RESUMEN
Here, a case is presented with two rare genetic disorders, biotinidase deficiency and juvenile myelomonocytic leukemia, in a Turkish infant. This case may serve as a reminder that the diagnosis of a genetic disorder does not exclude the possibility of a second congenital but acquired disease.
Asunto(s)
Deficiencia de Biotinidasa/genética , Leucemia Mielomonocítica Crónica/congénito , Biotina/uso terapéutico , Deficiencia de Biotinidasa/complicaciones , Deficiencia de Biotinidasa/tratamiento farmacológico , Médula Ósea/patología , Consanguinidad , Insuficiencia de Crecimiento/etiología , Femenino , Genes ras , Hepatomegalia/etiología , Humanos , Lactante , Leucemia Mielomonocítica Crónica/complicaciones , Leucemia Mielomonocítica Crónica/diagnóstico , Leucemia Mielomonocítica Crónica/genética , Esplenomegalia/etiologíaRESUMEN
Glycine encephalopathy is a rare autosomal recessive metabolic disease characterized by glycine accumulation in body fluids owing to a defect in the glycine cleavage system. There are several forms of glycine encephalopathy. In the classic or neonatal form, symptoms usually develop as neurologic symptoms in the first few days of life. It characteristically presents with hypotonia, lethargy, apnea, and seizures and usually results in death by 1 year of age. In this report, we present two cases of neonatal glycine encephalopathy accompanied by isolated pes equinovarus deformity.
Asunto(s)
Encefalopatías/complicaciones , Encefalopatías/patología , Pie Equinovaro/patología , Glicina/metabolismo , Encéfalo/patología , Encefalopatías/congénito , Humanos , Recién Nacido , Imagen por Resonancia Magnética , MasculinoRESUMEN
We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.