0071643192.pdf

PEDIATRICS
TREATMENT

■ Supportive
■ Intravenous infusion of dextrose containing solution

GLYCOGENSTORAGEDISEASES

■ Von-Gierke, Pompe, Forbes, Andersen, McArdle, and Hers Tarui
■ Often have problems with hypoglycemia
■ Many forms cause deposition in cardiac tissue leading to cardiomyopathy.

LYSOSOMALSTORAGEDISEASE

Mucopolysaccharidoses

■ Hurler’s, Hunter’s, Sanfilippo, Morquio, Maroteaux-Lamy, and Sly
■ Characterized by deposition in multiple organ systems causing characteris-
tic coarse facial features, visceromegaly, and short stature
■ Patients have a significantly increased risk of upper airway obstruction that
often makes airway management and intubation challenging.

Lipodoses

■ Gaucher, Niemann-Pick, Tay-Sachs, metachromatic leukodystrophy, Fabry,
and Krabbe
■ Characterized by various degrees of neurologic (hypotonia, optic atrophy),
bony, and liver/spleen involvement (hepatosplenomegaly)

GASTROENTEROLOGY

Congenital Disorders

TRACHEOESOPHAGEALFISTULA(TEF)

Tracheoesophageal fistula is the most common cause of esophageal obstruc-
tion in neonates. During embryonic development, the trachea and esophagus
normally separate and develop in linear fashion. When a TEF is present,
there is an abnormal communication between the trachea and the esophagus.
The most common type of TEF (90%) results in the proximal esophagus ter-
minating in a blind pouch, while the distal esophagus communicates with the
trachea (see Figure 5.15).

Distal

esophagus

TEF

Proximal blind

esophageal

pouch

Trachea

FIGURE 5.15. Most common type of TEF.