Isolated hemihypertrophy is a disorder characterised by abnormality of cell proliferation, having as consequence asymmetric growth of certain parts of the body. Aetiology is not well known and specific genetic modifications were not identified.
Authors present the case of a 10 years child, with normal somatic growth (weight 36 kg, height 138 cm, BMI 20), presenting right side isolated hemihypertrophy. The mother also presented a slight form of isolated hemihypertrophy, affecting only her left arm. The father, the sister and other close relatives were healthy.
Clinical examination revealed hemihypertrophy affecting predominantly the right arm, which showed a difference in both length and width as compared to the left arm; inferior limbs were only different in terms of circumference, not in length. At clinical exam, the child did not present dysmorphic features, nor other modifications. The syndromes with which hemihypertrophy is most commonly associated (Beckwith-Wiedemann, Proteus, Russell-Silver, Neurofibromatoza tip 1, Klippel-Trénaunay-Weber) were excluded, because the child did not present macroglossia, hipostature, café-au-lait macules or vascular abnormalities. The child did not present signs or symptoms of neoplasia and laboratory exams were in normal range. No genetic tests were performed.
It is important that the diagnosis be established as early as possible during childhood, due to the risk of tumours of embryonal origin, such as Wilms tumour or hepatoblastoma. Any child with isolated hemihypertrophy will be evaluated by periodical screening.