[Glutathione synthetase deficiency].

CASE REPORT: The patient was a boy born in June, 1990. The proband's father had a history of nonspherocytic hemolytic anemia. The patient was anemic at birth (Hb 11.9 g/dl) and had a hemolytic attack on postnatal day 2. His hemolysis became well compensated, and his second hemolytic episode occurred at three years of age. CLINICAL AND LABORATORY FINDINGS: The patient's mental development had so far been normal and he has no neurological symptoms. His only clinical manifestation has been compensated hemolytic anemia with a hemoglobin concentration of about 11.0 g/dl and a reticulocyte count of 3-6%. He was positive on the Heinz body formation test, and target cells were seen on his peripheral blood smear. The osmotic fragility test yielded slightly increased value. Decreased reduced glutathione (GSH) was observed (4.4 mg/dlRBC) (normal range: 63.9 +/- 9.6), and he also had decreased glutathione synthetase (GS) activity of 0.03 U/gHb (0.38 +/- 0.08 U/gHb). A diagnosis of GS deficiency was made. Decreased glutathione S-transferase (GST) activity was also found (0.57 U/gHb) (normal range: 6.65 +/- 1.20). DISCUSSION: GS deficiency has been reported in about 30 families all over the world. This patient was the first Japanese patient with red cell GS deficiency.

[A case report of Epstein syndrome].

Epstein's triad which is a syndrome with the combination of macrothrombocytopenia, deafness and nephritis, is similar to Alport's syndrome. We report on a case of Epstein syndrome and describe the results of morphological examination of a renal biopsy, specimen. The patient was a 14-year-old girl with the diagnosis of chronic idiopathic thrombocytopenic purpura that had preseated from the age of 3 years. She was referred to Daisan Hospital of the Jikei University School of Medicine on April 1, 1991 for refractory thrombocytopenia. She had shown sensorineural hearing loss since the age of 6 years and her peripheral blood smear revealed giant platelets on admission. She was treated with interferon, prednisolone, and high-dose gamma-globulin (400 mg/day x 5 days). However, the platelet count did not increase, but hypermenorrhea continued. She subsequently showed proteinuria and hematuria. She underwent splenectomy and renal biopsy on August 12, 1992. The glomeruli appeared to be almost normal under light microscopy. The interstitium showed regional fibrosis containing foam cells and the renal tubuli showed mild atrophy. Under electronmicroscopy, the basement membrane of the glomeruli was associated with mesangial interposition and the lamina densa was split into several layers. These ultrastructural findings were compatible with those of Alport's syndrome.

Lymphoma syndrome leukemia revealed interesting finding on brain CT and ultrasound scan of abdomen at the initial presentation.

This paper reports on a patient with lymphoma syndrome leukemia (LSL) who showed interesting findings on brain computed tomography (CT) and ultrasound scans of the abdomen at the initial presentation. The patient was a 5 year old girl. When she was admitted to our hospital, there were many lymph nodes palpable. The abdomen was distended and the liver and spleen were palpable below the umbilicus. Hematologic examinations revealed a leukocyte count of 275,800/microL with 98% lymphoblasts. Chest X-ray film revealed a mediastinal mass. The diagnosis of LSL was made. Her brain CT scan showed a low density area in the right thalamic region without contrast enhancement; infarction was suspected. Furthermore, her abdominal ultrasound scan showed hepatosplenomegaly, kidney swelling with increasing echogenicity and hydronephrosis and stones in the renal pelvis and bladder. These findings are unprecedentedly rare in cases of childhood acute lymphoblastic leukemia (ALL), much less in LSL.