Neurological Syndromes Case 37

Onset about 1 week old:

Respiratory disturbance (apnea, breathing difficulty, hyperventilation on exam or history)
Hepatomegaly
Lethargy or extreme drowsiness
Hypotonia (low muscle tone)
Metabolic acidosis (low pH, low HCO3)
Ammonia high in serum (hyperammonemia)
Neutropenia (leukopenia, granulocytopenia, white blood cells decreased)
Thrombocytopenia (low platelets)
Ketonuria (ketosis) pronounced

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