delay of motor milestones such as holding up head, rolling over, or sitting mental retardation speech delay poor muscle tone body asymmetry paralysis of one or both sides of the body poor coordination
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
Management of this condition largely depends upon the presence and severity of associated neurological and physical problems
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
Neurological symptoms in patients affected with LBD include extrapyramidal features early in the disease. The extrapyramidal symptoms in LBD can be differentiated from other dementias such as Parkinson's disease
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
Speech problems, difficulty swallowing, frequent vomiting, spasticity of the legs, ataxia, gradual intellectual decline, seizures, megalencephaly, or breathing problems.
Symptoms of focal neurological defects may include numbness, tingling, blind spots or other visual disturbance, weakness, facial drooping, or difficulty speaking.
For patients with associated neurological and/or physical problems, the treatment team may include specialists in neonatology, neurology, radiology, orthopedics, rehabilitation, and genetics. Genetic counseling may be helpful to the patient and family
Non-genetic factors such as a transient disorder of cerebral spinal fluid may also contribute to the development of megalencephaly
children and adolescents may present with neurological symptoms such as headaches, vomiting, and problems with vision. The patient may also have symptoms of double vision.