Diagnostic Dilemma

Recurrent infections

A 9 year old girl born of non consanguineous marriage presented with recurrent cough with copious sputum more in morning and breathlessness since 1 year of age. She had joint pains with morning stiffness in small joints of hands and feet which gradually involved knees and elbows with restriction of movement and swelling in joints since 6 months. She was hospitalized for pneumonia at 3 years of age, hepatitis at 3½ years of age, malaria at 4 years of age, chickenpox at 6½ years of age. She was treated with antituberculous therapy at 3 years of age for 6 months in view of non-resolving pneumonia even though Mantoux test was negative. She was started on Methotrexate {10 mg, week} for joint involvement 5 months back. Her RA factor and ANA were negative at that time. She was seventh of eight siblings and other family members were normal. She was full term normal delivery with birth weight of 3.5 kg and was immunized till date. She had achieved normal motor milestones though speech was delayed and she was studying in 2nd standard with poor school performance. On examination, she had microcephaly {head circumference = 42 cm}, was short {height = 118.5 cm, weight = 17 kg} and had sloping forehead with parrot shaped nose. She had pallor with insignificant cervical lymphadenopathy and bilateral coarse crepitations with mild hepatosplenomegaly. Joints were normal and she had clubbing. Other systems were normal. She was diagnosed as Bronchiectasis with juvenile idiopathic arthritis and suspected to have Seckel’s syndrome.

Investigations showed:
• Hemoglobin = 10.7 gm, dl
• WBC = 10,900, cumm {75 percent polymorphs, 20 percent lymphocytes, 3 percent eosinophils, 2 percent monocytes}
• ESR = 8 mm at end of 1 hour
• Platelet count = 3,41,000, cumm
• Stool = Normal
• Liver and renal function tests = Normal
• ABG = pH=7.443, pO2 = 69 mm Hg with saturation of 93.2 percent and pCO2 = 33.2 mm Hg.
• CT Chest showed = Multiple lymphnodes in Mediastinum with bronchiectasis in right middle lobe and left upper lobe with consolidation in right middle lobe
• HIV ELISA test: Negative.
• Blood gases: No metabolic alkalosis.

What is the diagnosis _?
Expert Opinion :
Her serum immunoglobulins and CD panel has been sent for common variable immunodeficiency. Her platelet count is normal
Answer Discussion :
Maher Salem
IMMunodefecient disorder .
14 years ago
abhijit kale
combined variable immunodeficiency
14 years ago

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