Growth hormone deficiency and hypobetalipoproteinemiin a patient with Kabuki syndrome: A case report

Kabuki syndrome (KS) is a rare condition characterized by facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We described a case of KS clinically diagnosed at 7 years of life based on typical facial features, neurodevelopmental delay, and growth failure; the diagnosis was genetically confirmed later on in adolescence. Endocrinology investigations performed for short stature, revealed growth hormone deficiency (GHD). The treatment with rhGH from 8 years of life, initially improved height velocity and stature, however the catch-up growth was only transient and final height was disappointing. The patient investigated also for the presence of altered lipid profile showed hypobetalipoproteinemia (HBL). At the best of our knowledge, this is the first case of KS with both GHD and genetic hypobetalipoproteinemia in the literature. This case reinforces the awareness for the necessity to take in account that in many cases syndromes can combine with different unexpected genetic conditions. (www.actabiomedica.it).