Megalencephaly (also called macrencephaly) describes an enlarged brain whose weight exceeds the mean (the average weight for that age and sex) by at least 2.5 standard deviations (a statistical measure of variation).
The incidence of megalencephaly is estimated at between 2% and 6%. There is a preponderance of affected males; megalencephaly affects males three to four times more often than it does females
Most often, megalencephaly is a familial trait that occurs without extraneural (outside the brain) findings. Familial megalencephaly may occur as an auto-somal dominant (more common) or autosomal recessive condition
Non-genetic factors such as a transient disorder of cerebral spinal fluid may also contribute to the development of megalencephaly
Manifestations may range from normal intellect, as with case of benign familial megalencephaly, to severe mental retardation and seizures, as with Alexander disease, an inherited leukodystrophy
The evaluation of a patient with suspected megalencephaly will usually consist of questions about medical history and family history, a physical exam that includes head measurements, and a developmental and/or neurological exam
According to the National Institute of Neurological Disorders and Stroke (NINDS), megalencephaly is one of the cephalic disorders, congenital conditions due to damage to or abnormal development of the nervous syst
Interventions such as speech, physical, and occupational therapy may be indicated for individuals with megalencephaly. Early intervention services for young children and special education or other means of educational support for school-aged children
Management of this condition largely depends upon the presence and severity of associated neurological and physical problems
The prognosis for babies with periventricular leukomalacia is dependent on the other complications of prematurity that a baby may face. Deficits may range from mild to devastating disability or even death.
Speech problems, difficulty swallowing, frequent vomiting, spasticity of the legs, ataxia, gradual intellectual decline, seizures, megalencephaly, or breathing problems.
The disorder typically presents as a large head circumference (distance around the head) either prenatally (before birth), at birth, or within the first few years of life
gyral abnormalities neuronal heterotopias corpus callosum dysgenesis myelum dysplasia abnormal or an excess amount of neurons abnormal or an excess amount of glia cells