Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated part of a syndrome. Briefly, we will review the physiology pathophysiology thyroid gland its disorders. The aim this chapter is to describe abnormalities gland.

Inherited metabolic disorders, also referred to as inborn errors of metabolism (IEM), are a group of congenital disorders caused by mutation in genomic or mitochondrial DNA. IEM are mostly rare disorders with incidence ranging from 1/50,000-1/150,000), however in total IEM may affect even 1/1000 people. A particular mutation affects specific protein or enzyme that improper function leads to alt...

OBJECTIVE To systematically review the evidence concerning the diagnostic yield of genetic and metabolic evaluation of children with global developmental delay or intellectual disability (GDD/ID). METHODS Relevant literature was reviewed, abstracted, and classified according to the 4-tiered American Academy of Neurology classification of evidence scheme. RESULTS AND CONCLUSIONS In patients ...

Children with epilepsy often manifest comorbid conditions, some causally related to the seizure activity (eg, congenital malformation, injury, metabolic disturbance, tumors) and others due to the epilepsy treatment (eg, behavioral complications due to antiepileptic drugs [AEDs]). Repeated seizure activity is associated with cognitive regression, behavioral disturbance, social disability, and sl...

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. B...

Several congenital disorders may cause neutropenia. The recent advances in the field of molecular biology have facilitated our knowledge concerning pathophysiological mechanisms leading to these disorders. The molecular basis of disorders with defective myelopoiesis (severe congenital neutropenia and cyclic neutropenia) and disorders due to defective RNA processing (Shwachman Diamond syndrome a...

THE treatment of cardiac emergencies in infancy is concerned mainly with the treatment of cardiac failure, cyanotic attacks. arrhythmias and cardiac arrest. The vast majority of infants requiring such treatment have some underlying congenital cardiac abnormality. Cardiac failure, if not associated with a congenital heart lesion, may be due to infections acquired in the perinatal period, such as...