Case of Schwachman's syndrome with intermittent neutropenia and lymphocyte subset disturbances
Authors: Figen Oksel, Baha Taneli
Journal: American Journal of Hematology (1997)

To the Editor: Schwachman's syndrome, a familial disease transmitted as an autosomal-recessive trait, is characterized by moderate chronic neutropenia, marked marrow hypocellularity, occasional thrombocytopenia and anemia, metaphyseal dysostosis of tubular bones, pancreatic fatty infiltration, and accompanying pancreatic insufficiency with absence of pulmonary and sweat elecrolyte pathology.Steatorrhea and growth failure are prominent.Pancreatic enzyme replacement may compensate for pancreatic insufficiency, but no therapy has been fully effective on the hematologic abnor-Fig.1.The case and the fatty infiltration of the pancreas. malities.We report on a 6-year-and-9-month-old white male with Schwachman syndrome, admitted with complaints of stunted growth, distended abdomen, and fatty diarrhea.He was Ͻ3rd percentile with a McLaren scoring of 5. His liver extended 1.5 cm below the costal margin; his right iliac-malleol encountered in the present case, as seen in the ill-defined disease of cyclic neutropenia which is characterized with fever and oral ulcers in older length was 2 cm shorter than the left.Roentgenograms revealed right femur neck shortness, acetabular hypoplasia, and infantile vertebrae.children [1].In addition, an immune-deficient state was also disclosed, with a median T4/T8 ratio of 0.40: 12% (low) T-helper and 30% T-suppressor cell Fat globules and fatty acids were positive in stool specimens and tripsin activity, and Giardia trophozoites were absent in repeated duodenal juice counts.There was normal B-lymphocyte count, but also hypoimmunoglobulinemia with median serum immunoglobulin values of IgA, 11 mg/dl; and stool examinations.Repeated sweat test chemistry was found normal (median Na, 30 mEq/l; Cl, 10 mEq/l).History, and physical and radiologic IgM, 17 mg/dl; IgG, 107 mg/dl; and normal IgE our laboratory normal ranges are close to Hong's International Reference Standard Values) [3].examinations, revealed that the child was generally free of pulmonary disease.Following informed parental consent, endoscopic examination of The patient's glomerule filtration rate, acid-loading test, and thyroid functions were normal.Other systemic and routine hematologic and bio-the small intestine disclosed only mucosal edema.An abdominal CT scan [2] showed fatty infiltration of the pancreas (Fig. 1).chemical findings were remarkable.No medication was instituted during his stay in the hospital.During hospitalization, he presented with intermittent neutropenia (median, 1.1 ϫ 10 9 /l) in cycles of 3 weeks, instead of the moderate chronicWe did not come across such disturbances as were seen in the present case in other cases with Schwachman's syndrome reported formerly, except neutropenia characteristic of Schwachman syndrome, and with moderate marrow cellularity during neutropenic periods, with normal maturity and in the case of Brueton et al. [4], presenting with cyclic neutropenia and variability in immunoglobulins.ratio attained before the advent of each neutropenic cycle.However, there was no intense myelopoiesis beginning with the advent of neutropenia, andThe patient returned for a single follow-up examination 3 months after discharge with pancreatic enzyme replacement.His findings suggested a the typically elevated monocytes at the nadir of the neutrophil count were