Irregular Case of Neuroacanthocytosis


Chorea-acanthocytosis is an autosomal recessive disorder. It is a very rare disorder that is estimated to affect one thousand people worldwide. It is evenly distributed among males and females and appears to be more prevalent in Japan and French-Canadian population. Initial symptoms usually present in 20s and progresses slowly over 15-30 years. Initial presentation of Chorea-acanthocytosis may be misleading. Often patients develop cognitive or psychiatric symptoms before the neurologic manifestations. Manifestations may vary widely. Most bizarre and characteristic feature of this syndrome is orolingual dystonia that involves the lower face and tongue. This presentation may also occur in other disorders but the severity is highly significant in chorea-athetosis. Feeding dystonia is also part of this syndrome and it occurs with eating. As soon as the tongue touches the food bolus, it pushes the food out of the mouth. Additionally, self-mutilating lip or tongue biting may be seen, which resembles Lesch-Nyhan syndrome. Another associated disorder that may cause self-harm is a sum of symptoms called as rubber-man appearance, described as sudden head and trunk flexion and extensions that may cause violent head banging or dangerous falls. Parkinsonism may also develop and sometimes be the initial presentation.