Síndrome de pendred: A propósito de un caso
Rev. venez. endocrinol. metab
;
12(3): 200-203, oct. 2014. ilus
Article
in Spanish
|
LILACS-Express
| LILACS
| ID: lil-740366
RESUMEN
Objetivo:
Presentar caso clínico de Síndrome de Pendred, patología poco frecuente en la edad pediátrica que engloba sordera congénita y bocio. Caso clínico Preescolar femenina de 5 años y 4 meses, cuya madre refiere enfermedad actual de 3 meses de evolución caracterizada por presentar aumento progresivo de volumen en cara anterior de cuello, sin cambios de coloración, ni temperatura, no doloroso, concomitantemente somnolencia, estreñimiento e hipoactividad. Examen Físico Peso 14,700 Kg (Conclusión:
La prevalencia del Síndrome de Pendred se reporta alrededor de 7,5%. Probable subdiagnóstico, lo cual debe evitarse, considerando que se trata de una patología con carácter autosómico recesivo que amerita tratamiento y consejo genético oportuno dadas las implicaciones en el desarrollo psicomotor y el riesgo de recurrencia en la descendencia.ABSTRACT
Objective:
To present a clinical case of Pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. Clinical case Preschool female 5 years and 4 months of age, whose mother refers disease of 3 months of evolution characterized by progressive increase in volume of the anterior neck, without redness, heat, or pain; concomitantly drowsiness, constipation and hypoactivity. Physical Examination Weight 14.700 Kg (results:
TSH 24.20 mIU/mL, FT4 0,426 ng/dL. Anti TPO and anti-tiroglobuline antibodies negatives. Total cholesterol 234 mg/dL. Greulich and Pyle bone age 2.5 years (chronological age 5.3 years). Thyroid ultrasound globular appearance of the thyroid gland, diffuse parenchymal, hypervascularization, right lobe of 4.35 cc, and left lobe of 4.50 cc. Perchlorate Test 38% of radioactive iodine discharge (Positive). Pendred syndrome is diagnosed and treatment is initiated with levothyroxine 25 μg every day..Conclusion:
The prevalence of Pendred syndrome is reported around 7.5%. There is probably subdiagnosis, which should be avoided, considering that it is an autosomal recessive disease that requires treatment and appropriate genetic counseling, given the implications on psychomotor development and recurrence risk in the offspring.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Risk factors
Language:
Spanish
Journal:
Rev. venez. endocrinol. metab
Journal subject:
Nutritional Sciences
/
Endocrinology
Year:
2014
Type:
Article
Affiliation country:
Venezuela
Institution/Affiliation country:
Universidad de Los Andes/VE
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