Severe Abnormalities of the Pons in Two Infants with Goldenhar Syndrome

Abstract

We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant. At birth the girl showed polydactyly, labiopalatoschisis, right ear agenesis, left eye coloboma and vertebral anomalies. She also had marked hypotonia, severely reduced movements and respiratory and feeding abnormalities. She required gastrostomy at 5 months and tracheostomy at 7 months. Brain MRI scans showed moderate cerebellar hypoplasia and severe abnormalities of the pons with a congenital cleft. The child died at age 12 months. Case 2 is a Caucasian boy. Clinical signs and presentation were similar to case 1. The child also had severely reduced lacrimation, sweating, with thermoregulation abnormalities. He also underwent gastrostomy at 18 months. The child is now 3 years old and is able to sit only with support. Brain MRI was similar to case 1. The association of Goldenhar syndrome and pons abnormalities in 2 subjects suggests that this is more than a mere coincidence. Further studies and characterization of the genes involved in Goldenhar syndrome are needed to establish an adequate genotype-phenotype correlation.

Brainstem Disconnection: Case Report and Review of the Literature

“…Furthermore BD is not seen within the spectrum of pontocerebellar hypoplasias [1,9] . Aside from typical BD, Sener and Pane et al have described abnormalities in the brainstem, but these children showed a cleft instead of a disconnection at the level of the ponto-medullary junction [5,8] . The clefts involved the ventral region of the ponto-medullary junction, whereas the dorsal region was spared.…”

Pontine Tegmental Cap Dysplasia and Challenges in Facial Reconstructive Surgery

“…This is the only reported case in the literature formally documenting a patient with both disease processes. One other report describes 2 children with Goldenhar syndrome and abnormalities of the pons, possibly supporting an underlying connection of the 2 conditions (Pane et al, 2004). There have been reported deaths of patients with PTCD secondary to recurrent infections (Macferran et al, 2010).…”

Goldenhar syndrome: A rare case report

“…[ 26 ] Brain stem involvement detected by magnetic resonance imaging in patients with Goldenhar Syndrome has been also reported; however, the stem lesions are very severe, resulting in a poor general prognosis. [ 27 ]…”