In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lymphocytes did not show increased sensitivity to mitomycin C.
Summary
1) CZP had marked effects on RD. RD disappeared in 8 (73%) of 11 patients treated with CZP alone and 6 (43%) of 14 treated with CZP in combination with other drugs. Even when RD persisted, its amplitude and frequency decreased in some patients.
2) In the group treated with CZP in combination with other drugs, RD disappeared in all 5 patients with the persistent RD, of whom 2 had arachnoid cyst. Of the 6 patients with frequent seizures, 2 were subsequently diagnosed as having CPS and SPS, respectively. Patients who did not respond to CPZ included those in whom the diagnosis of BECCT should be reconfirmed, and electro‐clinical response may be also useful for diagnosing RD.
3) In patients treated with CZP alone for a short‐term treatment of BECCT, the drug administration could be discontinued only in one. A longer follow‐up study is necessary to reach a conclusion in future.
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