Neuropathy: Progressive Cerebellar Ataxia with Motor Neuropathy

Rishikesh reported here with chief complaints of inability to stand and walk independently with unclear speech.

His birth history is suggestive of prematurity (8 ½ months of gestation) with low birth weight of 4 ½ lbs. All his early developmental milestones were achieved late (sitting 3 years ; walking 4 ½ years ; speech 5 years). Was apparently normal till 1995 (12 years) when he had a episode of right focal fits. Subsequent EEG was abnormal and showed post – ictal slowing. Subsequently he developed imbalance while walking and tendency to fall and injuring himself. Was diagnosed as a case of athetoid CP with mental retardation. Repeated EEG in 1996 was normal. His motor and sensory nerve conduction study in 1998 was suggestive of motor neuropathy with evidence of axonal degeneration and segemental demyelitnation His further NCV study in August2000 was suggestive of worsening of the neuropathy. His MRI study in 1998 was suggestive of mild to moderate crebellar atrophy.

On examination hypotonia was found in all 4limbs. Functionally truncal ataxia was observed and tend to fall on one side while sitting and supported standing. No independent standing and walking was possible. His speech was slurred. His general understanding skill was fair with intact bladder / bowel control.

Improvements noted with 3 ½ years of G – Therapy :

His NCV study done on Oct. 2001 is suggestive of right common peroneal response is now present though delayed ; the right median response has become normal.
Better mid line orientation now, clap better now.
Comes independently to supported standing position holding on to the grills at home.
Can cut his nails independently now.
Speech has became more clear now.
Can tie his shoelaces also now.
Better supported standing balance now.