RESUMEN
Budd-Chiari syndrome (BCS) is one of the uncommon complications of hepatic venous reconstruction in liver transplantation. Protein-losing enteropathy (PLE) secondary to this event has rarely been described. A 14-year-old girl suffering from acute hepatic failure underwent an emergency living-related liver transplantation and developed BCS 1 year later. Her condition has been managed with several sessions of hepatic venoplasty. On one occasion, she suffered septicemia and severe diarrhea, passing large amount of fibrinoid material. The diagnosis of PLE was made clinically, which resolved immediately after reestablishment of hepatic venous patency by balloon venoplasty. This observation suggested that BCS was responsible for PLE in this patient. Prompt diagnosis and early intervention for this life-threatening condition is essential.
Asunto(s)
Síndrome de Budd-Chiari/diagnóstico , Trasplante de Hígado/efectos adversos , Enteropatías Perdedoras de Proteínas/etiología , Adolescente , Síndrome de Budd-Chiari/cirugía , Femenino , Venas Hepáticas/cirugía , Humanos , Cirrosis Hepática/patología , Cirrosis Hepática/cirugía , Donadores Vivos , Masculino , Necrosis , Resultado del TratamientoRESUMEN
Congenital brain tumours are rare. They account for 0.5% to 1.9% of intracranial tumours in childhood and have an incidence of 0.34 per million live births. Most congenital brain tumours are neuro-ectodermal tumours and medulloblastomas; giant cell astrocytoma and other tuberous sclerosis-related tumours are rare. We report on a neonate who developed seizures that were refractory to medical treatment. Imaging studies revealed a right frontal calcified tumour. Surgical resection was performed successfully and pathology revealed the tumour to be a giant cell astrocytoma. The child was seizure-free afterwards.
Asunto(s)
Astrocitoma/congénito , Neoplasias Encefálicas/congénito , Craneotomía , Tumores de Células Gigantes/congénito , Convulsiones/cirugía , Anticonvulsivantes/uso terapéutico , Astrocitoma/complicaciones , Astrocitoma/cirugía , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/cirugía , Resistencia a Medicamentos , Electroencefalografía , Femenino , Tumores de Células Gigantes/complicaciones , Tumores de Células Gigantes/cirugía , Humanos , Recién Nacido , Convulsiones/tratamiento farmacológico , Convulsiones/etiología , Tomografía Computarizada por Rayos XRESUMEN
A rare case of familial lipoprotein lipase (LPL) deficiency in a Chinese newborn who presented with severe hyperbilirubinaemia is described. The falsely high serum bilirubin concentration was subsequently found to be a laboratory analytical error caused by interference of optical measurement of the lipaemic serum. Hypertriglyceridaemia and chylomicronaemia could be safely and effectively controlled by a fat-restricted diet using either modified elementary milk formula fortified with protein, calories and minerals, or the commercially available special milk formula such as Monogen or Portagen. DNA sequence analysis of the patient showed a Leu252Arg mutation in exon 6 of both alleles of the LPL gene. Although the parents were unrelated, both were heterozygous carriers of the same genetic defect. Codon 252 in exon 6 appears to be a common and critical site of mutation in the LPL gene of Chinese, but this important association has not been recognized previously.