ABSTRACT
No disponible
Subject(s)
Humans , Male , Infant , Illicium/toxicity , Neurotoxicity Syndromes/epidemiology , Plants, Medicinal/toxicityABSTRACT
La distonía sensible a L-dopa secundaria a déficit de GTP ciclohidrolasa 1 es una enfermedad con herencia autosómica dominante (AD) con penetrancia incompleta causada por mutaciones en el gen guanosina trifostato (GPT) ciclohidrolasa 1 (GTP-CH1). Se incluye dentro de los errores congénitos de los neurotransmisores, interviniendo en el metabolismo de la dopamina. Es la distonía con mejor respuesta al tratamiento con L-dopa. Presentamos el caso clínico de una niña de 7 años que inició un trastorno de la marcha causado por distonía del miembro inferior derecho, con empeoramiento a lo largo del día. Los estudios complementarios (laboratorio, neuroimagen) fueron normales. Se inició tratamiento de prueba con levodopa, con mejoría espectacular a dosis bajas. Estudio metabólico en LCR: niveles muy disminuidos de neopterina. El diagnóstico se confirmó genéticamente al encontrarse una mutación en el gen GTP-CH1 (p.W96X, cambio nucleótido c.287G>A). Después de un año de tratamiento con levodopa asociado a un inhibidor de decarboxilasa, existe resolución casi completa de síntomas sin efectos adversos (AU)
GTP cyclohydrolase 1-deficient dopa- responsive dystonia is an autosomal dominant disorder caused by mutations in the guanosine triphospate (GTP) cyclohydrolase 1 gene (GTPCH1) with incomplete penetrance. This gene is involved in the synthesis of dopamine. It is the dystonia with clinically significant response to levodopa within the group of neurotransmitter inborn errors. We report a case of seven years old female. Her initial symptoms were gait difficulties caused by right foot dystonia with aggravation of symptoms toward the evening. The laboratory studies and neuroimaging were normal. A therapeutic trial with levodopa was started with a dramatic response to low doses. Concentrations of total neopterin (NP) in cerebrospinal fluid (CSF) were reduced. Mutation analysis of the gene GCH1 confirmed the disease (p.W96X, nucleotide change c. 287G>A). After one year of levodopa therapy, we obtained maximum benefit with levodopa/decarboxylase inhibitor with absence of adverse effects (AU)
Subject(s)
Humans , Female , Child , Dystonic Disorders/complications , Dystonic Disorders/diagnosis , GTP Cyclohydrolase/administration & dosage , Levodopa/deficiency , GTP Cyclohydrolase/administration & dosage , Dystonia/complications , Dystonia/pathology , Cerebrospinal Fluid/metabolism , Mutation/genetics , Levodopa/therapeutic use , Dystonic Disorders/therapy , GTP Cyclohydrolase , GTP Cyclohydrolase/supply & distribution , GTP Cyclohydrolase/therapeutic useABSTRACT
GTP cyclohydrolase 1-deficient dopa- responsive dystonia is an autosomal dominant disorder caused by mutations in the guanosine triphospate (GTP) cyclohydrolase 1 gene (GTP-CH1) with incomplete penetrance. This gene is involved in the synthesis of dopamine. It is the dystonia with clinically significant response to levodopa within the group of neurotransmitter inborn errors. We report a case of seven years old female. Her initial symptoms were gait difficulties caused by right foot dystonia with aggravation of symptoms toward the evening. The laboratory studies and neuroimaging were normal. A therapeutic trial with levodopa was started with a dramatic response to low doses. Concentrations of total neopterin (NP) in cerebrospinal fluid (CSF) were reduced. Mutation analysis of the gene GCH1 confirmed the disease (p.W96X, nucleotide change c. 287G>A). After one year of levodopa therapy, we obtained maximum benefit with levodopa/decarboxylase inhibitor with absence of adverse effects.
Subject(s)
Dystonic Disorders/etiology , GTP Cyclohydrolase/deficiency , Child , Dystonic Disorders/enzymology , Female , HumansABSTRACT
Se comunica el caso de un niño con el síndrome de Saethre-Chotzen (acrocefalosindactilia de tipo III), una de las craneosinostosis más frecuentes, y se describe la mutación causal en el gen TWIST (AU)
It is informed of a child with the Saethre-Chotzen syndrome (acrocephalosyndactylia of type III), one of the most frequent craniosynostosis, and it is described as a causal mutation in the TWIST gene (AU)
Subject(s)
Humans , Male , Child, Preschool , Craniosynostoses/complications , Craniosynostoses/diagnosis , Craniosynostoses/epidemiology , Craniosynostoses/etiology , Craniosynostoses/surgery , Craniosynostoses/therapy , Twist-Related Protein 1 , Acrocephalosyndactylia , Acrocephalosyndactylia/diagnosis , Acrocephalosyndactylia/epidemiology , Acrocephalosyndactylia/etiology , Acrocephalosyndactylia/surgery , Acrocephalosyndactylia/therapyABSTRACT
La hiperplasia suprarrenal congénita cursa en la mujer con grados variables de virilización genital. Describimos el caso de una lactante de 3 meses que presentó además un hematocolpos (AU)
Congenital adrenal hyperplasia develops in women with varying degrees of genital virilization. We report the case of a three-month old infant who also presented with hematocolpos (AU)
Subject(s)
Humans , Female , Infant , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/complications , Hematocolpos/etiology , Diapers, InfantSubject(s)
Facies , Hypopigmentation/diagnosis , Mosaicism , Child , Female , Humans , Hypopigmentation/genetics , KaryotypingABSTRACT
No disponible
Subject(s)
Female , Child , Humans , Hypopigmentation/complications , Hypopigmentation/diagnosis , Facial Asymmetry/complications , Mosaicism/diagnosis , Mosaicism/genetics , Autistic Disorder/complications , Mosaicism/pathology , Mosaicism/physiopathology , Melanosis/complications , Cytogenetics/methods , Cytogenetic Analysis/methodsABSTRACT
No disponible
