Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.

Hunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs) and multi-organ impairment. The central nervous system (CNS) is involved in at least 50% of cases. Since 2006, the enzymatic replacement therapy (ERT) is available but with no effect on the cognitive impairment, as the present formulation does not cross the blood-brain barrier.

Adolescent migraine: diagnostic and therapeutic approaches.

Migraine prevalence increases from infancy to adolescence thus suggesting the important role of adolescent somatic and emotional maturation in supporting the disease. New family and society relationship and scholastic experiences represent more or less stress moments, producing risk factors for adolescent migraine. There are few studies adequately assessing migraine treatment efficacy in adolescent attack and prevention.

Long-term outcome of epilepsy in Kabuki syndrome.

Unlabelled: PURPOSES AND METHODS: Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood.

Cord blood transplantation in patients with hemoglobinopathies.

Despite the optimization of conventional treatment, both thalassemia and sickle cell disease are still associated with significant morbidity and mortality, especially in developing countries. Allogeneic transplantation of hematopoietic progenitors is the only curative treatment and represents an attractive option for these patients. In view of the low incidence of graft-versus-host disease associated with the procedure, allogeneic cord blood transplantation (CBT) is particularly appealing for patients with non-malignant disorders.

Clinical management of short children with low serum immunoglobulin but no immunodeficiency features.

Background: In children of different ages investigated for failure to thrive, low (below the cut-off for age) immunoglobulin (Ig) values can be detected, without any clinical evidence of humoral immunodeficiencies. To better characterize infants presenting with diminished immunoglobulin levels, we studied IgG subclasses, in vitro Ig production and B cell subpopulation.

Methods: We monitored 17 children (12 boys and five girls, age range 1-18 years) with low serum levels of one or more Ig isotypes but without any clinical or laboratory features of immunodeficiency.

Short stature in children with coeliac disease.

Coeliac disease (CD) is a genetically determined gluten-sensitive enteropathy resulting in nutrient malabsorption, with an increasing incidence world-wide. Clinical presentation in early childhood may include classic malabsorption symptoms, whereas older CD children often present extra-intestinal symptoms including short stature and pubertal delay. A gluten-free diet (GFD) generally leads to a rapid catch-up in growth and to normalization of the pituitary function.