Gómez‐López‐hernández syndrome versus rhombencephalosynapsis spectrum: A rare co‐occurrence with bipartite parietal bone

Abstract

Rhombencephalosynapsis (RES) is a rare hindbrain malformation that could occur in isolation or as a part of a syndrome for example, Gómez-López-Hernández syndrome (GLH) or VACTERL-H. We identified male patient with severe RES. Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. Interestingly, he additionally had bilateral bipartite parietal bone (BPB) that is an extremely rare anomaly of the parietal sutures. This is the first co-occurrence of this rare anomaly with GLH. We believe the presence of this unique finding could represent an important clue for understanding the pathogenesis of this malformation.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome

“…While multiple mechanisms have been proposed, the etiology of RS remains unclear and there have been no specific chromosomal abnormalities identified to date [Utsunomiya et al, 1998;Sarnat, 2000;Yachnis 2002;Pasquier et al, 2009;Ishak et al, 2012;de Mattos et al, 2014;Whitehead et al, 2014]. It is important to note that RS has been associated with syndromes other than GLHS, including holoprosencephaly and VACTERL association Tully et al, 2012;Weaver et al, 2013;Abdel-Salam et al, 2014]. This patient demonstrated areflexia in the newborn period, which is not a typical feature of RS or GLHS, and may be related to other health risk factors in this child.…”

“…In some cases, patients with GLHS may have features of VACTERL association. Phenotypic features seen in some previous cases of GLHS have included hypertelorism, downslanted palpebral fissures, and low-set ears [Gomez, 1979;Lopez-Hernandez, 1982;Whetsell et al, 2006;Bowdin et al, 2007;Chemli et al, 2007;Fernandez-Jaen et al, 2009;Tully et al, 2012;Rush et al, 2013;Abdel-Salam et al, 2014]; however, these are by no means unique to GLHS. A recent paper proposed diagnostic criteria for GLHS: patients with the triad of RS, scalp alopecia, and trigeminal anesthesia are said to meet diagnostic criteria.…”

“…Gó mez-Ló pez-Hernández syndrome (GLHS: OMIM 601853) or cerebellotrigeminal dermal dysplasia is defined by a constellation of findings including incomplete or absent rhombencephalic cleavage, parieto-occipital alopecia, and an inconstant trigeminal dermatome anesthesia [Gomez 1979;Lopez-Hernandez 1982;Ishak et al, 2012;Tully et al, 2012;Rush et al, 2013;Weaver et al, 2013;Abdel-Salam et al, 2014;de Mattos et al, 2014]. While the clinical findings of trigeminal anesthesia in GLHS have been well documented, imaging of the abnormally developed trigeminal nerve and its associated skull base foramina has not been previously described.…”

Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature

“…Rhombencephalosynapsis is observed not only in the case of GLHS, but as an isolated phenomenon as well as in combination with other brain malformations (1). Symptoms, concomitant to GLHS triad, are hydrocephalus, craniosynostosis, midfacial hypoplasia and low set ears, as well as bilateral corneal opacities, ocular hypertelorism-telecanthus, strabismus, clinodactyly of fifth fingers, short stature and intellectual impairment (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15).…”

“…To our knowledge, a total of 36 cases of GLHS have been described since the first reports of this clinical condition by Gomez (12) and Lopez-Hernandez (14). Symptomatology of GLHS varies from patient to patient (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15) and further case studies are important to complete the clinical description of this disease.…”