Case Reports

Howarth DM, Gilchrist GS, Mullan BP, Wiseman GA, Edmonson JH, Schomberg PJ. Langerhans’ cell histiocytosis: diagnosis, natural history, management, and outcome. Cancer. 1999;85:2278–2290. Gadner H, Minkov M, Grois N, Pötschger U, Thiem E, Aricò M, et al. Therapy prolongation improves outcome in multisystem langerhans cell histiocytosis. Blood. 2013;121:5006–5014. Duwe BV, Sterman DH, Musani AI. Tumors of the mediastinum. Chest. 2005;128:2893. Munn S, Chu AC. Langerhans cell histiocytosis of the skin. Hematol Oncol Clin North Am. 1998;12:269–286. Bernstrand C, Cederlund K, Henter JI. Pulmonary function testing and pulmonary langerhans cell histiocytosis. Pediatr Blood Cancer. 2007;49:323–328. Ducassou S, Seyrig F, Thomas C, Lambilliotte A, Berard PM, Berger C, et al. Thymus and mediastinal node involvement in childhood langerhans cell histiocytosis: long-term follow-up from the french national cohort. Pediatr Blood Cancer. 2013;60:1759–1765. Mogul M, Hartman G, Donaldson S, Celb A, Link M, Amylon M, et al. Langerhans cell histiocytosis presenting with the superior vena cava syndrome: A case report. Med Pediatr Oncol. 1993;21:456–459. Elliott M, Kokai GK, Abernethy LJ, Pizer BL. Spontaneous resolution of isolated thymic Langerhans cell histiocytosis. Med Pediatr Oncol. 2002;38:274–276. Hernandez Perez JM, Franquet CT, Rodriguez S, Giminez A. The langerhans cell histiocytosis with thymic localization as initial and exclusive place. Ann Med Interna. 2007;24:497–499. Khadilkar UN, Rao ATK, Sahoo KK, Pai MR. Langerhans cell histiocytosis of mediastinal node. Indian J Pediatr. 2008;75:294–296. Bose HS, Sugawara T, Strauss JF 3rd, Miller WL. International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335:1870–1878. Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, et al. Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metab. 2005;90:6303–6309. Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, et al. Analysis of the steroidogenic acute regulatory protein (STAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet. 1997;6:571–576. Chen X, Baker BY, Abduljabbar MA, Miller WL. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab. 2005;90:835–840. Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, et al. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab. 2006;91:4781–4785. Lekarev O, Mallet D, Yuen T, Morel Y, New MI. Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene. Eur J Pediatr. 2012;171:787–793. Baquedano MS, Guercio G, Marino R, Berenssztein E, Costanzo M, Bailez M, et al. Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98:153–161. Abe K, Aizawa T, Maebayashi T, Nakayama H, Sugitani M Sakaguchi M, et al. Isolated tuberculous liver abscess invading the abdominal wall: report of a case. Surgery Today. 2011;41:741–744. Desai N, Patil S, Thakur BS, Das HS, Manjunath SM, Sawant P. Abdominal wall abscess secondary to subcapsular tubercular liver abscess. Indian J Gastroenterol. 2003;22:190–191. Gupta G, Nijhawan S, Katiyar P, Mathur A. Primary tubercular liver abscess rupture leading to parietal wall abscess: A rare disease with a rare complication. J Postgrad Med. 2011;57:350–352. Mohanty D, Jain BK, Gupta A, Agrawal V. Chest wall abscess: An atypical presentation of isolated tuberculous liver abscess. Acta Biomed. 2009;80:77–79. Olivieri NF, Weatherall DJ. Thalassemias. In: Arceci RJ, Hann IM, Smith OP, eds. Pediatric Hematology. 3rd ed. Oxford, UK: Blackwell Publishing Ltd; 2006. p. 281–304. Farmakis D, Giakoumis A, Polymeropoulos E, Aessopos A. Pathogenetic aspects of immune deficiency associated with beta-thalassemia. Med Sci Monit. 2003;9:19–22. Sherlock S, Dooley J. Tuberculosis of liver. In: Sherlock (Ed), Diseases of the Liver and Biliary System, 11th edition, Oxford: Blackwell Science, 2002. p. 501. Chaudhary A, Wakhlu A. Isolated tubercular liver abscess in pediatric age group. Int J Trop Med. 2005;2:2. Wang SC, Lin KH, Chem JP, Lu MY, Jou ST, Lin DT, et al. Severe bacterial infection in transfusion-dependent patients with thalassemia major. Clin Infect Dis. 2003;37:984–988. Sawhney S, Woo P, Murray KJ. Macrophage activation syndrome: a potentially fatal complication of rheumatic disorders. Arch Dis Child. 2001;85:421–426. Kounami S, Yoshiyama M, Nakayama K, Okuda M, Okuda S, Aoyagi N, et al. Macrophage activation syndrome in children with systemic-onset juvenile chronic arthritis. Acta Haematol. 2005;113:124–129. Grom AA. Macrophage activation syndrome and reactive hemophagocytic lymphohistiocytosis: the same entities? Curr Opin Rheumatol. 2003;15:587–590. Rigante D, De Rosa G, Bertoni B, Ansuini V, Pardeo M, La Torraca, et al. Large pericardial effusion requiring pericardiocentesis as cardinal sign of macrophage activation syndrome in systemic onset-juvenile idiopathic arthritis. Rheumatol Int. 2007;27:767–770. Ravelli A, Magni-Manzoni S, Pistorio A, Besana C, Foti T, Ruperto N, et al. Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Pediatr. 2005;146:598–604. Ravelli A. Macrophage activation syndrome. Curr Opin Rheumatol. 2002;14:548–552. Grom AA, Villanueva J, Lee S, Goldmuntz EA, Passo MH, Filipovich A. Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J Pediatr. 2003;142:292–296. Buyse S, Teixeira L, Galicier L, Mariotte E, Lemiale V, Seguin A, et al. Critical care management of patients with hemophagocytic lymphohistiocytosis. Intensive Care Med. 2010;36:1695–1702. Makay B, Yilmaz S, Türkyilmaz Z, Unal N, Oren H, Unsal E. Etanercept for therapy resistant macrophage activation syndrome. Pediatr Blood Cancer. 2008;50:419–421. Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng X, Lai M, et al. Anti-NMDA receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol. 2008;7:1091–1098. Armangue T, Titulaer MJ, Malaga I, Bataller L, Gabilondo I, Graus F, et al. Pediatric anti NMDAR encephalitis: clinical analysis and novel findings in a series of 20 patients. J Pediatr. 2013;162:850–856. Ishiura H, Matsuda S, Higashihara M, Hasegawa M, Hida A, Hanajima R, et al. Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab. Neurology. 2008;71:1921–1926. Florance NR, Davis RL, Lam C, Szperka C, Zhou L, Ahmad S, et al. Anti-Nmethyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents. Ann Neurol. 2009;66:11–18. Praneeta D, Tamma MD, Allison L. Behaviour outbursts orofacial dyskinesias and CSF pleocytosis in a healthy child. Pediatrics. 2011;12-8:2242–2245.