DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20205108

Bifid epiglottis with midline laryngeal hamartoma: a rare presentation of Pallister Hall syndrome

Saravanamuthu Thirunavukkarasu, Kishore Sandu, Sasikumar Revathy, Singaravelu Ramesh, Selvarajan Namasivayam

Abstract


Bifid epiglottis is a rare laryngeal anomaly that can be an isolated occurrence or as part of malformation syndromes, commonly the Pallister Hall syndrome (PHS). PHS presents with hypothalamic hamartomas, polysyndactyly, bifid epiglottis, imperforate anus and genitourinary abnormalities. We report a case of a 22 months old male child with features of PHS and Hirschsprung's disease. The presentations are with a hypothalamic mass, a bifid epiglottis and a midline mass in the larynx with symptoms of respiratory distress. The laryngeal lesion was endoscopically excised and its histology confirmed as hamartoma (laryngeal). The importance of an early diagnosis of PHS, genetic counselling and prompt management of a compromised airway and endocrine abnormalities is emphasized to have a better outcome.


Keywords


Bifid epiglottis, Pallister Hall syndrome, Laryngeal hamartoma

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References


Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G. Bifid epiglottis: Syndromic constituent rather than isolated anomaly. Pediatr Int. 2010;52(5):723-8.

Stroh B, Rimell F, Mendelson N. Bifid epiglottis. Int J Pediatr Otorhinolaryngol. 1999;47(1):81-6.

Hall J. Pallister-Hall syndrome has gone the way of modern medical genetics. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2014;166(4):414-8.

Li M, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai E. Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. Am J Med Gen. 2015;167(3):617-20.

Azzam A, Lerner D, Peters K, Wiggs E, Rosenstein D, Biesecker L. Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. Clinical Genetics. 2004;67(1):87-92.

Biesecker L, Graham J. Pallister-Hall syndrome. J Med Genetics. 1996;33(7):585-9.

Avula S, Alam N, Roberts E. Cochlear abnormality in a case of Pallister-Hall syndrome. Pediatr Radiol. 2012;42(12):1502-5.

Kuo JS, Casey SO, Thompson L, Truwit CL. Pallister-Hall Syndrome: clinical and MR features. Am J Neuroradiol. 1999;20:1839-41.