NEUROFIBROMATOSIS 1: A RARE PRESENTATION
Abstract
A14 month’s old female child brought to the emergency department with the h/o abnormal behavior, not responding to parents & right UL & LL seizures for 1hr 40min. In view of ongoing seizures & intermittent desaturation, the child was intubated & treated with multiple antiepileptic drugs as a child was resistant to primary treatment. The child has multiple café au lait spots/macules of variable size& abnormal fat pads. Right LL thinner than left LL. Cutaneous findings favor diagnosis towards NF11. MRI brain showed right cerebellar hypoplasia& MRI spectroscopy showed thalamic involvement7. Cerebellar hypoplasia is very rare in a case with NF13. NF1 associated with cerebellar hypoplasia presenting with seizures is 55.5%4. Frequently in NF1, the presence of multiple CALMs is the first feature noticed in a child & other features do not appear later childhood, delaying the diagnosis10. Early airway management in patients of NF1 presenting with seizures is lifesaving. Early detection and prompt attention to complications may reduce overall morbidity and mortality 9.
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References
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