Macrocephaly is a rare condition characterized by the child's head size that is larger than normal for sex and age and that can only be actually diagnosed at about 2 years of age, because before that the child is still developing, so that the size of the head, also called head circumference or CP, can be variable during this period.
In some cases, macrocephaly does not represent a health risk, being considered normal, however, in other cases, especially when cerebrospinal fluid accumulation, CSF, is observed, there may be delayed psychomotor development, abnormal brain size, mental retardation and seizures.
The diagnosis of macrocephaly is made as the child develops, measuring the head circumference at each visit with the pediatrician. In addition, depending on the relationship between CP, age, sex and development of the baby, the doctor may indicate the performance of imaging tests to check for the presence of cysts, tumors or CSF accumulation, indicating the most appropriate treatment if necessary.
Main causes
Macrocephaly can have several causes, most of which are linked to genetic factors, resulting in metabolic diseases or malformations. However, during pregnancy the woman can also be exposed to several situations that can compromise the baby's development and lead to macrocephaly. Thus, some of the main causes of macrocephaly are:
- Spina bifida; Infections such as toxoplasmosis, rubella, syphilis and cytomegalovirus infection; Hypoxia; Vascular malformation; Presence of tumors, cysts or congenital abscesses; Lead poisoning; Metabolic diseases such as lipidosis, histiocytosis and mucopolysaccharidosis; Neurofibromatosis;
In addition, macrocephaly can happen as a consequence of bone diseases, mainly between 6 months and 2 years, such as osteoporosis, hypophosphatemia, imperfect osteogenesis and rickets, which is a disease characterized by the absence of vitamin D, which is the vitamin responsible for absorption of calcium in the intestine and deposition in the bones. Learn more about rickets.
Signs and symptoms of macrocephaly
The main sign of macrocephaly is the head larger than normal for the child's age and sex, however other signs and symptoms may also appear according to the cause of macrocephaly, the main ones being:
- Delayed psychomotor development; Physical disability; Mental retardation; Convulsions; Hemiparesis, which is muscle weakness or paralysis on one side; Changes in the shape of the skull; Neurological changes; Headache; Psychological changes.
The presence of any of these signs or symptoms can be indicative of macrocephaly, and it is important to go to the pediatrician to have the CP measured. In addition to measuring CP and relating to the child's development, sex and age, the pediatrician also assesses the signs and symptoms, because some are related only to a certain type of macrocephaly, and can start treatment more quickly. The pediatrician can also request the performance of imaging tests, such as computed tomography, radiography and magnetic resonance.
Although the diagnosis is made mainly after 2 years of age, macrocephaly can be identified even in the prenatal period through ultrasound, so it is possible to guide the woman and family early.
How the treatment is done
When macrocephaly is physiological, that is, when it does not represent a risk to the child's health, it is not necessary to initiate specific treatment, the child's development being only accompanied. However, when hydrocephalus, which is the excessive accumulation of fluid in the skull, is also seen, surgery may be necessary to drain the fluid. Understand how hydrocephalus treatment is done.
In addition to the treatment may vary according to the cause of macrocephaly, it may also vary according to the signs and symptoms presented by the child and, therefore, psychotherapy, physiotherapy and speech therapy sessions may be recommended. Changes in diet and the use of some medications may also be indicated, especially when the child has seizures.
