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1.
Pediatr Neurol ; 3(1): 54-7, 1987.
Artigo em Inglês | MEDLINE | ID: mdl-3508049

RESUMO

A 14-month-old girl with infantile osteopetrosis had hematologic and neurologic complications with severe brain atrophy. Although serum contained high creatine kinase brain isoenzyme activity (CK-BB), CK-BB activity was not detected on repeated cerebrospinal fluid examinations. After frequent blood transfusions and steroid therapy, hematologic involvement improved gradually and disappeared finally at age 11 months; serum CK-BB tended to show a concomitant proportional increase in activity. A 111Indium chloride scan was performed at age 4 weeks when the patient had relatively low serum CK-BB activity. It indicated active extramedullary hematopoiesis in the liver and spleen. The second scan was performed at age 12 months when she had high serum CK-BB activity and indicated active medullary hematopoiesis in the cranium. The tests disclosed that the elevated serum CK-BB activity was the result of bone marrow serum leakage, and not leakage from brain tissue. This finding may be a good marker of medullary hematopoietic activity in patients with osteopetrosis. Meanwhile, biopsied sural nerve revealed storage of cellular debris, including myelin figures in the Schwann cells, which suggested increased degradation process in the cells or lysosomal enzyme deficiency.


Assuntos
Encéfalo/patologia , Creatina Quinase/sangue , Osteopetrose/genética , Atrofia , Biópsia , Consanguinidade , Feminino , Humanos , Lactente , Isoenzimas , Bainha de Mielina/ultraestrutura , Osteopetrose/patologia , Células de Schwann/patologia , Nervo Sural/patologia
2.
Eur J Obstet Gynecol Reprod Biol ; 91(2): 159-64, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10869789

RESUMO

OBJECTIVE: To identify prenatal events associated with cerebral palsy (CP) in infants born between 26 and 30 weeks of gestation. STUDY DESIGN: Case (n=22)-control (n=170) study was performed using a logistic regression model. RESULTS: Significant association of intrauterine infection with increased risk of CP was found in a logistic regression model that controlled for abnormal FHR patterns, placental infection, fetal acidosis at birth (umbilical artery pH<7. 1), and low Apgar score (<7) (odds ratio (OR) 5.47, 95% confidence interval (CI) 1.46-20.4). Magnesium sulfate exposure was associated with decreased risk (OR 0.13, CI 0.03-0.66) after exclusion of premature rupture of the membranes and abruptio placentae. In the magnesium exposure group, cases were infants born less than 28 weeks of gestation (3/21 vs. 0/61, P=0.015). CONCLUSION: In this case-control study, both intrauterine infection and magnesium sulfate exposure were significant factors related to the occurrence of cerebral palsy.


Assuntos
Paralisia Cerebral/etiologia , Idade Gestacional , Sulfato de Magnésio/administração & dosagem , Complicações Infecciosas na Gravidez , Doenças Uterinas/complicações , Descolamento Prematuro da Placenta/complicações , Adolescente , Adulto , Peso ao Nascer , Estudos de Casos e Controles , Feminino , Ruptura Prematura de Membranas Fetais/complicações , Frequência Cardíaca Fetal , Humanos , Modelos Logísticos , Idade Materna , Gravidez , Gravidez de Alto Risco , Fatores de Risco
4.
Acta Paediatr Jpn ; 32(5): 563-5, 1990 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-2284935

RESUMO

We describe the case of a 4-month-old girl with interstitial deletion of the long arm of chromosome 2(46,XX,del(2) (q31q33]. Clinical features included intrauterine growth retardation, psychomotor delay, antimongoloid slanting of the palpebral fissures, hypertelorism, low set ears, cleft palate, micrognathia, luxatio coxae and pes varus. It is suggested that the gene for soluble isocitrate dehydrogenase (IDH1) is located on 2q33.3. The activity of serum IDH1 was in the normal range in this patient.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 2 , Anormalidades Múltiplas/genética , Feminino , Humanos , Lactente , Isocitrato Desidrogenase/deficiência , Isocitrato Desidrogenase/genética
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