Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.
Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation was 86 cm (−3.95 S.D.) and weight 9 kg (−6 S.D.). He presented typical syndromic features: trigonocephaly, craniostenosis, ocular hypertelorism, left palpebral ptosis, strabismus, bilateral epicantus, short nose, micrognathia, small, low set ears, pectus excavatum, lumbar scoliosis, unique palmar crease, multiple toe malformations and cardiac malformations (ventricular septal defect). Clinical examination revealed normal genitalia. The hormonal exploration revealed normal thyroid and adrenal function with altered growth hormone and IGF1 levels. The low height and weight were explored and metabolic causes such as malabsorbtion syndromes, other chronic disease or poor nutrition were excluded. Cerebral MRI revealed small pituitary (7/6/2.5 mm) and hand radiograph showed delayed bone age (3 years). Genetic exploration described 46 XY cariotype with deletion (11) (q23,1qter), consistent with Jacobsen syndrome. Hematologically, he presented slight poliglobulia with normal platelet count. Treatment with recombinant growth hormone was initiated, justified by growth delay, SGA history and low IGF1 levels with good outcome (monthly growth rate of 0.7 cm), height of 93 cm (−3.5 S.D.) and a weight of 11.5 kg at 6 months reevaluation.
Conclusion: Intensively studied, Jacobsen syndrome is frequently associated with dysmorphic features, multiple complications and short stature. Having into consideration the rarity of the syndrome, there is a sparse number of cases treated with rGH with Jacobsen syndrome with good evolution, as seen in our case. Therefore, growth hormone treatment should be made individually, directed at understanding the risks and benefits unique to this polymorphic condition.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology