14 years old female patient came with the chief complaint of decreased urine output since 1 week,cough without expectoration since 1 week. Hopi:decreeased urine output since 1 week Gradual in onset Pain during micturition No h/o abdominal pain H/o fever present H/o vomitings (2) episodes Past h/o :no similar illness in the past H/o learning difficulty On further evaluation patient said that she is having amenorrhea since past 6 months Investigations done: Cbp-hb 4.1gm% Tc-10600 cells/mm3 Platlets-4.9 lakhs Pcv-16% Blood sugar-143mg/dl Blood urea-20mg/dl S.creatinine-0.8mg/dl Lft normal Chest x ray normal study Peripheral smear -severe microcytic hypochromic anemia Reticulocyte count-4.1% Platlets-approx 5lakhs/mm3 Many polychromatophils Moderate anisopoikilocytes Family h/o non consanguinous marriage of parenting Patient has 2 sibilings,males,one male child has alopecia 2d echo done normal Usg abdomen done- normal Pt unable to afford for ANA,anti dna ab test. On examination pt conscious oriented afebrile Cbs s1 s2 heard no murmurs Rs bilateral air entry present Cns no focal neurological defects Pt has hypertelorism Low set ears Alopecia High arched palate Reverse mangolian slantpatients mother has similar features

(Edited)

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Ectodermal dysplasia anhidrotic type...

Next line of investigations sir?
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Hb electrophoresis to rule out iron deficiency anaemia or thalassemia.

Thank you ma’am
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I agree with drdharamrajan sir

Thank you sir
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Iron deficiency anaemia /thalassemia

Thank you ma’am
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Anemia of cronic disease/ IDA/Thalassaemia/ syndomic ANA, anti DS DNA, bone marrow, karyotyping

Thank you sir
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fanconis anaemia leukaemia

Thank you sir
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thalassaemia

Thank you sir
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Iron deficiency anemia..dd- rule out thalasssemia

Thank you sir
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Congratulations! Your case has been selected as Case of the day and you have been awarded 5 points for sharing the case. Keep posting your interesting cases, Happy Curofying!

??autoimmune hemolytic anemia with SLE

The patient’s brother is also having similar features appearance sir,so male child involvement,so sle is doubtful?
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