ICNC Abstracts, ICNC 2018

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Clinical clues in etiological diagnosis of childhood ataxia

Last modified: 2018-09-09


Introduction- Childhood ataxia can have varied etiology, both inherited and acquired. A well framed clinical approach and organized differential can make assessment of a child with ataxia simple.

Materials and method-. A retrospective analysis of hospital record was done on 49 children who presented ataxia in the last 4 years to identify important clues in history and clinical examination.

Results- Among 49 children, 65% had chronic ataxia. There was no specific gender predilection. More patients with genetic cause for ataxia gave history of consanguinity (61%) and developmental delay (48%). Important peripheral clinical features included dysmorphism (37%), abnormal head circumference (42%), short stature (22%), and skin, hair and dental changes (16%). Ophthalmic findings (61%) included presence of KF ring, conjunctival telangiectasia, visual deficit, optic atrophy, retinal pigment changes, papilledema, oculomotor apraxia, ophthalmoplegia, gaze palsy and nystagmus. Encephalopathy (12%), abnormal muscle tone (41%), abnormal reflexes (24%) and cerebellar signs (96%) were important findings of central nervous system examination. Acquired causes (37%) included structural malformation, immune mediated and post infectious cause, vascular, toxic, neoplastic and para neoplastic and deficiency disorders whereas 63% patients had genetic or metabolic etiology of ataxia. In all patients, clinical clues guided towards appropriate investigations and etiological workup.

Conclusion- A systematic clinical approach, with emphasis on useful clues on history and examination, is a prerequisite for evaluation of any patients. It is important to realize that there is no substitute to a good clinical approach and investigations can aid in diagnosis only when supplemented with appropriate clinical findings.


Ataxia, clinical clues, etiology

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