Very Rare Neurological Disorders in Infants

Very Rare Neurological Disorders in Infants
Photo Credit the newborn image by Sergey Galushko from Fotolia.com

Neurological disorders affect many newborns. Many neurological diseases are congenital, meaning that they are present before birth. Inherited inborn errors of metabolism, chromosomal abnormalities and genetic disorders can all cause neurological problems. Exposure to viruses during pregnancy can also cause neurological disorders. Some neurological disorders are relatively common, such as cerebral palsy; others are very rare.

Galactosemia

Galactosemia is an inherited disorder that inhibits breakdown of a simple sugar called galactose, made up of two sugars, lactose and glucose. Galactosemia occurs in 1 in 60,000 births. Newborns given lactose, the sugar found in milk, have a buildup of substances from galactose. Symptoms occur within a few days after birth, and include convulsions, irritability, poor feeding, poor weight gain, lethargy, jaundice and vomiting, Medline Plus states. Infection with E. coli bacteria may occur. Babies with galactosemia cannot ingest any milk products, including breast milk. Substituting soy milk, meat-based formulas, Nutramigen and other lactose-free formulas reduces brain, liver, kidney and eye damage, although some mental deficiencies may still develop.

Maple Syrup Urine Disease

MSUD, an inherited genetic disorder that interferes with breakdown of three amino acids, affects around 1 in 180,000 pregnancies, the University of Utah reports. Another group of six amino acids normally breaks down the three amino acids, leucine, isoleucine and valine, but a mutation in any one of the six amino acids, usually found on chromosome 19, allows amino acids to build up in the brain cells. Symptoms appear three or four days after birth and include poor appetite, irritability and sweet-smelling urine. Seizures, coma and death may result if the disease isn't diagnosed and treated.

Menkes Disease

Menkes disease, a rare X-linked recessive genetic disorder that affects mostly males, affects the gene that regulates the mineral copper in the body, the National Institute of Neurological Disorders and Stroke states. The disease causes low copper levels in the brain and liver and high levels in the intestines and kidneys. Although babies with the disorder may be born prematurely, they appear to develop normally for six to eight weeks before failure to gain weight, poor feeding, seizures and poor muscle tone appear. Temperature runs lower than normal and the baby's hair is oddly kinky, colorless or steel-colored. The hair breaks easily. Gray matter in the brain degenerates and arteries in the brain rupture or become blocked. Early treatment with copper injections can improve but not cure the condition; most children die within 10 years.

References

Article reviewed by Julie Mendenhall Last updated on: Mar 13, 2011

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