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1.
Iranian Journal of Pediatrics. 2010; 20 (1): 101-106
en Inglés | IMEMR | ID: emr-99078

RESUMEN

Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them. The importance of this report is dental involvement [loss of permanent teeth] in Allgrove syndrome that has not been reported in literature


Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Proteínas del Tejido Nervioso , Síndrome , Proteínas de Complejo Poro Nuclear , Avulsión de Diente , Familia , Enfermedad de Addison , Acalasia del Esófago
2.
Iranian Journal of Pediatrics. 2009; 19 (1): 69-74
en Inglés | IMEMR | ID: emr-91421

RESUMEN

Reversible posterior leukoencephalopathy syndrome [RPLE] is an increasingly recognized disorder, most commonly associated with immunosuppressive and cytotoxic agent, malignant hypertension and toxemia of pregnancy. Neurological symptoms are headache, mental and visual disturbance, and seizures. Brain MRI findings are symmetrical bilateral hyper intense areas of occipital and parietal lobes in T2-weighted magnetic resonance [MR] images. This finding is reversible with prompt successful treatment which may take days to weeks for full reversal. We observed a case of status epilepticus which occurred 32 days after liver transplantation in a patient on regimen consisting of Tacrolimus [FK 506]. He had no history of neurologic disease or metabolic abnormalities. Typical findings of RPLE were present on brain MRI. The recurrence of seizures terminated after a few hours with adding Na-valproate to Phenytoin, Phenobarbital and Midazolam. The radiological finding of brain MRI gradually diminished after several weeks. A physician should be alert of seizures during early post transplant period of liver transplantation. He should bear in mind the diagnosis of RPLE and consider discontinuation of immunosuppressive drugs


Asunto(s)
Humanos , Masculino , Síndrome de Leucoencefalopatía Posterior/etiología , Síndrome de Leucoencefalopatía Posterior/complicaciones , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/etiología , Estado Epiléptico/diagnóstico por imagen , Trasplante de Hígado/efectos adversos , Inmunosupresores/efectos adversos , Inmunosupresores , Imagen por Resonancia Magnética/estadística & datos numéricos , Tacrolimus/efectos adversos , Tacrolimus , Ácido Valproico , Midazolam , Fenitoína , Fenobarbital
3.
Iranian Journal of Pediatrics. 2008; 18 (4): 330-334
en Inglés | IMEMR | ID: emr-143528

RESUMEN

The objective of this study was to assess the prevalence of hearing impairment by automated auditory brain stem response [AABR] in newborns admitted to an intensive and intermediate care unit and to analyze the associated risk factors. An observational cross-sectional study was conducted between January 2005 and January 2006. 834 newborns [62% boys and 38% girls] were assessed. Newborns had a mean [SD] gestational age of 36 [2.1] weeks with a mean [SD] birth weight of 2950 [1250] grams. The presence of the following neonatal pathologies was investigated: craniofacial malformations, hyperbilirubinemia [total bilirubin 20 mg/dl for all newborns], neonatal asphyxia, congenital infections, septicemia, birth weight [

Asunto(s)
Humanos , Factores de Riesgo , Prevalencia , Trastornos de la Audición/diagnóstico , Unidades de Cuidado Intensivo Neonatal , Estudios Transversales , Hiperbilirrubinemia Neonatal/complicaciones , Asfixia Neonatal/complicaciones , Peso al Nacer , Trastornos de la Audición/etiología
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