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Obesity is common in children with congenital midline defects of the brain, due to various endocrine reasons: hypothyroidism, growth hormone deficiency and inappropriate cortisol replacement. However, obesity occurs more often in the absence of an endocrinopathy. We reviewed 31 patients (10 females, 21 males) with midline intracranial defects (holoprosencephaly, absence of septum pellucidum, absence of corpus callosum, optic nerve hypoplasia) and correlated the morphology of the hypothalamus with body mass index (BMI), as BMI SDS. Endocrinopathies were present in 16 out of the 31 patients. We conclude that there was a trend of increasing mean BMI SDS with increasing hypothalamic abnormality, although this was not statistically significant.

Body Mass Index and Hypothalamic Morphology on MRI in Children with Congenital Midline Cerebral Abnormalities