No abstract available.
Leukoencephalopathies*

Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.
Acanthosis Nigricans ; Adipose Tissue ; Female ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hypertrophy ; Insulin ; Lipodystrophy*

OBJECTIVE: To evaluate the dose effect of recombinant mouse granulocyte-macrophage colony-stimulating factor (rmGM-CSF) or brain-derived neurotrophic factor (BDNF) in culture medium on the development of in vitro fertilized mouse embryos. METHODS: Mature oocytes were retrieved from superovulated female BDF1 mice and inseminated by sperm from male BDF1 mice. On day 1, two-cell stage embryos were divided and cultured until day 5 in the embryo maintenance medium supplemented with 0, 1, 2, 5, or 10 ng/mL of rmGM-CSF or supplemented with 0, 5, 10, or 20 ng/mL of BDNF. Blastocyst formation rate and their cell numbers were assessed. RESULTS: The blastocyst formation rate and the total cell count in blastocyst was similar in all the rmGM-CSF treatment groups when compared with the control. However, the blastocyst formation rate and the total cell count was significantly higher in the group supplemented with 10 ng/mL of BDNF compared with the control (63.9%, 45.8+/-11.5 vs. 52.3%, 38.0+/-6.8; P<0.05, respectively). CONCLUSION: Supplementation of 10 ng/mL of BDNF enhanced the developmental potential of mouse preimplantation embryos, but supplementation of rmGM-CSF did not.
Animals ; Blastocyst* ; Brain-Derived Neurotrophic Factor* ; Cell Count ; Embryonic Structures ; Female ; Granulocyte-Macrophage Colony-Stimulating Factor* ; Humans ; Male ; Mice* ; Oocytes ; Spermatozoa

Norcardia is an aerobic, gram-positive, AFB positive filamentous organism which is frequently branching. Nocardial infection is usually opportunistic and is found in immunosuppressed patients during transplantation or anti-cancer chemotherapy. With the increasing number of AIDS, nocardial infection have been increasingly recognized as a serious human infection. Among patients on peritoneal dialysis, Nocardia is a rare cause of peritonitis : only one case has been reported in Korea. It is extremely important to make an early and correct diagnosis and treatment with susceptible antibiotics. We report here a case of nocardial peritonitis associated with Continuous Ambulatory Peritoneal Dialysis(CAPD) which was resistant to trimethoprim/sulfamethoxazole and has treated successfully with imipenem and amikacin.
Amikacin ; Anti-Bacterial Agents ; Diagnosis ; Drug Therapy ; Humans ; Imipenem ; Korea ; Nocardia ; Peritoneal Dialysis ; Peritoneal Dialysis, Continuous Ambulatory* ; Peritonitis*

The authors performed cycloplegic refraction in premature infants at the 6 months and 3 years of age to evaluate the incidence and degree of myopia and the changes of refractive errors according to the development, disease course and cryotherapy of retinopathy of prematurity (ROP). In 180 eyes of 99 infants at the 6 months of age, the incidences of myopia were not different between eyes with no ROP and eyes with spontaneously regressed ROP (36.3%, 25.5%), and the degrees of myopia were low in both groups (-1.76D, - 2.25D). In eyes with regressed ROP after cryotherapy, the incidence of myopia was high (75.5%) but the degree of myopia low (-3.0:3D). In eyes with cicatrical ROP, cryotreated or not, both of the incidence and the degree of myopia were high(93.9%, -5.50D). It is suggested that the incidence of myopia is increased after cryotherapy but the degree of myopia occurring after cryotherapy is low. In eyes with spontaneously regressed ROP, the degrees of refractive errors did not change from 6 months to 3 years of age, whereas in eyes cryotreated or with cicatrical ROP, the degrees of refractive errors were progressively changed to myopic side.
Cryotherapy ; Humans ; Incidence ; Infant ; Infant, Newborn ; Infant, Premature* ; Myopia* ; Refractive Errors ; Retinopathy of Prematurity

PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.
Adrenocorticotropic Hormone ; Child* ; Diabetes Insipidus ; Exophthalmos ; Female ; Growth Hormone ; Humans ; Hydrocephalus ; Hypopituitarism ; Hypothalamus ; Hypothyroidism ; Optic Nerve ; Optic Nerve Glioma* ; Orbit ; Radiotherapy ; Retrospective Studies ; Strabismus ; Thyroid Function Tests ; Visual Acuity

PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.
Adrenocorticotropic Hormone ; Child* ; Diabetes Insipidus ; Exophthalmos ; Female ; Growth Hormone ; Humans ; Hydrocephalus ; Hypopituitarism ; Hypothalamus ; Hypothyroidism ; Optic Nerve ; Optic Nerve Glioma* ; Orbit ; Radiotherapy ; Retrospective Studies ; Strabismus ; Thyroid Function Tests ; Visual Acuity

The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our patient was not diagnosed until age 13, although he had a cleft palate and presented with nasal speech and learning disturbances. He had no clinical manifestations of hypocalcemia until age 13, when he developed generalized tonic-clonic convulsions several times in that year. Laboratory tests showed hypocalcemia, hyperphosphatemia, with normo-to-low parathyroid hormone levels in the serum. Chromosome analysis with FISH revealed a deletion on the proximal portion of the long arm of chromosome 22(22q11.2). The authors herein report a case of CATCH22 syndrome who showed hypocalcemic convulsions in late childhood with a review of the literature.
Arm ; Cleft Palate ; DiGeorge Syndrome* ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Learning Disorders ; Parathyroid Hormone ; Seizures*

No abstract available.
Adrenoleukodystrophy*

PURPOSE:In idiopathic central precocious puberty(CPP), characterized by premature but otherwise normal puberty, the early onset of the pubertal growth spurt with increased height velocity results in premature epiphyseal closure with reduced final height. We examined the growth and growth-determining factors in female patients with CPP treated with a long-acting luteinizing hormone-releasing hormone analogue(Tryptorelin). METHODS:Ten female patients who were diagnosed as idiopathic precocious puberty were treated with Tryptorelin(0.06mg/kg, IM every 4 weeks) for 2 years. We evaluated the patients into two groups(Group A, 4 cases, predicted adult height before treatment were less than 150cm; Group B, 6 cases, predicted adult height before treatment were 150cm or greater), and analysed the growth and its determing factors. RESULTS:In total patients, the growth velocity during the second year were decreased to 4.1+/-1.9 from 5.7+/-2.2/yr during the first year(p>0.05) and no significant difference was found in predicted adult height(PAH) before and after 2 years of treatment(152.3+/-6.7 vs. 1453.9+/-6.8cm). The difference between the PAH before and after 2 years of treatment was not correlated with age, bone age, PAH, height standard deviation score(Ht SDS) before treatment, but correlated with difference between the PAH before and after 1 year of treatment(r=0.89310, P=0.0005). The mean Ht SDS for bone age in group A were significantly lower than those in group B(P<0.05). In group A, the mean PAH increased from 147.0+/-1.9 to 153.7+/-3.7cm during two years of treatment, but no difference in PAH was found in group B. So PAH were similar in two groups(154.1+/-8.7 vs. 153.7+/-3.7cm) after second year. The mean difference between bone age and chronological age decreased from 4.5+/-1.3 to 3.0+/-1.3 years in group A(P<0.05). CONCLUSION: Long-term Tryptorelin treatment is more effective in girls with idiopathic central precocious puberty, whose PAH before treatment were below 150cm. If PAH before treatment is 150 cm or greater or increase in PAH during the first year of treatment is poor, this treatment modality might be useless in terms of improved growth.
Adolescent ; Adult ; Female* ; Gonadotropin-Releasing Hormone* ; Humans ; Lutein* ; Puberty ; Puberty, Precocious*