An unusual case of massive hepatosplenomegaly

Sagar, Amitabh; Pathak, Abhishek; Bohra, Vijay; Nair, Velu

doi:10.4103/2230-8210.107881

Cited by 2 publications

(3 citation statements)

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“…Diagnosis is confirmed by measurement of enzyme activity in peripheral blood leucocytes (gold standard) or from cultured skin fibroblasts or other nucleated cells. Demonstration of Gaucher cells in bone marrow is sufficient for the diagnosis, where enzyme activity cannot be measured [4].…”

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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“…These are classic imaging findings and are part of the natural history of GD [25]. On MRI there was also hepatic enlargement with tightening of the porta region [2,20]. And, the brain mass does not show deposit disease.…”

Section: Discussionmentioning

confidence: 91%

“…This patient had clinical and laboratory findings that are common in GD, including bone marrow and iron metabolism dysfunction as anaemia, thrombocytopenia, bleeding episodes [2,6], high levels of ferritin [19], hypersplenism and abdominal distension [2,20], and hypergammaglobulinemia [5,6]. Moreover, growth failure affecting height and weight was observed, but results of endocrine tests assessing thyroid and gonadotrophic axis showed no abnormalities suggestive of a hormonal disorder [21].…”

Section: Discussionmentioning

confidence: 99%

Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Pinto

Nassone

Ismail

et al. 2021

J. inborn errors metab. screen.

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Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations in the GBA1 gene, causing partial or complete deficiency of β-glucocerebrosidase enzyme activity, which leads to the widespread accumulation of the substrate glucosylceramide. Aims: This report presents different challenges of clinical management and communication between medical specialties to reach diagnose of any rare disease in Mozambique, a low-income country, which health system has limited infrastructure, trained personnel, and budget for diagnosis and to provide treatment for rare genetic disorders such as GD. Case Presentation: The patient was a 15-year old black female patient of Mozambican nationality born from non-consanguineous parents. Three of the four patient's siblings were healthy; one sister had died of a disease with a similar clinical features. Our patient presented with abdominal distention and hepatosplenomegaly. Blood tests revealed pancytopenia and a high level of ferritin. Liver biopsy and histologic examination revealed infiltration of the splenic parenchyma and portal area of the liver as well as enlarged histiocytic cells with granular cytoplasm. Magnetic resonance imaging showed liver enlargement, changes in the femoral heads without osteonecrosis, a pathological fracture of the third thoracic vertebrae (T3), with absence of brain and spinal cord neurological abnormalities. The biochemical investigation disclosed low levels of β-glucocerebrosidase (0.223 nmol/h/ml; normal: above 0.98) and increased levels of lyso-Gb1 (0.43 µg/ml; normal: up to 0.003). Genotyping of the GBA1 gene indicated the presence of the pathogenic variant p.Arg87Trp (R48W) in homozygosis. Discussion and Conclusion: To the best of our knowledge, this report describes the first case of GD type 1 confirmed via biochemical and molecular genetic testing in Mozambique. As awareness of the GD and rare genetic diseases among Mozambican health professionals is very limited, and resources for diagnosis are scarce in the national health system, it is possible that other cases remain undiagnosed in this low-income country.

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An unusual case of massive hepatosplenomegaly

Cited by 2 publications

References 2 publications

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

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

Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

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