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Microcephaly

Microcephaly is a neurological disorder in which the circumference of the head is smaller than average for the person's age and gender. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. A mutation of the ASPM gene causes autosomal recessive primary microcephaly. more...

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Infants with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and mental retardation are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others.

Generally there is no specific treatment for microcephaly. Treatment is symptomatic and supportive.

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

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  • NEONATOS CON FACIES NORMAL E IgM SÉRICA ELEVADA

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Microcephaly
From Gale Encyclopedia of Childhood and Adolescence, 4/6/01

Microcephaly can be caused by genetic and chromosomal abnormalities, or by environmental factors such as prenatal radiation exposure, prenatal infections (rubella , toxoplasmosis), and maternal drug use. Women with phenylketonuria (PKU) who do not maintain a low-protein diet during pregnancy are also at risk for having babies with microcephaly.

Microcephaly is occasionally obvious at birth, particularly if the fontanelle, or soft spot, is closed. It is typically diagnosed by measuring the circumference of the baby's head. Sometimes this measurement can be taken in utero through ultrasound waves. The child's physical growth is usually retarded, and he or she suffers delays in speech and mental development. Some children have seizures, crossed eyes, and spastic paralysis.

The treatment for a microcephalic child is essentially therapeutic, depending on the attending disabilities. The parents may need to learn special feeding techniques if the child's swallowing techniques are underdeveloped. Physical therapy can improve the child's coordination and strengthen or relax the muscles. Seizures and involuntary movements can be prevented by drugs such as anticonvulsants and muscle relaxers. Wheelchairs and orthopedic devices can aid mobility. Speech therapy can help the child to overcome communication difficulties.

Further Reading

For Your Information

  • Gale Encyclopedia of Childhood & Adolescence. Gale Research, 1998.

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