Журнал клинических случаев

Report Case of Van Der Knaap Syndrome in Two Ecuadorian Siblings

Abstract

Moncayo JA

Van Der knaap syndrome is a very uncommon disease seen mainly in the Aggarwal community in northern India. The characteristics of this disease are early onset macrocephaly with mild motor developmental delay, progressive gait alterations, muscular stiffness (spasticity), progressive ataxia, sporadic seizures and usually mild cognitive impairment (MCI) which is of late appearance. Only a few cases of this pathology have been reported in worldwide literature. for the knowledge of all, there are no reports so far of two siblings of parents in which there is apparently no Indian descent or consanguinity. In this case the brothers started with abnormal growth of the cephalic perimeter, difficulty to start the march which progressively got worse, muscular stiffness was developed while intellectual functioning was preserved for several years after onset of the disorder. Was more notorious in one of the two brothers in terms of motor and speech deficit.