Diagnostic Dilemma

A child with paraparesis


Author:
Question
A 12 year old female child presented with acute onset of bilateral weakness of both lower limbs of 2months duration. Weakness started on the day of her menarche and progressed to its maximum within 10 days with history of giddiness and vertigo during 1st 2weeks. There is no history of fever / drug intake / difficulty in swallowing and speech. Her higher intellectual functions, cranial nerves, sensory system are intact. Superficial reflexes are present. Planters are not elicitable. Knee jerk and ankle jerk are exaggerated but there is no clonus, Biceps and triceps reflex are normal. Both palmar muscles are atrophied, Pes cavus is present with mild contractures of both calf muscles. She has ataxia with high stepping gait. Family History : nothing significant.

What can it be?
Expert Opinion :
We considered the diagnosis of Osteogenesis imperfecta in the child. He has been started on bisphosphonates.
Answer Discussion :
M
magdy sakr
bubble
friedrichs ataxia
20 years ago
D
dr.anand g. diwan
bubble
friedrichs ataxia with retained{exaggerated reflexes}
20 years ago

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