Causes, Symptoms and Treatment of Microcephaly

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What is Microcephaly?

"Microcephaly" is commonly referred to as "small head." It is a form of cephalic condition (disorder of the head). Microcephaly is sometimes discussed in conjunction to microencephaly, which is characterized by "small brain". This is because the head size is usually determined by the brain size. In general, genetic factor has been detected to be the prime cause of microcephaly in some cases. Microcephaly disorder is also indirectly linked to the chromosomal deletions, and schizophrenia.

Microcephaly is a medical disorder which is characterized by the smaller than normal circumference of head due to the improper development of the brain or due to an abrupt halt of growth. Microcephaly can occur at birth or during the initial years of growth phase. Newborns with microcephaly apparently present with an abnormal, small head that subsequently fails to develop further during the phase of infancy.


What causes microcephaly?

Microcephaly is commonly caused by the abnormal genes that inhibit the normal development of cerebral cortex especially during the initial stages of fetal growth. The condition is often accompanied by the chromosomal syndromes like Down's syndrome, including other neurometabolic syndromes. In contrary, a new born infant can present with microcephaly if the mother experienced any of the following conditions during pregnancy as mentioned below:

Drug abuse or increased alcohol consumption leading to fetal alcohol syndrome

Had any of the conditions like diabetes or untreated phenylketonuria (PKU).

Was infected with any of the infections like: rubella (German measles), cytomegalovirus, or varicella (chickenpox) virus

Had been exposed to radiation or certain toxic chemicals

What are the symptoms of microcephaly?

The Microcephaly symptoms usually vary as they depend upon the severity of the associated syndrome. Although, the symptoms are specific to each patient however some of the commonly encountered symptoms of microcephaly by children include: delayed speech and impaired motor functions; mental retardation; hyperactivity; facial distortion; seizures; dwarfism or short stature; coordination problem and difficulty to maintain balance; abnormalities of the brain including neurological system; hyperactivity and convulsions.

Newborns with microcephaly present with prominent neurological birth defects and seizures. Infants can be either born with decreased or normal head size. The smaller skull becomes more prominent when the child grows. Although, it is commonly associated with severely impaired intellectual function however disturbed motor function becomes apparent only during later life.


In some cases, affected children can present with normal intellectual skills and the bigger grown head fails to attain normal circumference during growth phase. Eventually, the face gradually develops at a normal rate while the head remains the same thus giving an appearance of receding forehead and a smaller head with a loose, wrinkled scalp. In addition, the affected children remain underweight and dwarf thus leading to an abnormal appearing body. Although, normal development of speech and motor function remains delayed however motor dysfunction varies from clumsiness to spastic quadriplegia.

How is the Microcephaly diagnosed?

Microcephaly is usually diagnosed by physical examination as the newborns present with prominent facial features. Certain signs can be diagnosed through observation which include flattened back part of the skull, prominent forehead, and closed or small fontanels (the normal spots present between the skull and the bones). Prenatally, it can be diagnosed by an ultrasound while it can be diagnosed during postnatal period by measuring the circumference of the infant's head.

How is microcephaly treated?

Currently, no treatment has been proposed to return a child's head size or shape to normal. Treatment is aimed at reducing the severity of the associated dysfunctions and neurological disabilities. A pediatric neurologist evaluates the microcephaly affected children as a result of delayed growth and an appropriate treatment course will be recommended by the physician. Dysfunction and neurological disabilities can be managed with the aid of early childhood intervention programs provided under the guidance of speech, physical, and occupational therapists. Medications are usually prescribed to control hyperactivity, seizures, and neuromuscular symptoms. As a preventive measure, genetic counseling can be helpful to couples as it promotes the awareness of microcephaly when planning to conceive in future.

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What is the treatment prognosis?

Some cases present with mild disability whereas other cases continue to grow with normal intellectual skills and the latter are more likely to come across with usual age related setbacks.

References:

http://www.medicinenet.com/microcephaly/article.htm

http://www.healthscout.com/ency/1/369/main.html#treatment

http://en.wikipedia.org/wiki/Microcephaly

http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm

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Dr Chaitra S's picture
Author: Dr Chaitra S

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