International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access
Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc
Journal website

Case Report

Volume 4, Number 2-3, October 2015, pages 154-157

Congenital Hyperinsulinism and Cochlear Hypoplasia in a Rare Case of Pallister-Hall Syndrome


Figure 1.
Figure 1. MRI of bilateral hypoplastic cochlea with reduced number of apical and basal turns (white arrows).
Figure 2.
Figure 2. MRI of large hypothalamic hamartoma (white arrows).


Table 1. Clinical Features of Pallister-Hall Syndrome [4]
Hypothalamic hamartomaNon-enhancing mass in the floor of the third ventricle posterior to the optic chiasm
Mesoaxial polydactylyPresence of six or more well-formed digits with a “Y”-shaped metacarpal or metatarsal bone
Post axial polydactyly (PAP)PAP-A is the presence of a well-formed digit on the ulnar or fibular aspect of the limb. PAP-B is the presence of a rudimentary digit or nubbin in the same location
Bifid epiglottisMidline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf.
Other featuresImperforate anus, renal abnormalities including cystic malformations, renal hypoplasia, ectopic ureteral implantation, genitourinary anomalies including hydrometrocolpos, pulmonary segmentation anomalies including bilateral bilobed lung.


Table 2. Syndromes Associated with Congenital Hyperinsulinism [3]
Trisomy 13
Mosaic Turner
Central hypoventilation syndrome
Leprechaunism (insulin resistance syndrome)