Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.
OBJECTIVE
Optic nerve hypoplasia (ONH) is a heterogeneous disease with variable findings of pituitary insufficiency, CNS and neurodevelopmental abnormalities. We characterized the spectrum of endocrinopathy in a cohort of children with ONH and attempted to correlate the presence of different midline CNS findings with the degree of hypopituitarism. The correlation of variable CNS abnormalities with the presence of a seizure disorder and neurodevelopmental delay was also examined.


METHODS
Charts of 56 patients with ONH referred to our endocrine clinics between 1990 and 2000 were reviewed. Neurodevelopmental assessment was based on questionnaires sent to families during the study period.


RESULTS
Forty-six patients (82%) had hypopituitarism, with growth hormone deficiency being the most common endocrinopathy. All patients with diabetes insipidus, hypocortisolism, and hypogonadotropin hypogonadism also had combined pituitary hormone deficiency. Evolving pituitary hormone deficiency was observed in two of 37 patients diagnosed with hypopituitarism in the first 3 years of life. No single midline CNS finding correlated with the presence of hypopituitarism or a seizure disorder. However, hydrocephalus or a seizure disorder was more commonly seen in patients with developmental delay.


CONCLUSIONS
ONH is a heterogeneous disorder with possible multifactorial etiologies. All patients with this diagnosis deserve a comprehensive endocrine and neurodevelopmental evaluation.
Haddad
Nadine G
NG
Department of Pediatrics, Section of Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, IN, USA.
Eugster
Erica A
EA
D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001321:Autistic Disorder / Q000503:physiopathology; D002490:Central Nervous System / Q000002:abnormalities* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000209:etiology; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D006849:Hydrocephalus / Q000503:physiopathology; D007018:Hypopituitarism / Q000209:etiology* / Q000378:metabolism; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D010902:Pituitary Gland / Q000002:abnormalities; D010907:Pituitary Hormones / Q000172:deficiency; D025962:Septo-Optic Dysplasia / Q000175:diagnosis* / Q000378:metabolism; D012688:Septum Pellucidum / Q000002:abnormalities; D011795:Surveys and Questionnaires
D010907:Pituitary Hormones; D013006:Growth Hormone