Diagnostic Dilemma

What else?


Author:
Question
A young couple, blood related to each have a big problem .They have 6 children, 3 alive & 3 died due to unknown cause. Those who died usually the problem started at the age 4-6months as chest infection which is resistant to treatment. Those who died are both male & female. The 1st died at 4months, 2nd died at 6months, 3rd died at 2 years of age after a protracted course of illness which started as lower respiratory tract infection & lymphadenopathy. The ages of the children who are alive are 8 years (female), 3 years (female) and 18 months (male). The 1st & 3rd children are totally normal. The 2nd child who is 3 years (female) runs the same illness: lower respiratory tract infection, lymphadenopathy, FTT which has progressed to chronic lung disease with clubbing of fingers and chronic facial widespread skin infection.

Those who died & this patient are fully vaccinated, while those survived are not vaccinated.

On examination of the 3 years old girl:
• Chronically ill child, underweight, dyspneic with clubbing of fingers
• Vital signs are normal apart from tachypnea
• Generalized lymphadenopathy
• Resp. system: Bilateral rhonchi & crepitations
• CVS. System: normal
• Soft abdomen, mild hepatosplenomegaly

Investigation:
• CBC: normal
• SGOT + SGPT: normal
• Blood urea & creatinine: normal
• Immunoglobulin assay: normal
• ESR: 50
• Sweat test: normal
• Toxoplasmosis titer: negative
• Blood, urine, stool culture: negative
• Mantoux test (Tuberculin) reaction: negative
• ACE: normal
• Sputum for Tb bacilli: negative
• Gastric aspirate for Tb bacilli: negative
• Bone scan: normal
• Abdominal sonar: normal
• Chest X-ray & CAT scan chest: Infection & hilar lymphadenopathy + lung fibrosis.
• Lymph node & lung biopsy: Follicular hyperplastic lymphadenitis with evidence of progressive transformation of germinal centers & occasional mini clusters of epitheloid & giant cells without true granuloma formation or caseation necrosis. This is most consistent with: (a). progressive transformation of germinal centers, (b). Toxoplasmosis & other specific (none-TB) infection.
• The skin lesion seen by an expert dermatologist: TB of skin.


What is your opinion about this case?
Expert Opinion :
Basically after 4 months of treatment, the type of TB bacilli that may be persisting in the organ would be semi growing organisms and dormant bacilli. The best drug to be used for semi growing organisms is rifampicin. INH acts best on fast growing organisms and thus has not much of a role here except to prevent resistance to rifampicin. Ethambutol does not act on semi growers and thus it would be necessary to shift the child back to INH and Rifampicin.
Answer Discussion :
t-cell mediated immune difeshency
19 years ago
t-cell mediated immune difeshency
19 years ago

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