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Question Category:Diagnostic dilemma

8 year old girl of non consanguinous parentagewith diffurs'se thyroid swellig 3years,on dexedrine since 1and1/2 years for ADHD ,average school performance,head circumference-67cm,height ,weight- normalhistory of good growth inspite of anorexia' IQ -67,systems normal,thyroid fuction test normal,thelarche +,Thyroid scan diffuse goitrewhat is the diagnosis     Check out the answer

Question Category:Diagnostic dilemma

50 days old child admitted earlier at 7 days age with history of loss of weight from 2.3 to 1.7 kg referred from peripheral centre after few days of hospital tt.during first admission diagnosed as partially treated suspected sepsis,documented thrombocytopenia presented as rectal bleed treatd with platelet concentrate.recovered start acceptin reast feed.on second admission documented to have repeat low plt 50,000/neutropenia 900/leucopenia2700/crp positive/metabolic acidosis with anion gap 17 /corrected by bicarbonate' what are likely possibility     Check out the answer

Question Category:Diagnostic dilemma

Dear Colleagues, Ihave come across a baby aged 3 months old,born of non consaguiinous marriage.She is a complete albin.Baby had foetal ascites with no leading cause.Ascites subsided prior to delivery only to reappear now.She also has got a splenohepatomegaly.Primary hematological workup and L.F.T. & R.F.T. are normal.Congenital infection workup is negative.We are planning for a liver biopsy.Do we need to do anything else?     Check out the answer

Question Category:Diagnostic dilemma

Jyoti, eight and half years old female child was brought to me with following positive points and investigations: Consanguineous parents ( father and mother were real cousins before marriage) Yellow eyes, anasarca with ascites, red urine ( duration 1 month) with ? burning micturition Past history of hospitalization before five years for fever with altered sensorium –recovered smoothly and completely Family history of consanguinity Two previous male sibs died. First at 7 years age. Cause not known. But he had some ?renal problem at the time of death. Second male sib died at 13 years age with ?chronic liver disease.(papers are not available). Third male sib has mental retardation with gait disturbances. she has apparently normal male sibs, one 23 year old and another 11 years old. On examination , Temp normal . pulse 108/min,BP 130/70 mmof Hg Yellow sclera, anemia, anasarca, ascites, liver 1.5 cm and spleen 1 cm below costal margin Conscious alert awake ,not looking ill Investigations, Hb 9.9 TC 12,100 s.bil total 1.9 ( normal upto 1.2) direct 1.4 ( normal upto 0.4) indirect 0.5 (normal 0.1 to 1.0) SGPT 82 , s. alk phosphatase normal s. protein total 6.1, albumin 2.76, globulin 3.39 bl sugar random 170 urine albumin trace, urine sugar ++ ( child had sugarcane juice prior to urine report but not prior to blood reports), pus cells 13 /hpf and plenty of RBCs/hpf USG abdomen showing right renal and ureteric calculus with mild hydronephrosis with hydroureter. Our further plans: Urine for metabolic screening Bl urea creatinine Liver viral serology and wilson’s disease profile Are we dealing with genetic / metabolic disorder? Can u guide us further?     Check out the answer

Question Category:Diagnostic dilemma

Dear sir Any role for neurosurgery in the managment of microcephalic children?     Check out the answer

Question Category:Diagnostic dilemma

11 mnthsfemale.undereweigt 6.75kg.birth weight 3.1kg. urine ketone test positive random blood sugar and culture normal.urine sugar normal no casts and rbc in urine.milestones normal no hepatomegaly or speenomegaly.test done 3 daya after fever.child passes small quantity of urine.no history of consuanguinity.chid not having epileptic seizures.please reply urgent     Check out the answer

Question Category:Diagnostic dilemma

a two year boy came with history of pain abdomen followed by sweating all over body this happens once in a month what is the diagonosis     Check out the answer

Question Category:Diagnostic dilemma

10 month/F presented with F/S/O ARI.But from very begining she was dull not tachyneic.CNS exam.revealed normal.hepatomegaly 5cm soft nontender.throat -no membrane but tonsil enlaged .CSF normal,SGPT-17,B.SUGER Thrice Came AROUND 50MG/DL,CT scan normal.Blood ammonia could not be done.Is that a possibility? If not what next     Check out the answer

Question Category:Diagnostic dilemma

3month male of nonconsanguinity presented with tonic convulsions with no neck control till time.Routine investigations for convulsions are normal.CT brain showed frontotemporal atrophy,how is that significant at this age . S.ammonia is also 3 times the normal value.Convulsions controlled with 3 drugs.     Check out the answer

Question Category:Diagnostic dilemma

searching for dx in 12 year old female with a h/o mesenteric adenitis x 2 months, occasional hoarse "crow like cough, palor fatigue slight anemia and painful lymph nodes??????     Check out the answer

Question Category:Diagnostic dilemma

2 yrs old male child with recurrent eosinophila. despite treatment with 2 courses of 21 days hetrazan and 1 short course of steroids transient response was seen. further course of action? please post on diagnostic dilemma     Check out the answer

Question Category:Diagnostic dilemma

An infant presenting with Acute upper respiratory tract infection and accompanying vomiting and lethargy. Upper respiratory symptoms subsided but vomiting persisted. Family history was not contributory. There is a doubtful history of contact with Tuberculosis. On examination, the baby was found afebrile with hepatosplenomegaly, vaginal candidiasis. On investigations, the child was found to have ketonuria and glycosuria with euglycemia. Blood picture showed microcytic hypochromic anemia with thrombocytosis and lymphocytosis. Serum uric acid was normal but triglycerides were increased with normal cholesterol. ESR was 6 mm/in first hour. What are the differential diagnosis for this kind of picture?     Check out the answer

Question Category:Diagnostic dilemma

newborn one day old present with excessive sweating ,drowsiness,frothy mouth,grunting,followed by deep sleep family history is positive for previous 2 sibs he died after 2 days. on exam.every thing is normal serum ca. rand. bd sugar both normal     Check out the answer

Question Category:Diagnostic dilemma

7m female infant present with sever vomiting since 4m s.t.projectile .previous 2 deaths in the infantile age without definite dx. On exam. FTTill looking infant dehydrated . vital data are normal.CVS& chest are normal.Abdominal exam. reveal hepatosplenomegaly,no mass.Barium study is suggestive of pyloric stenosis.Surgery was performed.No clear olive was found but just mild thickening which splitted.The liver was enlarged,yellowish not smooth with gritty sensation.Mild bleeding occur from the wound.Questions; 1.Was the surgery mandatory? 2.what is the real dx? 3.What is the mangment? ?     Check out the answer
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