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1.
Med J Malaysia ; 60(1): 91-3, 2005 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16250288

RESUMEN

In this article, we present an 18-month-old girl with acute iron poisoning who died from acute respiratory distress syndrome due to overdose of desferrioxamine. Our purpose is to emphasize the importance of close follow-up children with acute iron poisoning for desferrioxamine toxicity.


Asunto(s)
Deferoxamina/envenenamiento , Síndrome de Dificultad Respiratoria/inducido químicamente , Sideróforos/envenenamiento , Sobredosis de Droga/complicaciones , Femenino , Humanos , Lactante
2.
Kobe J Med Sci ; 46(5): 201-4, 2000 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-11417295

RESUMEN

Various complications related to gastrointestinal system, central nervous system, and skeletal system may be observed during typhoid fever, but splenic abscess and pleural effusion are rarely encountered. A 12-year-old boy was admitted with fever, fatigue and pallor. On examination he had hepatosplenomegaly and severe anemia. He was diagnosed as having Salmonella typhi infection complicating with splenic abscess, pleural effusion and severe anemia, and successfully treated with percutaneous drainage with ultrasonography and antibiotics. In conclusion we would like to emphasize that typhoid fever should also be considered in patients with hepatosplenomegaly and severe anemia, and percutaneous drainage with ultrasonography may successfully be used in management of splenic abscess in typhoid fever.


Asunto(s)
Absceso/microbiología , Anemia/etiología , Derrame Pleural/microbiología , Salmonella typhi/aislamiento & purificación , Enfermedades del Bazo/microbiología , Fiebre Tifoidea/complicaciones , Fiebre Tifoidea/diagnóstico , Absceso/diagnóstico , Absceso/terapia , Anemia/diagnóstico , Anemia/terapia , Antibacterianos/administración & dosificación , Niño , Drenaje/métodos , Estudios de Seguimiento , Humanos , Masculino , Derrame Pleural/diagnóstico , Derrame Pleural/terapia , Medición de Riesgo , Enfermedades del Bazo/diagnóstico , Enfermedades del Bazo/terapia , Turquía
3.
Genet Couns ; 14(3): 343-8, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14577680

RESUMEN

The patient is a 12-year-old boy with a history of learning disability, growth retardation, and strabismus. Weight, height and head circumference were below the 3rd percentile. A café-au-lait spot, 1x1 cm a diameter, on the back region and pectus excavatum deformity were diagnosed. He had facial asymmetry, a broad nose, sparse eyebrows and eyelashes, a rudimentary frontal sinus, deviation of the nasal septum, and bilateral small maxillary bones. The left orbital fossa was also mildly rudimentary. On eye examination the movements of the left globe to the upward and lateral side were limited and internal strabismus was noted at this side. Visual acuity was 1/10, bilaterally. Bilateral choroid coloboma, glaucoma, vertical and horizontal nystagmus were diagnosed. Fundoscopic examination revealed bilateral optic atrophy and macular and paramacular granulation tissues on the left side. Intelligence quotient was 46. Electroencephalography revealed bilateral frontal slow-wave activity. Visual evoked potential revealed prolonged p100 wave latencies bilaterally. Magnetic resonance imaging of the brain demonstrated corpus callosum dysgenesis, bilateral subcortical heterotopia in the frontal lobes and subependymal heterotopia in the posterior horn of the left ventricle. Chromosomal analysis revealed a normal male karyotype, 46, XY. Although several cases of heterotopia in association with mental retardation, craniofacial dysmorphism, cerebral, and eye abnormalities have been described the combination of abnormalities diagnosed in our case has not previously been reported. We hypothesize that the combination of subcortical/subependymal heterotopia, corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation may be a new syndrome.


Asunto(s)
Agenesia del Cuerpo Calloso , Encefalopatías/genética , Coristoma/genética , Anomalías del Ojo/genética , Trastornos del Crecimiento/genética , Discapacidad Intelectual/genética , Cráneo/anomalías , Anomalías Múltiples , Encefalopatías/complicaciones , Niño , Coristoma/complicaciones , Anomalías del Ojo/complicaciones , Trastornos del Crecimiento/complicaciones , Humanos , Discapacidad Intelectual/complicaciones , Cariotipificación , Imagen por Resonancia Magnética , Masculino
4.
Genet Couns ; 15(2): 159-65, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15287415

RESUMEN

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.


Asunto(s)
Anomalías Múltiples , Llanto , Músculos Faciales/anomalías , Facies , Debilidad Muscular/congénito , Anomalías Múltiples/epidemiología , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Debilidad Muscular/epidemiología , Turquía/epidemiología
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