Diagnostic Dilemma


A 5 years boy born of non-consanguineous marriage presented with ataxia, frequent falls during walking and weakness of lower limbs for 1 year. Mother also noticed intermittent tremulousness of lower limbs for 15 days. There was no history of fever, seizures, cranial nerve or focal neurological deficits. There was no headache, vomiting or similar history in the family. Birth history and motor milestones are normal. The speech was slurred and not recognizable. On examination, the child had hypertonia in lower limbs with normal power and brisk reflexes in the lower limbs. He had cerebellar signs in form of dysdiadokinesis, past pointing, and ataxic gait. There were no cranial nerves or focal neurological deficit. Investigations showed normal hearing and fundus examination. CT brain was suggestive of cerebellar atrophy. EMG/NCV was normal.

What is the differential diagnosis?
Expert Opinion :
This child has presented with cerebellar signs and signs of pyramidal tract involvement in form of hypertonia and brisk reflexes suggestive of white matter involvement. Hence one would consider a differential diagnosis of a fourth ventricle space occupying lesion (SOL) or a metabolic disorder that has involvement predominantly of white matter and the cerebellum such as an infantile variety of Neuronal Ceroid Lipofuscinosis (NCL) (presents with ataxia and seizures) or mitochondrial disease. Other white matter diseases such as metachromatic leukodystrophy, Krabbe’s disease, adrenoleukodystrophy are unlikely as they are associated with optic atrophy, peripheral neuropathy, and neuroregression. Familial varieties of cerebellar ataxia are unlikely as the age of onset is too early and there is no positive family history except for Marinesco-Sjögren (presents with mental retardation, cataract, hypotonia, myopathy) and infantile-onset spinocerebellar ataxia (presents with peripheral neuropathy, athetosis, optic atrophy, deafness, ophthalmoplegia) which present in infancy. However, the child does not seem to fit into any of these hereditary ataxias.
Thus in this child neuroimaging in form of MRI would be required to delineate the white matter changes. MRI brain showed cerebral and cerebellar atrophy with a hyperdense abnormality in the deep cerebral white matter at lateral ventricle margin suggestive of either NCL or mitochondrial disease.
Answer Discussion :
Gerardo Meja
I think is a genetic condition like Friederiech or another condition with cerebellar compromise.
5 years ago
mohd ajmal
5 years ago

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