Early Onset Predominantly Diffuse Lung Disease in an Infant of Combined Methylmalonic Acidemia With Hyperhomocysteinemia Cobalamin

Though the stool culture was negative, purulent discharge culture revealed Klebsiella oxytoca and Proteus mirabilis and the culture of perianal skin revealed Klebsiella oxytoca, Enterobacter cloacae and Escherichia coli. The patient was seronegative for HSV 1 and 2. Rectosigmoidoscopy was unremarkable and pathology did not reveal any evidence of underlying inflammatory bowel disease; colonic biopsy revealed only moderate alterations suggestive of active focal erosive rectitis. Additional investigations with polymerase chain-reaction in the blood, skin lesion and rectal tissue for Herpes viruses (HSV1, HSV2, VZV, EBV, CMV) were also negative. Empiric antimicrobial treatment with cefotaxime, clindamycin, metronidazole and acyclovir was initiated and continued for 14 days. The clinical course was favorable with complete clinical resolution (Fig. 1b). In the follow-up period for next two years, child continued to remain well with no stool incontinence.