological features of a retroperitoneal teratoma in a 10-month-old girl are reported. Unlike the usual pattern of the teratoma, this tumor was composed predominantly of nephroblastomatous tissue. Histologically, glomeruloid and tubular structures were identified in nests of undifferentiated blastemal elements. Hyaline cartilage, adipose tissue, glial tissue and glands lined by mucin-secreting columnar epithelium were minor elements. A focal cystic structure lined by thin flattened epithelium was also noted. Retroperitoneal teratoma with predominance of nephroblastic elements is of interest not only because of its rarity but also because it needs to be differentiated from extrarenal Wilms' tumor, since both of these tumors have different origins.
Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Kidney Neoplasms/*pathology ; Magnetic Resonance Imaging ; Retroperitoneal Neoplasms/drug therapy/*pathology/surgery ; Teratoma/drug therapy/*pathology/surgery ; Wilms Tumor/*pathology