RESUMEN
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12-year-old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.
Asunto(s)
Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/genética , Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/genética , Calcinosis/diagnóstico , Calcinosis/genética , Anhidrasa Carbónica III/deficiencia , Anhidrasa Carbónica III/genética , Niño , Genes Recesivos/genética , Humanos , India , Mutación Missense/genética , Osteopetrosis/diagnóstico , Osteopetrosis/genética , Linaje , Mutación Puntual , Tomografía Computarizada por Rayos XAsunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/patología , Preescolar , Femenino , Glutaratos/orina , Glutaril-CoA Deshidrogenasa/metabolismo , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Monitoreo Fisiológico , Pronóstico , Índice de Severidad de la EnfermedadRESUMEN
Glutaric aciduria type 1 (GA1) is an inborn error of organic acid metabolism, where the brain is the principal organ affected with exposure to toxic metabolic product, 3-hydroxyglutaric acid (3-OHGA). A 2-year-old boy with GA1 and delayed developmental milestones had an acute neurological crisis leading to massive brain abscess with Citrobacter freundi infection, a rare cause of neonatal meningitis and often associated with brain abscess. Both 3-OHGA and C. freundii can damage the blood-brain barrier and can cause significant trauma which demands immediate and appropriate management. Encephalopathic manifestations of GA1 may consequently increase the risk of meningeal infection and it has not been previously documented.
Asunto(s)
Antibacterianos/administración & dosificación , Absceso Encefálico/tratamiento farmacológico , Encefalopatías Metabólicas Innatas/diagnóstico , Preescolar , Citrobacter freundii/aislamiento & purificación , Diagnóstico Diferencial , Infecciones por Enterobacteriaceae/complicaciones , Glutaratos/metabolismo , Humanos , Masculino , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/genéticaRESUMEN
BACKGROUND: Wilson's disease is a treatable movement disorder with autosomal recessive inheritance which is associated with severe morbidity and mortality if not treated early. MATERIAL AND METHODS: The clinical and radiological features of 22 cases of Wilson's disease seen during January 1984 to December 1993 were analysed for clinical presentation and common radiological features. RESULTS: Among all the patients extrapyramidal features were the commonest (19/22 patients), followed closely by impaired higher mental functions (17/22 patients) and cerebellar signs (11/22 patients). In patients with onset of symptoms before 20 years, the common presentations were impaired higher mental functions, speech disturbance, dystonia and choreo-athetosis; whereas in patients with onset after 20 years cerebellar signs were commonest. The commonest CT head abnormality was basal ganglion hypodensity (10 patients) followed by brain stem hypodensity (6 patients). CONCLUSIONS: The clinical and CT scan features are evaluated and compared with reported series. Hypodensities of brain stem earlier reported a rarity, was seen in 6 out of 22 cases.