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Kinder- und Jugendheilkunde 6. Oktober 2016

On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood

Regular monitoring and examination of more than 6000 brain-injured children over many years has more recently enabled us to identify a condition that shows strikingly consistent clinical, neurological and psychological symptoms among affected children, and defies classification as any known disorder discussed so far. Extensive studies have shown 22 girls to be affected with the syndrome.

These patients’ medical histories barely differ from the medical histories of other brain-injured children on our ward. Their genetic family history, medical history, pregnancies and delivery data are almost identical. One striking difference, however, is the higher rate of miscarriages and stillbirths prior to and after the patients’ births.

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