Two Brothers with Congenital Pancreatic Exocrine Insufficiency, Neutropenia and Dysgammaglobulinaemia

Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.

“…By the age of 4 years the ribs of both our patients had returned to normal, but metaphyseal dysostosis had become apparent. All The dys-y-globulinaemias described have involved a reduction in IgA levels in all but one case, while low levels of IgG or IgM were found in 4 cases (Hudson and Aldor, 1970;Doe, 1973;McLennan and Steinbach, 1974). The patient described here shows a more complete IgA deficiency than previously described, and the other patients in the This report illustrates the broad spectrum of this curious condition, and supports the contention that hepatic involvement should be regarded as a feature of the syndrome.…”

“…In addition to metaphyseal disturbances, abnormal tubulations of long bones, clinodactyly, phalangeal hypoplasia, and narrowing of the sacrosciatic notches have been noted. Dys-y-globulinaemia was next noted by Goldstein (1968) and has been described in 5 further patients (Doe, 1973), in each case involving a reduction in the serum concentrations of one or more of the immunoglobulins. As far as we can determine only one living patient with histological but not clinical evidence of liver dysfunction has previously been described (Bodian et al, 1964).…”

Shwachman's syndrome. A review of 21 cases.

“…The mean birthweight was 2 82 kg (range 1 76 to 4 08 kg) and 5 patients weighed less than 2 5 kg. All were born at term except Cases 11 and 15 (each 36 weeks' gestation by dates), Case 10 was a breech delivery, and Case 13 was delivered by caesarean section because of cephalopelvic disproportion. During the neonatal period 13 patients failed to thrive, 7 had diarrhoea, 10 had feeding dificulties which necessitated tube feeding in 4, and 4 were markedly hypotonic; only 5 had no neonatal abnormalities.…”