RESUMEN
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder and the most common inherited cause of hyperammonemia. Clinical manifestations are more severe in hemizygous males who often present in neonatal period. Heterozygous females may be asymptomatic until juvenile or adulthood. Fluctuating concentration of ammonia, glutamine and other excitotoxic amino acids result in a chronic or episodically recurring encephalopathy. The authors report a heterozygous female with OTC deficiency who presented with recurrent encephalopathy.
Asunto(s)
Encefalopatías Metabólicas/dietoterapia , Preescolar , Dieta con Restricción de Proteínas , Femenino , Humanos , Hiperamonemia/dietoterapia , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/complicacionesRESUMEN
In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.
Asunto(s)
Adolescente , Adrenoleucodistrofia/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Biomarcadores , Niño , Demencia Vascular/diagnóstico , Diagnóstico Diferencial , Técnicas de Diagnóstico Neurológico , Femenino , Ataxia de Friedreich/diagnóstico , Humanos , Espectroscopía de Resonancia Magnética/métodos , Masculino , Enfermedades del Sistema Nervioso/diagnóstico , Neurocisticercosis/diagnóstico , Pediatría/métodos , Valores de ReferenciaRESUMEN
Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.