This article presents the clinical and pathological findings presenile 3 patients who died between 4 and 9 1/2 months of the start of a osteotendinous subacute disease characterized clinically by desarroll0 progressively faster, mental deterioration, generalized rigidity , hyperreflexia and tremor of the fingers . One patient , who also showed signs of bilateral Babinski , also showed sintomotoloqía of cerebellar dysfunction and in another of them the clinical examination revealed a type cerebral blindness . In all three cases the cerebro spinal fluid was normal characteristics ; electroencephalogram suggested diffuse cerebral dysfunction and pneumoencéfalograma showed moderate but generalized ventricular enlargement . At pathologic examination , the three brains were externally negatives and coronal sections of them , only showed a moderate dilatation of the lateral ventricles . Micro...

Clinical , biochemical, and pathological changes affects infants 4 keto aciduria a designated disease called "maple syrup" are described , this disease results from a genetically induced defect , the metabolism of amino acids open chain , leucine, isoleucine and valine and is clinically characterized by early presentation, usually shortly after birth, anorexia, vomiting , irritability, delayed mental and motor development with the consequent disappearance of the Moro reflex , hypertonia generalized extensor , seizure type epileptiform and mainly by the elimination of urine with a peculiar , aromatic , pleasant odor that has been compared to the smell of maple sugar syrup ( maple syrup ) . Biochemically , the disease is characterized by an increase in plasma and urinary levels of leucine , isoleucine and valine and an associated increase in the respective keto acids in the urine ; all pro...