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

Abstract

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...

The Effect of the Enzyme Replacement Therapy on the Kidney Function Tests and Serum Electrolyte Levels in Children With Gaucher Disease

“…In contrast to tests for the assessment of sodium, potassium and also creatinine, urea showed a different pattern in the present study, which also differ from the most previous studies (3,11) in that urea levels showed a significant higher level compared to controls as demonstrated in table (1). Additionally table (4) also revealed that the levels of urea in newly diagnosed untreated patients, patients treated with ERT for 3-6 months and patients treated for 6-12 months were significantly higher than that of control while the level of urea return to a normal level, which is comparable to that of control after receiving the treatment for more than year and also noticed that there was a non-significant differences between newly diagnosed untreated patient and patients received treatment for 3-6 months.…”

“…According to results obtained in table (3), it was demonstrated that there was a nonsignificant difference in the levels of sodium and potassium among all the studied groups that may indicate a non-significant effect of the GD and also the treatment with ERT on the level of these electrolytes in agreement with previous studies (3,11) . The present study also revealed that the level of sodium and potassium didn't affect by treatment as revealed by a non-significant result obtained by ANOVA test in table (5) and also confirmed by the non-significant correlation with the period of treatment as shown in table (2).…”

“…Generally, most of the previous studies stated that the Gaucher patients didn't have a renal involvement and the level of serum urea and creatinine in addition to electrolytes such as sodium and potassium were normal (3,11) with some exceptions (7,12) that occurs rarely. This clinical manifestation of organ dysfunction directly related to massive Gaucher cells infiltration (7,10) such as appeared in the present study in which a significant increase in the serum urea were observed.…”