A Girl with Farber Disease Treated with Bone Marrow Transplantation

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Elham Farasat ◽  
Elnaz Sheikhpour
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Central Nervous System Involvement ◽  
Signs And Symptoms ◽  
First Year ◽  
Farber Disease ◽  
Subcutaneous Nodules ◽  
Exon 11 ◽  
First Year Of Life

Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement.   Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c.830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with bone marrow transplantation. After that her signs and symptoms were improved and she could to walk.   Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, bone marrow transplantation improved these symptoms.

Invasive Fungal Sinusitis following Liver or Bone Marrow Transplantation

1994 ◽  
Vol 8 (2) ◽  
pp. 77-84 ◽  
Author(s):  
Perry J. Johnson ◽  
William M. Lydiatt ◽  
James V. Huerter ◽  
Frederic P. Ogren ◽  
Julie M. Vose ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Effective Means ◽  
Management Strategies ◽  
Retrospective Chart Review ◽  
Signs And Symptoms ◽  
Fungal Sinusitis ◽  
Hematopoietic Growth Factors ◽  
Invasive Fungal Sinusitis

Invasive fungal infection of the nose and paranasal sinuses occurs almost exclusively in immunocompromised patients and is increasingly recognized as a complication of organ transplantation. We performed a retrospective chart review of 955 bone marrow and 749 liver transplant patients to identify risk factors, presenting signs and symptoms, methods of diagnosis, and successful management strategies. We report on five cases following bone marrow transplantation and one case following liver transplantation. Neutropenia is the single most important risk factor in the development of and recovery from invasive fungal sinusitis. Early diagnosis, combined with antifungal agents, hematopoietic growth factors, and aggressive surgical debridement is the most effective means of management.

scholarly journals Growth in children after bone marrow transplantation: busulfan plus cyclophosphamide versus cyclophosphamide plus total body irradiation

Blood ◽  
1992 ◽  
Vol 79 (4) ◽  
pp. 1068-1073 ◽  
Author(s):  
JR Wingard ◽  
LP Plotnick ◽  
CS Freemer ◽  
M Zahurak ◽  
S Piantadosi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Growth Rates ◽  
Total Body Irradiation ◽  
Marrow Transplantation ◽  
Lymphoblastic Leukemia ◽  
Cranial Irradiation ◽  
First Year ◽  
Second Year ◽  
Total Body

Abstract Growth was assessed during the first and second years following bone marrow transplantation (BMT) in 47 children treated by either busulfan plus cyclophosphamide (BU/CY) (n = 24) or cyclophosphamide plus fractionated total body irradiation (CY/TBI) (n = 23). Before transplant, the median height was only 0.2 SD below age- and sex- adjusted means (range, -2.5 to +3.0). Height was greater than 2.0 SD below normal in only three patients (6%). The pretransplant heights were comparable in the BU/CY and CY/TBI groups (-0.1 v -0.6 SD, P = .35). Following transplant, median 1- and 2-year heights were 0.7 and 0.9 SD below normal, respectively. Growth rates were 2.2 SD and 1.4 SD below normal during the first and second years, respectively. Growth rates were greater than 2.0 SD below normal in 24 of 47 (51%) at 1 year and in 12 of 31 (39%) at 2 years after transplant. Growth rates in patients treated with BU/CY were comparable to those treated with CY/TBI during both years: -2.5 versus -1.7 SD during the first year (P = .19, Wilcoxon), and -1.5 versus -1.1 SD during the second year (P = .61). Growth rates during the second year correlated with growth rates during the first year (r = .36, P = .046). Growth rates during the first year were lower in patients who had been given prior cranial irradiation, those who were near pubertal age at the time of transplant, and those who were transplanted for a disease other than acute lymphoblastic leukemia (ALL). During the second year, poor rates of growth were associated only with the use of corticosteroids after transplant.

scholarly journals Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)

2000 ◽  
Vol 26 (3) ◽  
pp. 357-363 ◽  
Author(s):  
AM Yeager ◽  
K Armfield Uhas ◽  
CD Coles ◽  
PC Davis ◽  
WL Krause ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Farber Disease ◽  
Ceramidase Deficiency

scholarly journals Acute lymphoid leukemia (LLA): A pediatric case report in dizygotic twins

2020 ◽  
pp. 36981-36985
Author(s):  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Clinical Status ◽  
Signs And Symptoms ◽  
Lymphocytic Leukemia ◽  
Lymphoid Leukemia ◽  
Acute Leukemias ◽  
Acute Lymphoid Leukemia

Acute leukemias are considered neoplasias that reach the hematopoietic system, resulting in rapid clonal expansion and accelerated proliferation of blood cells. In this way, the cells lose their capacity for maturation and differentiation, accumulating young cells (blasts) and without function in the bone marrow. Acute lymphocytic leukemia (ALL) is a neoplasm that affects cells of the lymphoid lineage, but its prevalence occurs in B-cell precursors compared to T cells. It is common to occur in children between 1 and 5 years of age, comprising about 80% of the cases of all leukemias in this age group, but in adults, the probability of being present is lower. The present study aimed at the accomplishment of a case report on acute lymphoid leukemia in children, based on the comparison of risk factors in the family, and the evaluation of socioeconomic interference in the treatment, where, through an explanatory booklet, health professionals and the community about the major signs and symptoms of ALL in children. The research was submitted to the Ethics Committee of the Catholic University Center of Quixadá, through the Brazil Platform where it was analyzed and approved (01673218.2.0000.5046). In this study, we reported the case of two twin sisters who entered the Hospital São Sebastião de Pedra Branca, Ceará at different times, where one was admitted with fever and boulders, and another presenting only fever, after laboratory tests they were referred to a referral hospital in Fortaleza, Ceará, and were then diagnosed with acute lymphoid leukemia. Due to the poor prognosis of this pathology and a possible worsening of the patients' clinical status, they were referred for bone marrow transplantation. Fortunately, after the treatments performed, the twin had a positive evolution, no longer needing to undergo bone marrow transplantation

scholarly journals Early hepatic complication in first year after bone marrow transplantation in major βthalassemia patients

2006 ◽  
Vol 12 (2) ◽  
pp. 128
Author(s):  
M. Iravani ◽  
L. Nedaeifard ◽  
M. Arshy ◽  
M. Toutounchi ◽  
A. Ghavamzadeh
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
First Year

Bone marrow transplantation for childhood Ki-1 lymphoma.

1990 ◽  
Vol 8 (4) ◽  
pp. 657-660 ◽  
Author(s):  
V Chakravarti ◽  
N R Kamani ◽  
E Bayever ◽  
B Lange ◽  
P Herzog ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Allogeneic Bone Marrow Transplantation ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
High Dose Chemotherapy ◽  
High Dose ◽  
Allogeneic Bone ◽  
Clinical Signs And Symptoms

Two children with Ki-1 antigen-positive, non-Hodgkin's lymphoma received high-dose chemotherapy, fractionated total body irradiation (TBI), and allogeneic bone marrow transplantation. Both patients had relapsed multiple times on conventional chemotherapy and radiation therapy. Following transplantation, there was successful engraftment with disappearance of clinical signs and symptoms of their disease. As of June 1, 1989 they are in continuous unmaintained complete remission, 56 and 40 months, respectively, after bone marrow transplantation.

scholarly journals Bone marrow transplantation for constitutional pure red cell aplasia

Blood ◽  
1988 ◽  
Vol 71 (1) ◽  
pp. 226-229 ◽  
Author(s):  
C Lenarsky ◽  
K Weinberg ◽  
E Guinan ◽  
PP Dukes ◽  
Y Barak ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Pure Red Cell Aplasia ◽  
Mixed Lymphocyte Culture ◽  
Lymphocyte Culture ◽  
Red Cell ◽  
Curative Therapy ◽  
Red Cell Aplasia ◽  
First Year Of Life

Abstract Constitutional pure red cell aplasia (CPRCA) is a syndrome of failed erythropoiesis usually diagnosed within the first year of life. Four patients with CPRCA received transplants with marrow from their HLA- identical, mixed lymphocyte culture-nonreactive siblings. All patients were resistant to corticosteroid therapy and were dependent on regular red cell transfusions for at least 5 years. Three patients were conditioned with procarbazine, antithymocyte globulin, cyclophosphamide, and busulfan, and one was conditioned with antithymocyte serum, cyclophosphamide, and busulfan. Three patients promptly had successful engraftments with establishment of donor hematopoiesis. One patient initially rejected his graft but received a successful retransplant. All patients are currently alive with Karnofsky performance scores of 100 and normal erythropoiesis of donor origin. Despite a history of multiple transfusions, bone marrow transplantation is a potentially curative therapy for patients with CPRCA.

scholarly journals Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation

2001 ◽  
Vol 59 (3B) ◽  
pp. 784-789 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Ivar V. Brandi ◽  
Carlos H.F. Camargo ◽  
Marco A. Bittencourt ◽  
Carmem M. Bonfim ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Immunosuppressive Agents ◽  
Allogeneic Bone Marrow Transplantation ◽  
White Matter Lesions ◽  
Signs And Symptoms ◽  
Hypertensive Encephalopathy ◽  
Neurological Dysfunction ◽  
Allogeneic Bone

Reversible posterior leucoencephalopathy syndrome (RPLS) has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA) after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA) who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity.

scholarly journals Bone marrow transplantation for constitutional pure red cell aplasia

Blood ◽  
1988 ◽  
Vol 71 (1) ◽  
pp. 226-229
Author(s):  
C Lenarsky ◽  
K Weinberg ◽  
E Guinan ◽  
PP Dukes ◽  
Y Barak ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Pure Red Cell Aplasia ◽  
Mixed Lymphocyte Culture ◽  
Lymphocyte Culture ◽  
Red Cell ◽  
Curative Therapy ◽  
Red Cell Aplasia ◽  
First Year Of Life

Constitutional pure red cell aplasia (CPRCA) is a syndrome of failed erythropoiesis usually diagnosed within the first year of life. Four patients with CPRCA received transplants with marrow from their HLA- identical, mixed lymphocyte culture-nonreactive siblings. All patients were resistant to corticosteroid therapy and were dependent on regular red cell transfusions for at least 5 years. Three patients were conditioned with procarbazine, antithymocyte globulin, cyclophosphamide, and busulfan, and one was conditioned with antithymocyte serum, cyclophosphamide, and busulfan. Three patients promptly had successful engraftments with establishment of donor hematopoiesis. One patient initially rejected his graft but received a successful retransplant. All patients are currently alive with Karnofsky performance scores of 100 and normal erythropoiesis of donor origin. Despite a history of multiple transfusions, bone marrow transplantation is a potentially curative therapy for patients with CPRCA.

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