2.6n. Neurological phenotypes


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SIMD-NAMA


Seizure disorders are very prominent. The one LSD that presents with mainly seizure disorders that can be intractable are the neuronal ceroid lipofuscinosis. The seizures can be associated with visual failure and dementia at a later age. Again extreme irritability, spasticity and regression in Krabbe Disease and neuropsychiatric diseases and Krabbe Disease and metachromatic leukodystrophy. So these are atypical forms that can present to the pediatrician as behavioural changes, psychiatric disorder, schizophrenia, hallucinations and the child or the adolescent may be sent to the psychiatrist and they may be put on antipsychotic medications and nobody really checks the brain MRI and in fact they have an LSD.

 

 

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