ehsan shahverdi

An analysis of red blood cell alloimmunization in patients with thalassemia can help to devise specific strategies to decrease the alloimmunization rate. This study explored the frequency and specificity of alloantibodies and autoantibodies against red blood cell (RBC) antigens in patients with thalassemia referring to the Iranian Blood Transfusion Organization (IBTO) Immunohematology Reference Laboratory (IRL) in Tehran.

This study first examined the laboratory records of 23,113 patients suffering from different diseases referring to IBTO’s IRL for pretransfusion testing in the 2008-2015 period. ABO and Rh(D) typing and antibody screening tests were performed for all 23,113 patient records and 685 (2.97%) beta-thalassemia patients with positive pre-transfusion test results (antibody screening and/or DAT) were selected for further investigation.

The antibody screening test was positive in 640 out of 685 thalassemic patients (93.4%). DAT was performed for 529 patients, 226 (33%) of which showed positive results. Meanwhile, 161 out of 685 beta-thalassemia patients (23.5%) had positive auto control test results, reflecting the possible presence of allo- and/or autoantibodies. The most common antigen-specific alloantibodies were directed against K and E RBC antigens with a frequency of 25% (Anti-K) and 11.91% (Anti-E), respectively. The development of two antibodies (double antibodies) in one patient was observed in 80 individuals (11.46%).

Age, gender, history of pregnancy, and splenectomy were not contributing factors to the antibody presence in the patient population under study. Extended red blood cell phenotyping should be considered as an essential procedure for expected multi-transfused thalassemia patients before blood transfusion. Considering the high frequency of anti-K and anti-E observed in this study, it is recommended that thalassemia patients in Iran are tested through phenotyping of RBC units for K and E antigens before transfusion.

The aim of this study was to evaluate urinarymetabolicfeaturesas ariskfactorin stone formation.

In thiscase-control study, 222 childrenranging from 6 months to16years old suffering fromurolithiasis in our university hospitals in Iran in 2019-2020 were selected through random sampling andwere subsequently evaluated. The research group werechildrenwithurinarystones and urinary tract infectionand the control group encompassed childrenwithurinarystonesand without urinary tract infection. Data was analyzed using statistical package for social sciences (SPSS) version 16 (SPSS Inc. Chicago, IL) for windows.

Theratio of average amounts ofcalcium, magnesium, oxalate, cystine, uric acid,andcitrateto creatinineshowed no significantdifferences between thetwo groups.

Urinary tractinfectioncannot be considered as afactorforstone formation inthe urinary tractdue to changes inurinarybiochemical characteristics.

Acute lymphoblastic leukemia (ALL) is one of the blood cancers responsible for 80% of children’s leukemia and is also the most common malignancy in patients aged under 14 years (frequency of 23% among all types of cancers). Regarding the importance of identifying clinical symptoms to diagnose the disease in the early stages, this study is conducted to investigate the symptoms at diagnosis in ALL children.

In this retrospective cohort study, 350 patients aged under 14, referring to four hospitals of Shiraz University of Medical Sciences as reference hospitals in Southern Iran, participated between 2013 and 2019. Their information was collected using patients’ records, and the data were analyzed using SPSS version16.

Based on the findings of this study, the first clinical manifestations of the disease happened suddenly and acute, occurring within a few days to a maximum of 6 weeks before diagnosis. Fever (70%) and hepatomegaly (60%) were the most common signs and symptoms in patients. However, a significant percentage of ALL patients referred with non-specific symptoms.

The results of this study indicate the importance of recognizing common and unusual signs and symptoms based on a complete and thorough history taking and accurate physical examination as well as rare symptoms that may be ignored or misdiagnosed by physicians. The knowledge of common signs and symptoms results in early diagnosis of the disease in early stages.

Diabetes mellitus is one of the most common endocrine disorders in the world and is accompanied with many complications such as periodontal disorders as the most common complications of diabetes in the mouth. It is estimated that 1 million people worldwide are suffering from varying degrees of vitamin D deficiency, and some studies have linked it with periodontitis and diabetes. The purpose of this study is to investigate the relationship between periodontal disease in type 2 Diabetic patients and vitamin D deficiency in Iranian population.

 This cross-sectional study conducted on 74 Iranian patients admitted to Baqiyatallah hospital during the years 2017-2019. The type II diabetic patients were selected and non-volunteers patients and those who did not meet the inclusion criteria were excluded. Then, Necessary tests were evaluated in all patients. Patients were divided into two groups of with and without vitamin D deficiency. A questionnaire for periodontal disorders was completed by two different blinded periodontists. The collected data was analyzed using SPSS-21 software using Chi-square and T-test.

 44 males and 30 females were studied. 37 patients had vitamin D levels below 30 ng/ml. 83.8% of the patients had periodontal disorders. The frequency of periodontitis was higher in diabetic patients with vitamin D deficiency than in diabetic patients with normal levels of vitamin D. Periodontal disorders were also significantly correlated with duration of diabetes, age of patients and HbA1c.

 Periodontal disorder is more prevalent in patients with inadequate vitamin D serum levels. Screening for diabetic patients seems to be necessary both in terms of diagnosis of periodontitis and vitamin D deficiency.

The main cause of chronic liver disease in Iran is Non-alcoholic fatty liver disease (NAFLD). A common pathological feature of chronic liver disease is fibrosis, so particular vigilance against patients with liver fibrosis is necessary to lead healthcare resource planning. The aims of the current study were to determine the prevalence and predictors of significant fibrosis and advanced ones among individuals with NAFLD. In the current cross-sectional study conducted during 2013-2016, the presence of fibrosis among NAFLD patients was assessed using the NAFLD fibrosis score (NFS) and AST to Platelet Ratio Index (APRI) systems. Multivariate logistic regression models were used to predict significant fibrosis or advanced fibrosis among NAFLD patients. Analysis of the results of over 999 patients (569 females and 430 males) with the mean age of 43.28±14.034 years in Iran during 2015-2016 showed that the overall prevalence of NAFLD among Iranian adults was 19.6%. NAFLD prevalence was not significantly higher in males compared to females (51.5% vs. 48.5%, P=0.66). On multivariate logistic regression analyses, females were less likely to have NAFLD compared to males (OR 0.32, 95% CI 0.24-0.42, P<0.001). The overall prevalence of liver fibrosis among NAFLD patients was 38.8%.20.4% and 6.12% of NAFLD patients had evidence of significant and advanced fibrosis, respectively. Our most recent dataset analysis emphasized the major burden of  NAFLD among people of Iranian origin. A high prevalence of individuals with NAFLD and advanced fibrosis was observed.

Acute lymphoblastic leukemia (ALL) is a heterogeneous group of lymphoid neoplasms resulting from the proliferation of malignant lymphoid cells. The aim of this study was to evaluate treatment-related complications in children with ALL receiving the Medical Research Council (MRC) UKALL X protocol.
In this retrospective cross-sectional study, children with ALL receiving the MRC UKALL X protocol from 2008 to 2015 in Bahrami University Hospital, Iran, were enrolled. The clinical and morphological features were analysed and treatment-related complications were assessed.
Out of 67 children with ALL receiving the MRC UKALL X protocol, 44 (65.6 %) were boys and 23 (34.4%) were girls. Seven patients (10.7%) relapsed in the three years of diagnosis, and 50 children (74.6%) had an overall survival of three years. Average age in three-year-survival group and mortality group was 6.92 (SD: 3.96) and 6.35 (SD: 7.47), respectively (P= 0.38).
Overall survival and relapse rates in this study confirm that this protocol is an appropriate treatment strategy.

Aphasia is the most frequent disorder that could occur following a stroke. Aphasia has a negative impact on the patient’s communication ability through language. One of the common consequences of aphasia is naming deficits that can lead to communication disorders. Therefore, the treatment of aphasia is necessary. The aim of the current study was to investigate the effect of video modeling and clinician modeling on naming skills of patients with chronic aphasia.

The design of this prospective single subject study was ABA that performed on four patients with chronic aphasia. participated. This study was administered during three phases including the baseline (three sessions); the intervention (nine sessions); and a follow-up phase (three sessions). The outcome measure was taken in three phases including baseline, intervention, and follow-up. For each patient, the naming score for items modeled by the clinician, the naming score for items modeled video modeling by other, the naming score for self-video modeling, and the reaction time score were recorded.

A total of three patients complete the study and one of them refused to continue treatment. The naming score of all modeling types increased in all patients. In the other words, the intervention helped the patients be improved in naming. Also, the results of the reaction time indicated that the video modeling, as well as clinician modeling, could decrease the response time that means the intervention could increase the speed of retrieval processes.

In our study, all three types of modeling could improve the naming scores in patients with chronic aphasia. Additionally, the findings demonstrate that the clinician and video modeling might increase mental processing for naming verbally

Mitral valve insufficiency in adults is often a complication of ischemic heart disease. Coronary artery bypass grafting (CABG) is performed as a strategy for the treatment of coronary artery disease. The aim of this study was to evaluate mitral regurgitation (MR) before and after CABG.

This Experimental study was conducted on 100 patients who underwent CABG in University Hospitals of Tehran, Iran, from 2009 to 2013. Statistical Package for the Social Sciences (SPSS) version 16 (SPSS Inc. Chicago, IL) for Windows was used for data analysis..

Out of 100 patients (i.e., 60 males and 40 females) with the mean age of 64.97±10.64 years, 11 males (18.3%) and 12 females (30.0%) were identified with MR +2 after the surgery. There was no significant relationship between renal insufficiency and MR before the operation (P= 0.370). Furthermore, in patients with and without renal insufficiency, 2 (50.0%) and 21 (21.9%) subjects were identified with MR +2 after the operation, respectively. Out of 100 patients, 75 (75%) cases with MR +2 before the surgery were identified with MR +1 after the operation. Moreover, 23 (23%) subjects with MR +2 before the surgery were still reported with MR +2 after the operation. In this regard, there was a significant relationship before and after the surgery in MR severity (P=0.02).

It is necessary to have sufficient knowledge of the risk factors in dealing with MR for the determination of the best therapy.

Iran is a member of the International Society for Blood Transfusion (ISBT) working party on rare donors since 20102. Recognition of individuals with Rhnull phenotype was reported to the working party in order to be added to the list of countries with Rhnull donors. Iranian database of rare blood groups is followed by international researchers and is important for the Rare Donor Working Party of the International Society of Blood Transfusion (ISBT). Iran is a country with a relatively high prevalence of rare phenotypes and further new blood groups were newly identified. In our published paper, we reported a case study of siblings (a 43-year-old female and her brother) who were strongly suspicious of presenting a rare Rhnull phenotype. Their extended RBC phenotyping showed that they were negative for D, C, E, c, e antigens. We now found out that the brother passed away of unknown causes a few months ago. This means that now we have only one person with this very rare blood group, which raised our concern for supplying compatible blood at the time of need, since the deceased brother was the only donor for his sister. There are two units of frozen RBC donated previously by him in stock. We are almost sure that blood transfusion services might face challenges to provide compatible blood to this individual who lacks all Rh antigens. In conclusion, at present, there is only one individual (a female) patient with the rare Rhnull phenotype in Iran.

Rhnull phenotype is a rare blood group with a frequency of approximately 1 in 6 million individuals, transmitted via an autosomal recessive mode. It is characterized by the weak (Rh mod) or lack (Rh null) of expression of all Rh antigens on the red cells. The clinical significance of its assessment is that such patients with Rhnull syndrome are associated with chronic hemolytic anemia of varying degrees. Another clinical importance is that such subjects readily form alloantibodies when exposed to Rh antigens.
We report herein a rare Rhnull phenotype in a sibling which was detected as a part of the difficult sample work-up for red cell antibody screening and identification.

Due to high prevalence of vitamin D insufficiency in Iranian children, researchers found a low level of vitamin D among patients with nephrolithiasis.
Since previous studies showed hyper-vitaminosis D in patients with renal stone, the current study aimed to clarify this paradox.
In this cross-sectional study, 100 pediatric patients with renal stone referred to Pediatric Urology and Nephrology Clinic of Baqiyatallah Hospital in Tehran, Iran, in 2014 were selected using a simple sampling method. The serum level of vitamin D3 was measured in a laboratory and the correlation between vitamin D3 and other variables were evaluated.
One-hundred pediatric patients, 64% male and 36% female, with renal stone were evaluated. The serum level of vitamin D and calcium had no significant difference between male and female patients. Four patients had vitamin D deficiency, 31 patients had vitamin D insufficiency and others had sufficient levels of vitamin D. There was a direct significant correlation between the level of vitamin D and calcium serum level. Family history of renal colic did not affect the serum levels of vitamin D and calcium. The serum level of vitamin D was significantly higher in patients with bilateral renal stone compared to patients with unilateral renal stone.
Serum levels of vitamin D in children with urinary stones were low. The level of vitamin D deficiency was significantly correlated with disease severity and serum level of calcium.

The aim of this study was to compare a group of children with primary nocturnal enuresis (PNE) with a healthy control group by assessing sleep quality.
This observational study comprised of 116 children aged between 5 and 15; 58 children, who had natural PNE and had attended the urology clinic as outpatients, and 58 healthy controls, who had referred to Baqiyatallah and Najmiyeh hospitals, Tehran, in 2016 and were selected by simple random sampling. All participants performed the Pittsburgh sleep quality index (PSQI) test. The SPSS 13.0 (SPSS Inc.) software was used for data analysis.
Ten children (17%) from patients with PNE were preterm or had a difficult delivery (P = 0.02). Most healthy children (n = 26) had eight to ten hours of sleep each night, while in patients, the largest number (n = 28) had six to eight hours of sleep each night (P = 0.09). The need for the presence of parents or toys was higher in children with PNE. Being accustomed to eating and drinking before bedtime was significantly higher in children with PNE (P Sleep problems in children with enuresis is one of the most important problems, which affects their lives. The current study confirms sleeping problems in children with enuresis. Sleep and enuresis have mutual impressions and one has to consider improvising of sleep quality in children with enuresis.

Acute lymphoblastic leukemia (ALL) is a malignancy of lymphoid progenitors in bone marrow, peripheral blood, and extra medullar, which accounts for 1/4 of childhood cancers.
Regarding the uncertainties of the exact causes of the disease and the importance of identifying risk factors of acute lymphoblastic leukemia, this study aimed at investigating the causes of pre- and post - natal birth in children with ALL.
This case - control study was performed on 156 patients with ALL and 85 patients without ALL in a 4 - year period in Ali Asghar, Shahid Faghihi, and Shahid Motahari Hospitals in Shiraz, Iran between January 2013 and March 2017. The student’s t and Chi - square tests were used. To evaluate relationships between various variables, Pearson’s or Spearman’s correlation analyses were used. The data were analyzed, using the SPSS 16 software.
Based on the findings of this study, the presence of Dawn’s syndrome and familial history of leukemia and brain tumors were identified as risk factors for the incidence of ALL in children. There was no significant relationship with the history of abortion, radiation exposure, economic status, place of residence, birth rate, etc.
The results indicate that among pre- and post - birth causes, the presence of Down syndrome and familial history of leukemia and brain tumors were as risk factors for the incidence of ALL in childrenþ. Due to the fact that therapeutic protocols are useful for the treatment of ALL in children, the results of this study and similar studies can be effective in preventing and managing the disease in children.

Systemic and intrathecal adenosine reduce chronic neuropathic and nociceptive pain; however, the effect of adenosine epidural injection in the treatment of neuropathic cancer-related pains remains unclear.
The objective of this study was to evaluate the efficacy of a single epidural administration of adenosine in alleviating chronic neuropathic pain in patients with primitive neuroectodermal tumors.
In this single-blind randomized clinical trial with the unique ID of IRCT2017031428878N1, 88 patients with chronic neuropathic pain were divided into two equivalent groups. Two groups were treated with a single dose epidural administration of ropivacaine, 0.75 mL/kg from 0.2% solution (both groups), plus adenosine, 50 mcgr/kg (adenosine group), or normal saline (control group). Patients were evaluated on the days 1, 2, 3, 5, 7, 10, and 14 after injection.
Both groups showed a reduction in pain severity according to verbal rating scale (VRS) (3 ± 0.09-1 ± 0.05 in adenosine, 4 ± 0.08-1 ± 0.00 in the control group) and visual analogue scale (VAS) (7 ± 0.25-1 ± 0.12 in adenosine, 8 ± 0.22-1 ± 0.06 in the control group); however, this reduction was significantly higher in the control group (P Administration of bolus epidural adenosine is not effective in reducing neuropathic pain in patients with primitive neuroectodermal tumors.

Ventilator-associated pneumonia (VAP) is the second most common nosocomial infection in neonates, admitted to neonatal intensive care units (NICUs). The aim of this study was to identify the main causes of bacterial colonization in endotracheal tubes and tracheal secretions of neonates hospitalized in the NICUs of our university hospitals.
This cross sectional study was conducted during 2015-2016. Thirty-nine neonates, who were under mechanical ventilation in the NICUs of Baqiyatallah and Najmiyeh hospitals of Tehran, Iran, were assessed. The patients were selected using the census sampling method. Gestational age, birth weight, duration of mechanical ventilation, length of hospital stay, tracheal discharge culture, endotracheal tube culture, blood culture, and chest radiography were evaluated.
In a total of 39 neonates (50.3% males and 49.7% females) with the mean age of 1.17±1.12 days, bacterial growth was reported in 6 (15.3%) cases. The antibiotic study of tracheal secretion and endotracheal tube cultures showed that 2.6% of patients were resistant to cephalosporins, aminoglycosides, nitrofurantoin, and carbapenem. Moreover, 12.8% were also resistant to fluoroquinolones, besides these antibiotics.
Tracheal secretion culture is a simple and proper approach for the diagnosis of VAP. Besides reducing the costs, this method can play a significant role in decreasing the incidence of infections.

Macrophage activation syndrome (MAS) is a rare feature of rheumatic disorders in children and adolescence and its presentation as the first symptom of rheumatic disorders is very infrequent.
A 9-year-old girl, in whom MAS developed, was admitted to our Hospital in Tehran, Iran. She suffered from high grade fever and rash followed by multiple joint swelling months afterwards. Bone marrow aspiration and biopsy showed normocellular marrow with a cellularity of 90%. Benign-looking macrophages were remarkably increased; many of them showed hemophagocytic features. According to the presentation of long-standing fever and observation of “hemophagocytic macrophage” in bone marrow, MAS was diagnosed for the patient. Additionally, due to recurrent joint swelling in following months, she was diagnosed to be affected by “Juvenile Idiopathic Arhtritis” complicated by MAS.
MAS is a rare complication of rheumatic disorders which should be considered as the first presentation of rheumatic disorders in children specifically in those presenting with high fever, hepatosplenomegaly, lymphadenopathy and severe cytopenia.

Psychological problems such as depression constitute a dilemma that patients with the implantable cardioverter-defibrillator (ICD) usually encounter and may impact their quality of life. The purpose of this study was to evaluate the prevalence of depression among adults with the ICD and the relationship between depression and associated factors.
Totally, 115 individuals with the ICD participated in this cross-sectional study in Tehran, Iran, and depression and other related risk factors were evaluated in them. Two questionnaires, one for demographic characteristics and the Beck Depression Inventory, were applied for data acquisition. The data were analyzed, and the factors associated with depression in the patients with the ICD were assessed.
The mean age of the study population was 59.85 ± 11.46 years. Males comprised 88 (76.5%) and females 27 (23.5%) of the patients. The multivariate analysis on the 115 patients revealed that frequency of ICD shocks (OR = 1.08, 95%CI: 1.02 - 1.10), male sex (OR = 2.28, 95%CI: 1.027 - 5.07), more hospital admissions (OR = 1.19, 95%CI: 1.11 - 1.25), smoking cessation (OR = 9.8, 95%CI: 4.48 - 20.07), presence of ICD shocks (OR = 4.5, 95%CI: 2.45 - 7.38), dyslipidemia (OR = 2.8, 95%CI: 1.22 - 4.95), and family history of depression (OR = 6.4, 95%CI: 3.0 - 13.46) were significantly and independently associated with the Beck score classifications.
These findings suggest that a poor psychosocial outcome in patients with the ICD may occur as a result of a variety of associated factors, most of which are predictable and preventable.

Self-injury is defined as the intentional injuring of one’s own body without apparent suicidal intent. Self-harm is encountered frequently in psychiatric hospitals. Deliberate self-harm may be found in patients with a variety of diagnoses, including substance abuse, major depression, schizophrenia and especially borderline personality disorder..
This study aimed to investigate the prevalence of self-injury and possible relating factors in patients with psychiatric diseases..
Patients and In this cross-sectional study, 42 patients with self-injury referred to Lavasani hospital in Tehran, Iran, were selected by random sampling during 2013 - 2014. The prevalence of self-injury, site and tools of self-injury and also possible contributing factors were evaluated. T-test and Fisher’s exact test were used to analyze data..
Mean distribution of self-injury in patients was 12.5%. Sharp object was the tool of injury in 90.5% of the patients, 4.8% by fire, 2.4% by stone and 2.4% by other attempted to self-injury. In 76.2% of the patients extremities were the site of injury. In 19%, 2.4% and 2.4% head and neck, trunk and abdomen were the sites of injury, respectively. There was a significant association between type of disorder and tool and body site of self-injury (P It can be concluded that schizophrenia and drug-induced psychotic disorder were the most common types of disorders that are at risk of self-injury..

Botulinum toxin (BTX) type A is now the most often used medicine with an excellent result for upper facial rejuvenation.
This article represents one of the rare adverse effects of the Botulinum toxin type A for cosmetic use in a 50 years-old woman with moderate to severe peri-orbital rhytides. She received four injection of botulinum with six to twelve more interval and 1- day after last injection, she developed mid frontal recurrent episode edema, which spontaneously remitted.
Adverse effects of the Botulinum toxin type A for cosmetic use, should be considered before administration.

Patients with immunosuppression have an increased incidence of toxoplasmosis characterized by involvement of the central nervous system. Only a few cases of toxoplasmosis associated with immunosuppressive agents have been reported. Such cases have been reported in immune suppressed patients outside the Iran, but a search of the literature has not revealed any previous reports from this country.
We described a 17- year -old male, a known case of Hodgkin’s lymphoma with the diagnosis of central nervous system (CNS) toxoplasmosis.
As a conclusion, CNS toxoplasmosis should be considered in the differential diagnosis of immunosuppressed patients who present with neurological manifestations.

Developments in the use of central venous catheters have improved the treatment of critically ill newborns..
The aim of this retrospective study was to evaluate the rate of catheter-related complications and associated risk factors in newborns..
Patients and This cross sectional study evaluated 60 infants with indications for central venous catheters who were selected by census from 2007 to 2014 in Baqiyatallah Hospital in Tehran, Iran. The catheters were Broviac numbers 14 - 16..
Ultimately, 60 cases (17 males and 43 females) with a mean age of 26.25 ± 20.09 days (Min = 1 day and Max = 153 days) underwent analysis. The most common reasons for venous catheter placement (98.3%) were prolonged hospitalization and lack of peripheral vessels. The most common complication was catheter-related infection, which occurred in 20 patients (33.3%). Death occurred in 24 patients (40.0%), but only 3 deaths (5%) were due to complications from the central venous catheter. A significant relationship was evident between infection and catheterization duration (P = 0.02)..
Most of the catheter-related deaths were due to severe sepsis and hemothorax, and a significant relationship was noted between infection and both the mortality rate and catheterization duration. A significant relationship was also evident between birth weight and infection rates..

Student overweight is the most mutual health problem among students. Lifestyle change to immobility is one of the main causes of increasing non-communicable diseases like overweight. The aim of this study was to evaluate overweight in students and its relationship with lifestyle.
In this case-control study, 100 obese students of Birjand, Iran in 2014, and 100 healthy controls matched for age and sex, were randomly selected. Overweight was diagnosed by BMI > 85th reference percentiles. Data were collected via questionnaire. Data were examined using statistical package for social sciences (SPSS) version 16 (SPSS Inc. Chicago, IL) for windows.
One hundred students (54 males and 46 females) with an average age of 14.45 ± 1.45 years as a case group and 100 students matched for age and sex (51 males and 49 females) with an average age of 14.65 ± 1.60 years as a control group were analyzed. Students with a higher economic level of households were significantly more obese (P = 0. 01). It was, in addition, associated with overweight index (P = 0.049), hyperlipidemia (P = 0.001) in Parents, low physical activity and dietary habits. There was no significant relationship between overweight in students and other factors (P = 0.05).
According to our findings, overweight in students had a correlation with overweight and hyperlipidemia in their parents. We also concluded that calories from protein and carbohydrates were associated with an increased body mass index.

Gaucher disease is one of recessive autosomal diseases, wide range of childhood diseases to the absence of symptoms throughout its life. That three types of is more common than other types, that comprises a wide range of clinical findings in childhood and may be seen in different parts of the body but Long bone involvement is common in Gaucher disease.
In this paper, 11-month-old baby girl suddenly lost the ability to walk and her loss of appetite, night sweats, severe irritability and weight reduction, Her parents were healthy and there was not a history of any special disease in both families and She hasn’t had a history of previous hospitalization, so using different tests and biopsies the Gaucher disease was diagnosed.
Careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders. Signs such as splenomegaly, anemia, thrombocytopenia and developmental delay can be signs of Gaucher disease, so the presence of these signs should be investigated.