Clinical Case # 2: GENETICS Female 18 years old who is admitted to the Intensive

Question

Clinical Case # 2: GENETICS

Female 18 years old who is admitted to the Intensive Care Unit due to the presence of epilepsy. Collecting data from the medical history describes the patient's history of seizures since the age of 16, with changes in behavior since that age, use of cannabis since 11 years and cocaine from 16 to 18 years of age . As relevant data in the family history refers that mother died at 37 years in a psychiatric hospital diagnosed with epilepsy and chorea of Huntington. Maternal grandfather clinically diagnosed with Huntington's chorea. Maternal aunts in psychiatric treatment, with tremors in limbs, one with seizures. Based on the data provided the patient could also be taking the diagnosis of Huntington's Korea.

1)What mechanism would explain the onset of the symptoms of the disease at an early age?

2)Huntington's chorea is a disease produced by trinucleaseotide expansion, Mention other diseases that are produced under the same mechanism

Caso Clinico #2 Femenina de 18 anos de edad la cual es ingresada en Unidad de Cuidados Intensivos por presentar estado epiléptico. Al recoger los datos de la historia clinica se describe que la paciente tiene antecedentes de episodios convulsivos desde los 16 anos, con cambios en comportamiento desde esa edad, uso de cannabis desde los 11 anos y de cocaina desde los 16 hasta los 18 anos de edad. Como datos relevantes en la historia familiar se refiere que madre fallecio a los 37 anos en hospital psiquiatrico diagnosticada con epilepsia y corea de Huntington Abuelo materno diagnosticado clinicamente con corea de Huntington. Tias maternas en tratamiento psiquiatrico, con temblores en extremidades, una con convulsiones. Atendiendo a los datos suministrados la paciente podria estar cursando también con el diagnostico de Corea de Huntington. iQue mecanismo explicaria la aparicion de los sintomas de la enfermedad a temprana edad? La Corea de Huntington es una enfermedad producida por expansion de trinucleeotidos, mencione otras enfermedades que estan producidas bajo el mismo mecanismo.

Explanation / Answer

1. The early onset of Huntington's can be attributed to the use of cocaine in the last legs of the brain development years (16-18 years) leading to high dopamine imbalance. This, combined with the switch from a long time used neuro-depressant to a neuro-stimulant also causes imbalance in the neuroreceptors which made the seizures appear early.

2. Some diseases caused due to trinucleotide repeat expansion are Jacobsen syndrome (CGG), Friedriech ataxia (GAA), Fragile X syndrome (CGG)

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