[MS4-2D-1] Approach to Neurometabolic Diseases from a Pediatric Neuroradiology Point of View
Neurometabolic disorders are an uncommon but important group of disease that mostly secondary to abnormalities in synthesis, transport, and turnover of dietary and cellular component.
Neurological manifestations are prominent signs and symptoms in this group of diseases, like seizures, that usually do not help in narrowing the differential diagnoses. But specific symptom or clinical sing might be typical in certain disorders. Typically eye exam, skin exam and assessment for hepatomegaly should be provided during reviewing MRI studies.
This will help us recognizing imaging patterns for most common disorders in each group.
Genetic condition à enzyme deficiency and metabolism problemOverall incidence: 1: 1,000 – 2,500 newborns
Higher incidence in certain ethnic population: Ashkenazi JewsImaging is typically bilateral and symmetric, with progressive functional deterioration without treatment.
Neurological manifestations are prominent signs and symptoms in this group of diseases, like seizures, that usually do not help in narrowing the differential diagnoses. But specific symptom or clinical sing might be typical in certain disorders. Typically eye exam, skin exam and assessment for hepatomegaly should be provided during reviewing MRI studies.
This will help us recognizing imaging patterns for most common disorders in each group.
Genetic condition à enzyme deficiency and metabolism problemOverall incidence: 1: 1,000 – 2,500 newborns
Higher incidence in certain ethnic population: Ashkenazi JewsImaging is typically bilateral and symmetric, with progressive functional deterioration without treatment.