optic nerve hypoplasia/jaundice

Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was

Certain features of optic nerve hypoplasia (ONH), its systemic associations and investigation are exclusive to infancy. These include the facility to use cranial ultrasound, difficulties in assessing ocular features and visual function, and neonatal hypoglycaemia and jaundice. Six infants with ONH

This report describes a 4-month-old male with cholestasis, hypoglycemia, and short stature. Symptoms appeared since neonatal age with jaundice, hypoglycemia, neurologic manifestations, and later with short stature. Laboratory investigation was indicative for cholestasis. Further research indicated

The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the

OBJECTIVE MR imaging findings of one or more of the following has been suggested to be a sensitive and specific indicator of hypopituitarism: small anterior pituitary gland, attenuated or absent pituitary stalk, and ectopic posterior pituitary. We hypothesized that these MR findings would be common

The syndrome of septo-optic dysplasia with congenital hypopituitarism consists of optic nerve hypoplasia, midline malformations of the prosencephalon and hypothalamic hypopituitarism. There is great variability of these features and clinical manifestation is age-dependent: Newborns present with