Partial splenectomy in Gaucher's disease

Rubin, Moshe; Yampolski, Igal; Lambrozo, Rafael; Zaizov, Rina; Dintsman, M

doi:10.1016/s0022-3468(86)80063-x

Cited by 47 publications

(11 citation statements)

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“…Partial splenectomy may be the first treatment option in pediatric age group which improves hematological status and growth [7]. Advances in the management of this neglected, rare disorder continue to be hindered by high cost of therapy.…”

Section: Discussionmentioning

confidence: 99%

Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

Modak¹

2015

JCDR

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A 17-year-old female born to parents of non-consanguineous marriage was referred to us with easy fatigability, respiratory distress of one month duration and dragging sensation in left side of upper abdomen for three years. History revealed primary amenorrhea, stunted growth and recurrent respiratory tract infections requiring hospitalizations during the past two years. There was no history of jaundice, rash, joint pains, bone pain or bleeding from gastrointestinal tract. She had received five units of blood transfusions in the past three months. She had a body weight of 27kg and height of 106cm. She was afebrile, pale, and had hepatomegaly and massive splenomegaly (4cm and 17cm below the costal margins respectively). Examination of other systems was noncontributory. Laboratory investigations revealed hemoglobin 8.2 gm%, WBC count 2300/cmm (Neutrophil -50%, Lymphocyte -32%, Monocyte -4%, Eosinophil -14%), Platelet-80 lakh/cmm. Hemoglobin electrophoresis was normal. Liver function tests demonstrated total bilirubin -1.3 mg% (conjugated-0.4mg%) , albumin: globulin -3.2:3.7, SGPT -35 IU/ml, SGOT -49 IU/ml, alkaline phosphates -726 IU/ml. Prothrombin time was 12 s. Blood urea, serum creatinine, sodium, potassium, calcium, thyroid and lipid profile were within normal limits. Ultrasonography showed hepatosplenomegaly and no abnormality was detected in X-ray of chest and large and small joints. Serum FSH (5.03 mIU/ml) and LH (11.12 mIU/ml) were within normal range. For evaluating pancytopenia with hepatosplenomegaly a bone marrow (BM) aspiration and trephine biopsy was done. BM smear showed normoblastic marrow with normal megakaryocytic and normal erythroid leukocyte ratio. Histopathological examination of bone marrow trephine smear demonstrated large cells with small irregular nuclei and abundant vacuolated cytoplasm suggestive of Gaucher cells. Acid β-glucosidase activity was estimated and found to be < 25% of normal. On basis of age, mode of presentation and evidence on bone marrow with enzyme deficiency, a diagnosis of type 1 GD was made. To combat pancytopenia, repeated respiratory infections and mechanical discomfort of huge splenomegaly, splenectomy was carried out.The spleen measured 20cms in its great axis and weighed 1270g; cut surface showed pale grayish and brownish areas and histopathological study revealed infiltration of red pulp with Case -2Her 20-year-old elder brother, apparently asymptomatic, but inattentive, presented with pallor and hepatosplenomegaly (liver 3cm, spleen 5cm below costal margin). On examination, there was strabismus. Hemoglobin -7gm%, WBC-3000/cmm, Neutrophil -62%, Lymphocyte -30%, Monocyte -2%, Eosinophil -6%, platelet-70,000/cmm. Other relevant investigations including serum ceruloplasmin, 24h urinary copper excretion were normal. Bone marrow aspiration was done and Gaucher cells were demonstrated, with low acid β-glucosidase activity. Six months later, he presented with dementia, abnormal aggressive behaviour which needed psychiatric consultation. In next three months he suffere...

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Section: Discussionmentioning

confidence: 99%

Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

Modak¹

2015

JCDR

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“…Our therapeutic approach to CGD has been modified recently by the introduction of partial splenectomy [6]. With this technique a considerable reduction of the bulk of the spleen can be achieved.…”

Section: Discussionmentioning

confidence: 99%

Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease

1986

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The incidence and severity of osteolytic bone changes in patients with chronic (Type I) Gaucher disease splenectomized in the first decade of life were compared to those in patients of the same age group and similar degree of severity of the disease in whom the spleen remained intact at least until the second half of the second decade. The size of the spleen, measured by palpation, was used as an index of severity. In the splenectomized group osteolytic changes appeared within a few months following splenectomy in six out of eight cases. The changes were severe in five cases and moderate in one. In contrast, in the non-splenectomized group, evidence of bone destruction was found in two out of eight patients and classified as mild in both cases. Furthermore, in three patients in this group, who remained free of bone destruction until splenectomy in the second half of the second decade, osteolytic lesions appeared soon after the operation. Children with chronic Gaucher disease can be spared a great deal of suffering caused by bone disease, if splenectomy is avoided or postponed as far as possible.

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“…However, this surgical intervention is associated with relatively high incidence of sepsis and alterations in the immune defense [1]. Therefore, partial splenectomy has been suggested as an alternative procedure and in recent years has been carried out for a variety of pathologic conditions, such as Gaucher's disease [2][3][4], chronic idiopathic thrombocytopenia [5], splenic cysts [6], splenic hamartoma [7], sickle cell syndromes [8], myeloid metaplasia and myelofibrosis [9], as well as other cases with hypersplenism. Although this operation exerts a sparing effect on the immune system function, the question as for the amount of splenic tissue to be removed is under debate.…”

Section: Introductionmentioning

confidence: 99%