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undiagnosed anterior horn cell disease
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undiagnosed anterior horn cell disease

hello

i have a 7 months old son, born at 36 weeks by emergency caesarean section for prolonged unreactive CTG and antenatal history of polyhydramnios. Our family history includes a female sibling who died at age 2 months with severe hypotonia and hyporeflexia since birth, but she was never diagnosed.
My son required significant cardiac and respiratory support from birth, his inotropes were weaned off within 72 hours, he remained ventilator dependent. He is presenting with profound hypotonia and hyporeflexia with paucity of spontaneous movements. Motor response to stimulation are extremly limited and not against gravity.
The following tests were performed : EMG suggested anterior horn cell disease, MRI showed unremarkable brain parenchymal appearances, spinal cord appearance was normal with borderline low termination at L2/3 level ; muscle biopsy reported non specefic changes and increased variation in fibre size of small and large fibres, no features suggesting mitochondrial myopathy; genetic testing for SMA and SMARD genotype was negative.

and untill today he is not diagnosed.
I would be greatfull if you would recommend any further testing or if you think of a diagnosis that matches his condition.
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