Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

This study was done to determine the trans fatty acid (tFA) composition of human milk from postpartum to sixth months after delivery, to investigate the tFA intake of lactating women, and to estimate the intakes of tFA by infants exclusively fed breast milk. A total of 27 lactating Korean women participated to this study voluntarily, gave their breast milk, and responded to an investigation of their diets. The lactating women consumed 2.3-2.8 g/d of tFAs over the period of the first, second, third, and sixth months postpartum, which was 3.4-4.9% of the total fat intake and 0.8%-1.2% of the total energy intake. The proportions of tFAs in the breast milk were 1.89% in colostrum, 1.78% in transitional milk, and 1.78-2.25 in mature milk of the first, second, third, and sixth months postpartum. The tFAs of the breast milk identified in this study were C16:1n9t, C18:1n9t, C18:2n6t12t, C18:2 n6t12c, C18:2n6c12t and C18:2n6t11t. Among them, C18:1n9t was predominant, which made up 59.26% of all tFAs in colostrum, 62.36% in transitional milk, and 64.42% in mature milk. The proportion of total tFA was unchanged with time, although some significant differences were noted for individual tFAs. The percentages of C18:2n6t12c and C18:2n6c12t decreased over the study period. Estimated tFA intake of the exclusively breast-fed infants was 0.18 g/d when fed colostrum, 0.29 g/d when fed transitional milk, and 0.53 g/d when fed mature milk until the sixth month of postpartum. Those were 0.5%, 0.8%, and 1.1% of the total energy intake. The results in this study indicate that lactating Korean women consume not a large quantity of tFAs, secrete breast milk not containing much tFA, and the estimated intake of tFAs by infants fed exclusively breast milk is not great.
Breast* ; Colostrum ; Diet ; Energy Intake ; Female ; Humans ; Infant ; Milk ; Milk, Human* ; Postpartum Period* ; Trans Fatty Acids*

No abstract available.
Hydranencephaly*

Tension pneumocephalus is a rare complication of craniotomy, however, it should be managed promptly due to rapid neurological deterioration. We report a case of tension pneumocephalus after transsphenoidal surgery for a giant pituitary tumor. It may have developed because of the cerebrospinal fluid rhinorrhea and presence of an external lumbar drain.
Cerebrospinal Fluid Rhinorrhea ; Craniotomy ; Pituitary Neoplasms* ; Pneumocephalus*

PURPOSE: To report two cases of ocular ischemia following scleral encircling. METHODS: A 21-year-old man with glaucoma and a 76-year-old woman without any medical problem were transferred to our department for surgery to treat retinal detachment. After retrobulbar anesthesia and limbal peritomy of conjunctiva, the 4-rectus muscles were isolated. Scleral encircling was performed with No. a 42 band (4.0 mm in width) after cryotherapy done completely around retinal tear. RESULTS: Following surgery, One patient experienced ophthalmic artery occlusion and while the other patient experienced central retinal artery occlusion. Vision was not restored in either cases despite IV injection of 250 ml of 15% mannitol solution and anterior chamber paracentesis. CONCLUSIONS: In the cases where patients are of old age or suffer from glaucoma, we strongly recommend that the surgeons perform the scleral encircling carefully.
Aged ; Anesthesia ; Anterior Chamber ; Conjunctiva ; Cryotherapy ; Female ; Glaucoma ; Humans ; Ischemia* ; Mannitol ; Muscles ; Ophthalmic Artery ; Paracentesis ; Retinal Artery Occlusion ; Retinal Detachment ; Retinal Perforations ; Young Adult

To examine the relationship between birth characteristics and childhood cancer mortality, a retrospective cohort study of Korean children was conducted using data collected by the national birth register between 1995 and 2006, which were then individually linked to death data. A cohort of 6,479,406 children was followed from birth until their death or until December 31, 2006. Poisson regression analyses were used to calculate rate ratios of childhood cancer deaths according to birth characteristics. A total of 1,469 cancer deaths were noted and the childhood cancer mortality rate was found to be 3.43 per 100,000 person-years in Korea during the period of 1995-2006. The birth characteristics examined in this study (i.e. , birth weight, gestational age, multiple births, parental ages, and number of siblings) were generally found to be not significantly associated with childhood cancer mortality, and the associations did not vary meaningfully with gender nor with cancer sites. However, among children aged 5-11 yr, higher birth weight was associated with elevated childhood cancer mortality (rate ratio = 1.28, 95% confidence interval 1.04-1.58). Our results offer no overall associations between childhood cancer mortality and birth characteristics, but suggest that the association may be specific to age group.
Birth Weight ; Child ; Child, Preschool ; Cohort Studies ; Gestational Age ; Humans ; Multiple Birth Offspring ; Neoplasms/*mortality ; Parents ; Republic of Korea ; Retrospective Studies ; Risk Factors ; Siblings ; Socioeconomic Factors

Tardive blepharospam is characterized by repetitive, forceful, and sustained involuntary contractions of the orbicularis oculi. We report here one case of neuroleptic-induced tardive blepharospasm that developed during high-dose amisulpride treatment and was treated with clozapine. The patient was a 29-year-old man with a 6-year history of schizophrenia. After 33 months of amisulpride treatment (1200 mg/day), involuntary eye-blinking had developed. Following exclusion of all other possible etiopathological causes of the blepharospasm, we decided to switch the drug treatment from amisulpride to clozapine. On the fourteenth day of clozapine (250 mg/day) treatment, we observed significant improvements in eye-blinking and psychotic symptoms. Four months later, the eye-blinking had remitted completely. We suggest that amisulpride may cause blepharospasm and lead to an impaired ability to perform daily activities. Therefore, we recommend that clinicians regularly monitor involuntary movements in patients receiving antipsychotic treatment, especially when high doses of amisulpride are involved.
Adult ; Blepharospasm ; Clozapine ; Contracts ; Dyskinesias ; Humans ; Organothiophosphorus Compounds ; Schizophrenia ; Sulpiride

Antipyschotics have been frequently reported being associated with hyponatremia. We have experienced two cases of severe hyponatremia with neurological symptoms in patients with acute schizophrenia who were treated with risperidone. Case 1 was a 33-year-old female who developed hyponatremia (Na+114 mEq/L) at 17 days after initiation of treatment with risperidone. Case 2 was a 41-year-old female who developed hyponatremia (Na+107 mEq/L) 5 months after treatment with risperidone. In both cases, polydipsia was not obvious. The exact cause of hyponatremia was uncertain, but we suggest that syndrome of inappropriate secretion of antidiuretic hormone due to risperidone may be the mechanism of hyponatremia in both cases. Although there have been many recent studies about the pathophysiology of hyponatremia among psychiatric patients, the exact mechanism remains unclear. There have been many case reports in the literature of hyponatremia associated with antipsychotics. We suggest that risperidone may be a potential drug that can cause hyponatremia and lead to life-threatening neurological symptoms in the early stage treatment, and that clinicians should monitor patients on a regular basis.
Adult ; Antipsychotic Agents ; Coma ; Female ; Humans ; Hyponatremia ; Morphinans ; Organothiophosphorus Compounds ; Polydipsia ; Risperidone ; Schizophrenia

BACKGROUND: Magnesium sulfate (MgSO4) is widely utilized in the treatment of preeclamptic hyperreflexia. It is well known that magnesium enhances nondepolarizing neuromuscular blockade. Eclamptic convulsions are almost always prevented by magnesium in plasma concentrations of 4 to 7 mEq/L. METHODS: The effects of various concentration of magnesium on the potency and reversibility of pipecuronium were investigated in vitro rat phrenic nerve-hemidiaphragm. The phrenic nerve-hemidiaphragm was dissected and suspended in organ bath containing modified Krebs' solution. Forty samples were divided into 4 groups (n=10 in each group). Group I was studied at the physiologic magnesium concentration(2.4 mEq/L, control group). Group II, III, IV were studied at the concentration of 4, 5.5, and 7 mEq/L, respectively. In each group, we added pipecuronium until twitch height decreased more than 90% of initial level. To compare the recovery, we added neostigmine and calcium, and then, measured TOF ratio. RESULTS: The amounts of added pipecuronium were 73.8+/-15.2 microgram (mean+/-S.D.) in Group I, 38.1+/-5.0 microgram in Group II, 33.0+/-4.1 microgram in Group III and 16.1+/-1.7 microgram in Group IV. The amounts of pipecuronium in Group II, III, IV were significantly less than Group I. After the addition of neostigmine, the values of TOF ratio were under 0.6 in all groups. But after the addition of calcium, all groups were recovered with TOF ratio over 0.85 except Group I. CONCLUSIONS: This study indicated that the increased magnesium concentration potentiated pipecuronium-induced neuromuscular blockade and at higher level, it was more apparent. Neostigmine was not significantly effective to reverse the pipecuronium-induced neuromuscular blockade potentiated with magnesium. But calcium was significantly effective.
Animals ; Baths ; Calcium ; Magnesium Sulfate ; Magnesium* ; Neostigmine ; Neuromuscular Blockade* ; Pipecuronium ; Plasma ; Rats* ; Reflex, Abnormal ; Seizures

BACKGROUND AND OBJECTIVES: Transcanal antrotomy approach (TCA) enables not only good exposure but also minimal incision approach required for pediatric congenital cholesteatoma (CC). The addition of "CO2 laser enabled ablation and resection (CLEAR)" would facilitate safe and complete removal of CC from stapes. This study evaluates the clinical results of surgically removing CC through TCA with CLEAR (minimal incision approach with CO2 laser, MICL). SUBJECTS AND METHOD: The medical records of patients who underwent endaural extended tympanostomy, MICL, or postauricular approach for CC removal from January 2009 to September 2011 were reviewed in this study. RESULTS: MICL was performed in 37 patients of Potsic I, II CC. It was effective in surgical exposure and reducing the chance of residual CC. MICL could satisfactorily avoid postauricular tympanomastoidectomy, which allowed preservation of healthy mastoid air cells for almost all Potsic III CC, including posterior CC (14 patients). MICL was also useful for 6 cases of Potsic IV CC that extended beyond the incus posterosuperiorly to the auditus ad antrum. Children were not committed to second look operation because the attic was exteriorized with-out the cavity problem and the complete removal of CC from the stapes was facilitated with CLEAR. CONCLUSION: MICL enabled sufficient exposure with less invasive approach as well as complete CC removal, which reduced the postoperative complications and needs for second look operation. This surgical technique could be widely used for Potsic stage I, II, III, and some IV CC.
Child ; Cholesteatoma ; Ear Neoplasms ; Humans ; Incus ; Lasers, Gas ; Mastoid ; Medical Records ; Middle Ear Ventilation ; Postoperative Complications ; Stapes