ABSTRACT
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.
Subject(s)
Brain Neoplasms , Craniopharyngioma , Pituitary Neoplasms , Turner Syndrome , Craniopharyngioma/complications , Craniopharyngioma/diagnosis , Humans , Incidence , Pituitary Neoplasms/diagnosis , Turner Syndrome/complications , Turner Syndrome/diagnosisABSTRACT
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.
Subject(s)
Anemia, Hemolytic, Autoimmune , Purpura, Thrombocytopenic, Idiopathic , Thrombocytopenia, Neonatal Alloimmune , Adult , Anemia, Hemolytic, Autoimmune/complications , Anemia, Hemolytic, Autoimmune/diagnosis , Anemia, Hemolytic, Autoimmune/drug therapy , Child , Humans , Immunoglobulins, Intravenous/therapeutic use , Infant, Newborn , Purpura, Thrombocytopenic, Idiopathic/complications , Purpura, Thrombocytopenic, Idiopathic/diagnosis , Purpura, Thrombocytopenic, Idiopathic/drug therapy , ThrombocytopeniaABSTRACT
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.
Subject(s)
Acute Febrile Encephalopathy , Basal Ganglia Diseases , Diagnosis, Differential , Acute Febrile Encephalopathy/diagnosis , Basal Ganglia Diseases/diagnosis , Basal Ganglia Diseases/drug therapy , Basal Ganglia Diseases/genetics , Humans , Infant , Magnetic Resonance Imaging , Membrane Transport Proteins/genetics , Membrane Transport Proteins/therapeutic use , Thiamine/therapeutic useABSTRACT
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.
