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1.
Ann Med Surg (Lond) ; 85(12): 6294-6297, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38098549

RESUMO

Introduction: Infantile leukaemia is an uncommon haematological cancer that manifests within the first year of life. This malignancy is highly aggressive and possesses distinctive immunophenotypic, cytogenetic, and molecular attributes. It can originate from either myeloid or lymphoid cells. It often exhibits a higher incidence among females. Case presentation: A 1-month-old male infant, initially seemingly healthy, presented with irritability and feeding difficulties. Born without complications, routine neonatal assessments appeared normal, and physical examination revealed no abnormalities. However, laboratory tests indicated an extremely high white blood cell count, low platelets, and elevated haemoglobin. Further examinations showed a white blood cell count of 1450 × 106/l with a blood film revealing significant leukocytosis dominated by blast cells. Abdominal ultrasound confirmed hepatosplenomegaly which was not present during pregnancy. Subsequent bone marrow analysis and flow cytometry established a diagnosis of B-cell acute lymphoblastic leukaemia (B-ALL). Clinical discussion: It is rare for infantile ALL to manifest within the first month after birth. In most cases, the diagnosis is established before birth. When characteristic signs such as hepatosplenomegaly, leukaemia cutis, or infiltrative involvement of the extramedullary and central nervous systems are present, postnatal diagnoses are relatively straightforward. However, there are instances where children present with non-specific and ambiguous symptoms that resemble other medical conditions. Conclusion: This case underscores the importance of paediatricians being vigilant and attuned to the subtle indicators that differentiate common illnesses from serious conditions such as infantile ALL.

2.
Ann Med Surg (Lond) ; 85(10): 5219-5222, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37811104

RESUMO

Introduction: In hemoglobinopathies, a basic lesion alters the rate of globin synthesis or the structure of the globin in healthy hemoglobin (Hb). Genetic instructions are used to synthesize the polypeptide chains that make up globin chains. The kind and extent of the structural aberration of the Hb molecule are closely related to the clinical features. Hematologically, the heterozygous form of the Lepore syndrome has a pattern resembling minor thalassemia, and electrophoretically, it is characterized by aberrant Hb Lepore fractions at a rate of 5-15% and a decreased percentage of HbA and mildly increased HbF. Clinically speaking, Hb Lepore heterozygotes patients are asymptomatic and resemble the clinical picture of patients with mild thalassemia. Case Presentation: A 28-year-old female came to our attention for assessment of generalized weakness and fatigue for a 4-month duration. Laboratory evaluation, including complete blood count, showed mild microcytic hypochromic anemia with parameters resembling the thalassemia trait. Iron profile studies were normal. Abdominal ultrasound showed mild splenomegaly. Hb electrophoresis was performed and showed an abnormal high-performance liquid chromatography pattern with an abnormal Hb band, mild elevated HbF, and mild reduction in HbA. The interpretation of the Hb electrophoresis curve suggested heterozygosity for beta chain variant Hb Lepore. Discussion and Conclusion: Hb Lepore is one of the structural Hb variants with a characteristic fusion gene between the delta and beta chains. Hematologically, the heterozygous form of the Lepore syndrome has a pattern resembling the thalassemia trait. In Palestine, the prevalence of Hb Lepore, either homozygous or homozygous state, is unknown.

3.
Ann Med Surg (Lond) ; 85(4): 1158-1161, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37113839

RESUMO

Gout is a metabolic disease characterized by recurrent episodes of acute arthritis. Gout has been reported in many locations but is rarely localized in the shoulder joint. Case presentation: A 73-year-old man who visited an outpatient clinic with the main complaint of a right shoulder ache lasting 2 weeks came to our attention. The patient reports his discomfort as being of an unbearable character, happening largely at night and preventing him from falling asleep. In the previous 6 months, he had two episodes of the same ailment that lasted around 3-5 days each and spontaneously resolved. Due to the pain's continuance without improvement, the patient now seeks medical assistance. Gout with right shoulder involvement was identified as the cause. Prednisolone 40 mg/day for 10 days, allopurinol 300 mg/day, and colchicine 0.5 mg/day were all prescribed for the patient. After 6 months of follow-up, the patient had significantly improved. Discussion and conclusions: The condition of gout affecting the shoulder joint is quite rare. According to past medical history and clinical manifestations, doctors and orthopedic surgeons should take gouty shoulder arthritis into consideration when there is serious erosion.

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