Grand Rounds

Sibling deaths due to infections

Pediatric Infectious Diseases Clinic, V Care Polyclinic, Mumbai, Maharashtra, India

Address for Correspondence: Dr Ira Shah, 1/B Saguna, 271/B St Francis Road, Vile Parle West, Mumbai 400056.

Keywords: Hyper IgM syndrome, HIGM, hepatitis

Clinical Problem :
A 6-month-old boy born of second-degree consanguineous marriage presented with diarrhea, papular reddish lesions over hands & feet and chronic bilateral ear discharge since 3 months of age. His eldest brother had died at 8 months of age due to respiratory infection. The 2nd sibling was an 8-year-old sister and was asymptomatic. The 3rd child was a girl who died at 2 years of age due to repeated skin infections and fever since 6 months of age. The 4th child was a boy who died at 18 months of age due to repeated skin infections and empyema. On examination, the present child had a maculopapular erythematous rash over the scalp, around the eyelids, hands, umbilical region, and perianal region with bilateral purulent otorrhea with hepatomegaly. Hemogram revealed eosinophilia [Hemoglobin = 11.8 gm/dl, WBC = 17,300 cells/cumm, 25% polymorphs, 61% lymphocytes, 11% eosinophils, 3% monocytes with absolute eosinophil count = 1903 cells/cumm, Platelets = 2,80,000/cumm and ESR = 5 mm at end of 1 hour]. HIV ELISA was negative. Serum immunoglobulins by nephelometry S. IgA = 46 mg/dl (Normal = 31-67 mg/dl), S. IgE = 148 µ/ml (Normal = 0-378 µ/ml), S. IgM = 139 mg/dl (Normal = 43-118 mg/dl), S. IgG = 300 mg/dl (Normal = 716-1103 mg/dl). His CD panel by flow cytometry was normal [CD3 = 4807/cumm (Normal = 1375-3769/cumm), CD4 = 1378/cumm (Normal = 174-1388/cumm), CD8 = 2199/cumm (Normal = 231-2394/cumm), CD19 = 1386/cumm (Normal = 739-2523/cumm)]. His ear swab grew candida albicans and staphylococcus aureus and stool culture grew E. Coli with stool routine showing 15-20 pus cells/hpf. Liver transaminases were elevated (SGPT = 172 IU/L) which reverted to normal after 15 days and USG abdomen revealed coarse echotexture of liver suggestive of liver parenchymal disease. He was treated with intravenous (IV) amikacin, TMP-SMX and fluconazole. He was started on TMP-SMX prophylaxis and advised regarding monthly Intravenous Immunoglobulin (IVIG) and bone marrow transplant.

What is the diagnosis?
What is the diagnosis?
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