RESUMO
Turner syndrome (TS) affects nearly 1 in 2000 live births (1) and craniopharyngioma, a benign brain tumor, has been reported to occur at an incidence of 1.3 per million (2). These rare disorders are not known to coexist. The authors report a patient with incidental suprasellar mass who was diagnosed with both craniopharyngioma and TS, a rare association.
Assuntos
Neoplasias Encefálicas , Craniofaringioma , Neoplasias Hipofisárias , Síndrome de Turner , Craniofaringioma/complicações , Craniofaringioma/diagnóstico , Humanos , Incidência , Neoplasias Hipofisárias/diagnóstico , Síndrome de Turner/complicações , Síndrome de Turner/diagnósticoRESUMO
Evans syndrome is a rare and chronic autoimmune disease seen in both paediatric and adult age groups. We present a case of severe thrombocytopenia in a neonate born to a mother with Evans syndrome who showed no response to intravenous immunoglobulin therapy initially and improved after treatment with methylprednisolone.
Assuntos
Anemia Hemolítica Autoimune , Púrpura Trombocitopênica Idiopática , Trombocitopenia Neonatal Aloimune , Adulto , Anemia Hemolítica Autoimune/complicações , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/tratamento farmacológico , Criança , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Recém-Nascido , Púrpura Trombocitopênica Idiopática/complicações , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , TrombocitopeniaRESUMO
We conducted a review of hospital records of infants with acute encephalitis syndrome with bilateral symmetrical basal ganglia infarcts, between 2011-2015, at a single center in Assam. Thiamine (as part of multivitamin injection) was used in the treatment of 23 infants and not used in 27; Only 1 (3.7%) infant died in the former group and 20 infants (86.9%) died in the latter [RR (95% CI) 0.04 (0.006,0.29); P<0.001). Two infants on follow-up had normal development, both in the thiamine group. The study suggests the possibility of subclinical thiamine deficiency, mitochondrial diseases, or SLC19A3 gene mutation in this population.
Assuntos
Encefalopatia Aguda Febril , Doenças dos Gânglios da Base , Diagnóstico Diferencial , Encefalopatia Aguda Febril/diagnóstico , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/tratamento farmacológico , Doenças dos Gânglios da Base/genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Proteínas de Membrana Transportadoras/genética , Proteínas de Membrana Transportadoras/uso terapêutico , Tiamina/uso terapêuticoRESUMO
Malignancies are rare in the early neonatal period. Common congenital tumours include malignant teratoma and neuroblastomas. Tumour lysis syndrome is a serious condition usually seen after commencement of chemotherapy for a malignancy. Rare case reports of spontaneous tumour lysis have been reported though not in the newborn period. We report here an instance of tumour lysis syndrome in a newborn with congenital rhabdoid tumour, where the cause was either spontaneous or related to antenatal steroid exposure.
