Resumen

LIMA, Marcos M et al. Hemihiperplasia aislada: A propósito de un caso. Rev. Venez. Endocrinol. Metab. [online]. 2011, vol.9, n.2, pp.79-84. ISSN 1690-3110.

Objective: The objective of this paper is to divulge a case of isolated hemyhiperplasia. Clinical Case: A seven-year old schoolgirl with pathological history of Wilms’ tumor, diagnosed at 11 months, was referred to the Endocrinology Unit of Los Andes University Hospital because of congenital asymmetry of right hemicorpus. At clinical examination she exhibited: weight 25.5 kg (P75-90); height 137 cm (>P97); body mass index 13.6 kg/m2 (P25-50); arm span 135 cm; asymmetrical facies; broad radix and nasal bridge; asymmetrical nostrils; thick lips; high palate; asymmetry of the tongue; gingival enlargement; pubic hair and breasts at Tanner stage I; asymmetrical labia majora; unequal length of lower extremities, the right lower limb measuring 74 cm and the left, 70.5 cm; scoliosis and scapular asymmetry. X-ray of left hand and wrist yielded bone age of 8 years. Pelvic ultrasound evaluation revealed uterine length of 1.4 cm, anteroposterior diameter of 0.8 cm, and transverse diameter of 1.7 cm with no alterations. Conclusion: Patient was diagnosed with hemihyperplasia, an asymmetrical growth of one or more regions of the body, whose incidence is estimated at one in 86,000 live births. This condition is sporadic and occurs as a result of alterations at 11p15, mainly due to paternal uniparental disomy or L1T1 and H19 methylation abnormalities, which can cause IGF-2 overexpression, resulting in excessively tall stature and greater propensity to malignant embryonic neoplasia such as Wilm’s tumor.

Palabras clave : hemihyperplasia; hemihypertrophy; Wilms tumor.