What are the symptoms of Periventricular heterotopia ?
What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some girls with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. In the X-linked form of periventricular nodular heterotopia, affected patients are mostly females because in males the symptoms are too serious and they die before birth. The following clinical features have been reported: seizure disorder, mental problems, heart anomalies, stomach immobility, strabismus, short fingers and dyslexia. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia) which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. In the autosomal recessive form of periventricular heterotopia the disorder is severe and may include microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show any signs or symptoms of this condition.