Cerebellar ataxia in childhood: a review of clinical features, investigative findings and aetiology in 30 cases

Abstract

The symptoms, neurological deficits and aetiology of cerebellar ataxia were reviewed in 30 children aged from 4 to 16 years, who had been extensively investigated. Fourteen (46.6%) children had perinatal problems, and in 6 (20%), ataxia resulted from these perinatal events. Besides unsteady gait, a common presenting complaint was delayed motor milestones, noted in 15 (50%) patients. In most children (76.6%), clinical examination indicated involvement of more than one of the three main cerebellar divisions, viz archicerebellum, paleocerebellum and neocerebellum. Hypotonia, found in 11 (36.6%) children, was the third most common sign after gait and truncal ataxia. A variety of aetiological factors was identified, the two most frequent being hydrocephalus in 7 (23.3%) children, and perinatal problems in 6 (20%). The findings are discussed against the background of current literature on the subject.

PIP: A pediatric neurologist analyzed the case histories of 30 4-16 year old children diagnosed with cerebellar ataxia in the pediatric neurology unit at the Royal Hospital for Sick Children in Edinburgh, Scotland to examine its clinical features, investigative findings, and etiology. Previous unfavorable events happened to 14 children (46.6%). Yet only 6 (42.8%) of these 14 children had unfavorable events of etiological significance. These previous unfavorable events occurred during the perinatal period (48%). These events in order of significance were asphyxia, prematurity, neonatal jaundice, and trauma. 66.6% of all children had an unsteady gait. The 2nd and 3rd most common signs of cerebellar ataxia were truncal ataxia (53.3%) and hypotonia (36.6%). The next most common symptom was considerable delay in reaching gross motor milestones (50%) such as not sitting until 2 years old. 23 (76.6%) of the children had dysfunctions in 1 of the cerebellar divisions. Clinical examination found dysfunctions most often in the paleocerebellum (86.6) followed by the neocerebellum (70%) and archicerebellum (56.6%). The paleocerebellum and the archicerebellum were the only divisions involved in 6 and 1 of the remaining children, respectively. The most common cause of ataxia was hydrocephalus (23.3%) followed by perinatal problems (20%). 70% of the patients also experienced other central nervous system conditions such as macrocephaly and mental retardation. 5 children had normal investigative findings, 3 of whom had cerebellar ataxia syndrome, 1 had congenital ataxic cerebral palsy, and 1 had familiar ataxia.