A CASE OF MACROCEPHALY

This patient was brought to the clinic by her family to get a medical certificate.  They wanted to seek help from the Mayor's Office which was giving financial assistance to all disabled constituents in the city.  At first I thought the patient had hydrocephalus but when I took the medical history of the patient, I then knew that it wasn't hydrocephalus at all but a case of macrocephaly.  I was easily drawn to the child because she was pleasant.  She smiled a lot.  She can utter a few words; often times she repeated what her mother was saying.  If you notice, she also had bilateral clubfoot deformity. 

Macrocephaly is a condition which refers to the abnormal largeness of the head and brain in relation to the  rest of the body resulting to some degree of mental and growth retardation.   It is also called megalocephaly or macrocephalia.  Macrocephaly is diagnosed by when the head circumference is more than two standard deviations above average for the child's age, sex, race and period of gestation, with excessively wide fontanels, and normal facial features.

This condition may be caused by some defect in formation during embryologic development or it may be from a progressive degeneration processes such as Schilder's disease,  Greenfield's disease, or congenital lipoidosis and other chromosomal abnormalities.  In macrocephaly, there is symmetric overgrowth at the head without increased intracranial pressure as differentiated from hydrocephalus in which the lateral asymmetric growth of the head is caused by accumulation of cerebrospinal fluid usually under increased pressure.  Hydrocephalus may occur because of Chiari malformations, abrormal cysts within the brain and infections such as meningitis.

Macrocephaly is usually diagnosed by the pediatrician following physical examination, in some cases this may be the only diagnosis necessary.  Some children may require CAT scan, x-ray and MRI to determine the cause of macrocephaly and the appropriate treatment.
There is no specific treatment for macrocephaly.  Medical care for children with macrocephaly focuses on management of specific symptoms such as developmental delays and mental retardation and treatment of the primary diagnosis responsible for the macrocephaly.

For children with benign familial macrocephaly, the prognosis is excellent.  These children have normal intelligence and have no other complications.  Unfortunately, many children with macrocephaly experience delayed development, slow growth, seizure disorders, and limited intelligence. (Our patient M.M. belongs to this category.)  For the other children who have macrocephaly, the prognosis is dependent on the cause.