Useful Info
Did You know?    

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease.   While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers.  Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others arent diagnosed until after death.

Mitochondrial Disease
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

source= The United Mitochondrial Disease Foundation



Neurologic emergencies
Recognizing a neurologic insult in neonates may be difficult. The clinical
symptoms may be nonspecific. The history may reveal only a change in feeding
pattern or subtle behavioral changes. A useful mnemonic to recall the broad
differential diagnosis of a neonate with altered mental status, ‘‘THE MISFITS,’’
is outlined in Box  Keeping this mnemonic in mind as well as a high index of
suspicion during the initial history and physical examination (non) will help
guide the evaluation and management
 Causes of altered mental status in a neonate: THE MISFITS

T–Trauma (nonaccidental and accidental)
H–Heart disease and hypovolemia
E–Endocrine (eg, congenital adrenal hyperplasia and thyrotoxicosis)
M–Metabolic (electrolyte imbalance)
I–Inborn errors of metabolism
S–Sepsis (eg, meningitis, pneumonia, and urinary tract infection)
F–Formula mishaps (eg, under- or overdilution)
I–Intestinal catastrophes (eg, volvulus, intussusception, and necrotizing enterocolitis)
T–Toxins and poisons

Dr Archibald Edward Garrod

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