Retinoblastoma is a rare disease, but most common tumor which arises in eye. It can affect one or both eyes, and the main pathophysiology is explained by the "Two-hit theory" - the germline mutation of the RB1 gene. Most common clinical symptoms are leuocoria, strabismus, poor visual tracking, glaucoma, and orbital cellulitis. Diagnosis is made by ophthalmologist through fundoscopic examination; Examination under General Anesthesia (EUA) is recommended until the age 3. Orbital CT and MRI can detect the tumor invasion on optic nerve, central nervous system. CSF studies, examination of bone is helpful if the distant metastasis is suspected. Biopsy is rarely done unless in the case of enucleation. Enucleated eye should be explored for the invasion to the optic nerve, choroid, anterior chamber, iris and pupil. Treatment strategies can be different according to the disease status. If the single eye is involved, the treatment goal will be the removal of tumor and prevention of relapse. Local therapies include cryotherapy, laser photocoagulation, thermotherapy can be the choice, and if the tumor is too large for the local therapy, enucleation should be concerned. Nowadays, chemo-reduction combined with local therapy, intra-arterial and intravitreous chemotherapeutic agent injections are studied to avoid enucleation. In bilateral retinoblastoma, multidisciplinary treatments include chemoreduction, external beam radiotherapy, local therapy and other experimental therapies are needed: like intra-arterial injection, intra-vitreal injection, and high-dose chemotherapy with autologous stem cell transplantation. Early detection of retinoblastoma is important to save the vision and eyeball.
Anesthesia, General ; Anterior Chamber ; Biopsy ; Central Nervous System ; Choroid ; Cryotherapy ; Diagnosis ; Drug Therapy ; Eye Enucleation ; Germ-Line Mutation ; Glaucoma ; Hyperthermia, Induced ; Injections, Intra-Arterial ; Intravitreal Injections ; Iris ; Light Coagulation ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; Optic Nerve ; Orbit ; Orbital Cellulitis ; Pupil ; Radiotherapy ; Rare Diseases ; Recurrence ; Retinoblastoma ; Stem Cell Transplantation ; Strabismus ; Therapies, Investigational

H-type tracheoesophageal fistula (TEF) is extremely rare in infants and children, and clinical manifestations of this condition are diverse based on its severity. Some cases of congenital TEF diagnosed in adulthood have been reported, which indicate the difficulty of early diagnosis of this disease. Gastroesophageal reflux (GER) may induce chronic aspiration, pulmonary aspiration, apparent life-threatening events, and failure to thrive. We report a 5-month- old boy whose recurrent pneumonia and wheezing did not improve under usual treatment and led to acute respiratory distress syndrome. He was found to have severe GER on the second-trial of the esophagogram and was eventually revealed to have congenital H-type TEF upon repeated evaluation.
Child ; Early Diagnosis ; Failure to Thrive ; Gastroesophageal Reflux ; Humans ; Infant ; Pneumonia ; Respiratory Distress Syndrome, Adult ; Respiratory Sounds ; Tracheoesophageal Fistula

PURPOSE: A prospective, controlled trial was conducted to evaluate growth, efficacy, safety and nutritional status for very low birth weight infants fed with human milk fortified with Maeil human milk fortifier (Maeil HMF(R); Maeil Dairies Co., Ltd.). METHODS: We enrolled 45 premature infants with a birth weight <1,500 g and gestational age <33 weeks, who were born at Dong-A University Hospital from October, 2006 through December, 2007. They were divided into 2 groups: infants in one group were fed with human milk fortified with HMF(R), and the second were fed with preterm formula. Growth, biochemical indices, feeding tolerance, and other adverse events in each group were assessed serially and compared relatively. Follow-up data were also collected after discharge at 1, 3, and 6 months corrected age. RESULTS: Characteristics of the 2 groups including average gestational age, birth weight, sex, respiratory distress syndrome, patent ductus arteriosus, and other adverse events (sepsis, retinopathy of prematurity, and intraventricular hemorrhage) showed no significant difference. Average feeding start day (8.00+/-3.27 d vs. 8.86+/-5.37 d) (P=0.99) and the number of days required to reach full feeding after start feeding (41.78+/-20.47 d vs 36.86+/-20.63 d) (P=0.55) were not significantly different in the group fed human milk fortified with HMF(R) when compared with the group that was fed preterm formula. The duration of total parenteral nutrition and the incidence of feeding intolerance also showed no differences between the 2 groups. Although infants fed with human milk fortified with HMF(R) showed faster weight gain than those fed with preterm formula at the end stage of the admission period, other growth indices of the two groups showed no significant difference. No significant correlations were found between the 2 groups with regard to weight gain velocity, height gain velocity, head circumference velocity, and post- discharge follow up growth indices. CONCLUSION: Premature infants fed human milk fortified with HMF(R) showed no significant difference compared with those fed preterm formula in growth, biochemical indices, and adverse events. Using human milk fortifier can be an alternative choice for very low birth weight infants, who need high levels nutritional support even after discharge from NICU.
Birth Weight ; Ductus Arteriosus, Patent ; Follow-Up Studies ; Gestational Age ; Head ; Humans ; Incidence ; Infant ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight ; Milk, Human ; Nutritional Status ; Nutritional Support ; Parenteral Nutrition, Total ; Prospective Studies ; Retinopathy of Prematurity ; Weight Gain

Miller Fisher syndrome, first reported by Miller Fisher in 1956, is characterized by a triad of external ophthalmoplegia, areflexia, and ataxia. Many features shared with Guillain-Barre syndrome; CSF usually shows elevated proteins and the syndrome is often is preceded by an infectious disorder. It is believed that the level of anti-GQ1b IgG antibody is elevated during an acute phase, increases and decreases rapidly during clinical recovery, that the level of anti-GQ1b IgG can be used as a diagnostic tool for Miller Fisher syndrome during an acute phase. We report an 8 year-old boy who showed typical clinical manifestations of Miller Fisher syndrome, with respiratory tract illness, associated with the seroconversion of Mycoplasma pneumoniae titers during the development of neurological symptom, with positive anti- GQ1b IgG.
Ataxia ; Child* ; Guillain-Barre Syndrome ; Humans ; Immunoglobulin G ; Male ; Miller Fisher Syndrome* ; Mycoplasma pneumoniae* ; Mycoplasma* ; Ophthalmoplegia ; Pneumonia, Mycoplasma* ; Respiratory System