Early Onset Predominantly Diffuse Lung Disease in an Infant of Combined Methylmalonic Acidemia With Hyperhomocysteinemia
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initial manuscript, and reviewed and revised the manuscript; DD, AD: designed the data collection instruments, collected data, carried out the initial analyses, and reviewed the manuscript. NZ, VP: conceptualized and designed the study, coordinated and supervised data collection, and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. Funding: None; Competing interest: None stated. DIMITRA DIMOPOULOU,1* ANASTASIA DIMOPOULOU,2 SMARAGDI FESSATOU,1 NIKOLAOS ZAVRAS3 AND VASSILIKI PAPAEVANGELOU1 1Third Department of Pediatrics, Attikon University Hospital; 2Department of Pediatric Surgery, Attikon University General Hospital; and, 3Faculty of Medicine, National and Kapodistrian University of Athens; Athens, Greece. *[email protected]
REFERENCES 1. Fitzgerald RJ, Harding B, Ryan W. Fistula-in-ano in childhood: Congenital etiology. J Pediatr Surg. 1985; 20:80-1. 2. Chang HK, Ryu JG, Oh JT. Clinical characteristics and treatment of perianal abscess and fistula-in-ano in infants. J Pediatr Surg. 2010;45:1832-6. 3. Ezer SS, Oguzkurt P, Ince E, Hiçsönmez A. Perianal abscess and fistula-in-ano in children: Etiology, management and outcome. J Paediatr Child Health. 2010;46:92-5. 4. Whiteford MH. Perianal abscess/fistula disease. Clin Colon Rectal Surg. 2007;20:102-9. 5. Brook I, Frazier EH. The aerobic and anaerobic bacteriology of perirectal abscesses. J Clin Microbiol. 1997; 35:2974-6.
Contributors: DD, AD, SF: conceptualized the study, drafted the
Early Onset Predominantly Diffuse Lung Disease in an Infant of Combined Methylmalonic Acidemia With Hyperhomocysteinemia Cobalamin C Type
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homocysteinemia and diffuse lung disease (DLD) has rarely been reported in infants [6].
levated blood methylmalonic acid (MMA) levels combined with elevated homocysteine is called combined methylmalonic acidemia with hyperhomocysteinemia [1,2]. It is found that MMA may damage the central nervous system, retina, liver, kidneys and blood cells. It also causes macular coloboma, thrombotic microangiopathy [3], and sometimes pulmonary arterial hypertension (PAH) [4,5], but an association between combined methylmalonic acidemia with hyper-
INDIAN PEDIATRICS
A 7-month-old boy was admitted with complaints of pallor for 30 days. It was followed by cough 8-10 days later. Personal history showed delayed motor development. The child was hospitalized in a local hospital for respiratory distress. Investigations showed white blood cell count of 9.78 X109/L, hemoglobin of 6 g/L, platelet count 319X109/L, and reticulocytes of 9%. High resolution computed tomography (HRCT) scan of the lungs revealed diffuse lesions in both lungs. Cytomegalovirus DNA detection revealed 5.08x105 copies/mL in sputum. Injection meropenem, azithromycin, voriconazole and ganciclovir were administered. In spite of the above treatment, child continued to have progressively worsening respiratory difficulty. He was intubated transferred to our hospi
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