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Bluish discoration

Q: I am house oficer of BPKIHS dharan, Nepal in pediatrics deparment. I am writing a case summary of one of our patient in ward. 7 months old female child came with c\o of wt of child-6kg, cough and fast breathing for 2 months distension of abdomen-15 daysno significant past\family\birth \perinatal history development milestone; neck holding - not till now reaches out for object-5 months hand to mouth-5 months socialsmile-2.5 months speech-6.5 months one axmiantiononly positive findings are; bluish discoration present over anteroir abdominal wall and back since birthsize 1x1 cm coarse facies, flat occiput, hyperteleroism, open mouth with protuded tongue cherry red spot in funduscopy after ophtalmology consultationchest-b\l coarse crepitations present p\a: hepatosplenomegaly protuberant abdomen liver -10 cm below right costal margin, span in 12.5 cm, firm , non tender, well defined margin , smooth surface spleen; 10.5 cm enlargedcns: hypotoniainvestigation done:cbc-wnlusg abdomen: hepatosplenomegaly with mesentric adenopathyVDRL;negativeblood c\s -sterileCXRPA view: b\l patchy infiltration +BONe marrow aspiration and cytology report -awaitedchild is on conservative treatment with inj. crystalline penicillin\inj gentamicin\ and astahlin nebulisationour D\D are1. storage diseases: mucopolysacchariodosis\sphingolipidosis\tay sac\nieman pick disease2.congenital TORCH infection so I would be highly obliged if you give me valuable suggesstion.

A:On reviewing the history and findings presented by you it is possiblethat the child has a storage disorder which shall be revealed when we get areport on the Bone marrow for lipid laden cells suggestive of Niemann Pickdisease. Children with Tay Sachs generally present with hyperacusis andhave severe mental retardation. These are the only two diseases which canexplain a cherry red spot on the macula. However , one would like to keepin mind the possibility of disseminated Tuberculosis with a largehepatosplenomegaly and bilateral chest infiltrates. Also get the HIV statuschecked since these children tend to pick up strange infections likePneumocystis etc.. Congenital Hypothyroidism is a possibility with coarsefacies and a protuberant abdomen and tongue. MPS can be ruled out with askeletal survey and a urine test with Toluidine Blue. It would be usefulto get a CT scan of the chest and abdomen to look for mediastinal glands andany liver or spleen granulomas. With the information provided this is thebest I can do to help you with the differential diagnosis.


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