[Comprehensive approach to children with cerebral palsy].

Infantile cerebral palsy is one of the most prevalent diseases and the most frequent cause of disability in paediatrics. Children with cerebral palsy have complex health care needs and often require the care of a multidisciplinary team. However, in many cases there is no paediatrician with overall responsibility for coordinating follow-up.

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

Sialidosis is a rare lysosomal storage disease caused by an α-N-acetyl neuraminidase-1 deficiency due to mutations of the NEU1 gene (6p21). Disease severity varies among patients and is linked to the level of residual neuraminidase activity in vivo. At least 40 disease-causing mutations in the NEU1 gene have been reported.

[Duchenne muscular dystrophy: Case of atypical presentation and early diagnosis].

Introduction: Duchenne muscular dystrophy is the most common form of muscular dystrophy, with an incidence of 1/3300 male live births and a prevalence rate in the total population of 3/100000 individuals. It is often hereditary (X-linked recessive) but sporadic cases are also frequent. The average age at diagnosis is 4.

[Status epilepticus in paediatrics: a retrospective study and review of the literature].

Introduction: Status epilepticus (SE) is the most common neurological emergency on pediatric. Given the possibility of neurological sequelae and mortality associated, it requires an early aggressive treatment.

Patients And Methods: Retrospective descriptive study based on the review of medical histories of patients admitted to our hospital from 2010 to 2013 with a diagnosis of SE.

[Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].

Introduction: Pompe disease/glycogen storage disease type II is a congenital metabolic disorder. It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations.