ABSTRACT
Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.
Subject(s)
Male , Infant , Humans , Spasms, Infantile/etiology , Mutation , Magnetic Resonance Imaging , Glial Fibrillary Acidic Protein/genetics , Electroencephalography , Alexander Disease/complicationsABSTRACT
PURPOSE: This study is for being aware of clinical manifestations in neonates with tachypnea; discussing the early clinical characteristics that would lead to prolonged symptoms; and investigating the predictive factors that would cause more morbid and progressive diseases other than transient tachypnea of the newborn (TTN). METHODS: Based on the medical records, we retrospectively investigated 44 neonates who were admitted to the neonatal intensive care unit in Dongguk University Hospital of Pohang for tachypnea, from March 1, 2003 to December 31, 2005. RESULTS: The patient characteristics showed male predominance of 2.6:1. Among the 44 neonates with tachypnea, TTN (24 cases, 54.5%) showed the highest incidence, followed by pneumonia (6 cases, 13.6%), idiopathic respiratory distress syndrome (5 cases, 11.4%), meconium aspiration syndrome (4 cases, 9.1%), cardiac disease (2 cases, 4.5%), sepsis (2 cases, 4.5%) and neonatal asphyxia (1 case, 2.3%). We compared TTN group with other groups including pneumonia, idiopathic respiratory distress syndrome, and meconium aspiration syndrome. We observed less incidence of premature rupture of membrane (PROM) (P<0.05); less likely to develop tachypneic symptom after 12 hours postpartum (P<0.05); shorter duration of tachypneic symptom (P<0.05); and less incidence of nasal flaring (P<0.05) in TTN group. CONCLUSION: The higher chance of pulmonary complications was observed in tachypneic neonates with either history of PROM or onset of tachypneic symptom after 12 hours postpartum. The prolonged tachypneic symptom and combined pulmonary complications were seemed to be accompanied with neonates showing nasal flaring.
Subject(s)
Humans , Infant, Newborn , Male , Asphyxia , Heart Diseases , Incidence , Intensive Care, Neonatal , Meconium Aspiration Syndrome , Medical Records , Membranes , Pneumonia , Postpartum Period , Retrospective Studies , Rupture , Sepsis , Tachypnea , Transient Tachypnea of the NewbornABSTRACT
This report is a review of experience with 45 patients plication methods of redundant rectal mucosa by longitudinal over and over suture who were admitted in department of surgery at Dongsan sacred Heart Hospital during 1997. This new technique was indicated by incomplete rectal prolapse, first degree complete rectal prolapse (internal rectal intussusception), 3rd degree hemorrhoids, redundant rectal mucosa in operation field, anal prolapse and severe external anal skin tag. At first, entire hemorrhoid-bearing area was dissected by excision and ligation methods. Within upward 1cm from ligationpoint, No.3 chromic catgut suture was done including rectal submucosa. Starting from this, linear continueous overlapping locking suture was done until redundant mucosa was tented by Chromic suture traction in range of 1 to 1.5 cm widths. If there is wide redundant mucosa not corrected one time, another linear continuous overlapping locking suture especially not circular may be done. This method is very easy and few complication-bleeding, pain, infection, mucosa loss, etc. The patients who have incomplete defecation sensation, rectocele and skin tag were satisfied with operation. This method may be an easy, effective new technique in patients who have anal prolapse, skin tag, rectocele and constipation etc.