Maggio 2004 - Volume XXIII - numero 5
Pagine elettroniche
UO Pediatria, *UO Dermatologia, Ospedale di Lucca
Key words: Convulsions, Connective tissue disorders, Hair abnormalities, Menkes disease
The Authors described a case of a newborn affected by Menkes disease (MNK) with convulsions, connective tissue disorders and hair abnormalities. MNK is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. Subcutaneous injections of copper-histidine complex, which currently forms the accepted mode of treatment, prevent the neurological degeneration in some patients when the treatment is initiated soon after birth. However, when the treatment is started later, the neurological degenerative processes are not prevented. Moreover, the treatment does not improve the connective tissue disorders.
Vuoi citare questo contributo?
