ESPE Abstracts

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body proportions were regular, IGF1 levels were low, bone age was delayed (3 years and 8/10). Stimulation test for GH secretion revealed a GH deficiency (arginine peak 2.2 ng/ml, glucagon peak 6.9 ng/ml). MR imaging showed hypophyseal hypoplasia and a stubby, thickened, and inferiorly dropped optic chiasm with normal signal intensity. In sagittal images was also noted a dysmorphic hypothalamic infundibulum and pituitary stalk. An interesting findings was a direct communication between the third ventricle and the sellar cavity, suggesting a Persisting Embryonal Infundibular Recess (PEIR), the absence of sphenoidal meningocele was carefully proven . The sella was mildly enlarged, clival hypoplasia was noted. Additional findings were: a corpus callosum body and splenium partial agenesis and a small interhemispheric arachnoid cyst, impaired rotation of the hippocampal cortex. Due to the possible association of intracranial vascular abnormalities in patient with Morning Glory Syndrome, the study was integrated with an MRA that detected bilateral supraclinoid ICA ( intracranial internal carotid artery ) and M1segment of MCA (middle cerebral artery) narrowing, with thin collateral lenticulostriate vessels, compatible with a diagnosis of Moyamoya syndrome. For a complete evaluation, also considering in the history of headache, we performed a DSC PWI study, that revealed a preserved cerebrovascular reserve capacity. During follow-up the patient developed also central hypothyroidism. Genetic evaluation was conducted through target gene sequencing of genes involved in hypopituitarism ( Gli2, Gli3, HESX1, LHX3, LHX4,OTX2, POU1F1, PROP1, SHH, SIX3, SOX3, TGIF, ZIC2) and arrayCGH, resulted both negative. We are planning a whole exome sequencing.

We described a complex case of Morning Glory Syndrome including pituitary and corpus callosum anomalies, Moyamoya syndrome, with a rare new association with Persisting Embryonal Infundibular Recess, this information may be useful in neuroradiological evaluation for the correct interpretation of an apparently duplicated pituitary stalk on coronal images. Adequate follow-up is required in patients with midline anomalies and MCGA to look for vascular abnormalities and pituitary deficiencies.