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What are the causes of Megalencephaly?
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
What non-genetic factors can contribute to the development of megalencephaly?
Non-genetic factors such as a transient disorder of cerebral spinal fluid may also contribute to the development of megalencephaly
What are the neurological manifestations 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
How is Megalencephaly diagnosed?
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
What kind of disorder is megalencephaly?
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
What is megalencephaly?
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).
What type of interventions may be useful for patients with Megalencephaly?
Interventions for patients with Megalencephaly may include regular monitoring of head growth, physical therapy to address motor delays, speech therapy for communication challenges, and medications to manage seizures or other associated conditions. In some cases, surgical interventions may also be considered to address specific complications related to Megalencephaly.
What is the treatment for Megalencephaly?
Management of this condition largely depends upon the presence and severity of associated neurological and physical problems
What is the prognosis for megalencephaly?
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.
What are the symptoms of juvenile Alexander disease?
Speech problems, difficulty swallowing, frequent vomiting, spasticity of the legs, ataxia, gradual intellectual decline, seizures, megalencephaly, or breathing problems.
How does Megalencephaly typically present?
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
What brain abnormalities may be present with patients with Megalencephaly?
gyral abnormalities neuronal heterotopias corpus callosum dysgenesis myelum dysplasia abnormal or an excess amount of neurons abnormal or an excess amount of glia cells
