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A 35-year-old female resident of Vadgaon, Pune, a housewife with no known comorbidities or addictions, presented to the casualty department with complaints of easy fatiguability over the past one to two days and generalized weakness for the past 4-5 days. She denied any chest pain, breathlessness, palpitations, bleeding manifestations, decreased urine output, edema, abdominal bloating, GI disturbances, fever, or a history of diabetes, hypertension, tuberculosis, bronchial asthma, or ischemic heart disease. The patient had a previous history of similar illness, having been admitted four times with the same symptoms one year ago in July 2022. Her CBC revealed Hb/TLC/PLT/ MCV were 3/11300/578000/99 respectively. She had received three pints of packed cell volume (PCV) transfusion and was treated for megaloblastic anaemia. In November 2022, she complained post discharged medication and experienced a similar illness; underwent blood tests revealed Hb/TLC/PLT/ MCV were 3/11000/557000/99, HPLC showed Hb/RBC/MCV/HbA/1 HbA2/HbF were 3/1.13/104/91.1/2.4/5.3, Sickle cell window was negative, Sr. Iron/TIBC/Transferritin were 80/210/33, Stool for OB was negative, LDH 319, and Retic count 0.5 and she received another three pints of PCV transfusion. Her PBS mod leucocytosis neutrophilic shift to the left up to myelocytes. Her toxic granules are seen as predominantly normocytic normochromic. Anisopoikilocytosis was observed. Teardrop cells were present, Vitamin B12 was 591, HHH was negative, and USG showed mild splenomegaly, so she was admitted. In January 2022, she was admitted again with generalized weakness and dyspnea on exertion. Further blood tests showed Hb/TLC/PLT/ MCV were 3.9/9260/538/101, PBS anisocytosis, monocytosis, and retic were normal. Bone marrow aspiration and biopsy were performed. S/o hypercellular marrow and Trilineage hematopoiesis. Mild splenomegaly was observed on ultrasound. Patient RA factor was negative, PBS for MDS panel was sent, which was negative, and BMA and Biopsy karyotyping was done for any haematological malignancy, which was also negative. ANA by IF was positive and showed a nuclear-speckled pattern. Patient Jak 2 mutation was negative. The patient was discharged after receiving four pints of PCV transfusion. She did not follow up as advised and returned in March 2023 with persistent generalized weakness and dyspnea on exertion. Repeat blood tests revealed Hb/TLC/PLT/ MCV/Retic were 2.12 /13.2/639/97/1.6. Her DCT ICT and stool for OB were negative. The patient's blood group is A+ve. Her RFT and LFT were withing normal llimit. Her HHH, and Elisa were negative. Patient PBS macrocytes with occasional pencil cells seen. Mod hypochromia present. Her WBC shift to the left up to band forms presents PLT mildly increased. Bone marrow aspiration and biopsy were performed again, showing hypercellular marrow with trilineage hyperplasia and reactive bone marrow. Mild hepatosplenomegaly and a right ovarian simple cyst were observed on an abdominal CT scan. OGD scope revealed grade A esophagitis with duodenal fissuring. Duodenal biopsy results were normal. The patient received five pints of PCV transfusion and was discharged with a diagnosis of pyridoxine-sensitive macrocytic anaemia. She was advised to follow up in one month with Pyridoxine 600 mg once daily. However, after one month, she presented again with generalized weakness, and her Hb/TLC/PLT/ MCV/Retic were 5.3 /10/500/96/0.5 found on a blood test. PBS anisopoikilocytosis, Normocytes normochromic, occasional macrocytes, tear drop cells, and no schistocytes were found. Her RFT, LFT, and TFT were within normal limits. Further examinations and vital signs were within normal limits. There were no rashes, nail changes, or tongue moist found. Overall, no clinically palpable organomegaly or Lymphadenopathy was found. What is an appropriate diagnosis?
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Dr. NIRDOSH SAFAYA
Pediatrician
· Dehradun
This is congenital Lymphedema