Micropituitarism and cortical dysplasia: an unknown association of two uncommon CNS disorders

Abstract

We describe a case of two known pathologies of the CNS in an unusual association: the concomitant presentation of the micropituitarism and cortical dysplasia. To our knowledge, this association is unreported to date.

Bilateral Perysilvian Polymicrogyria With Cerebellar Dysplasia and Ectopic Neurohypophysis

“…[32][33][34] Our patient had epilepsy with focal seizures related to bilateral perisylvian polymicrogyria, whereas cerebellar cortical dysplasia was not associated with cerebellar signs on neurologic examination. Differently from the other cases reported showing ectopic neurohypophysis, [7][8][9][10][11]29,30,32,34 surprisingly in our case, even the pituitary stalk was not visible on MRI after gadolinium injection, the anterior pituitary hormones were normal, and the patient had no signs of pituitary function deficiency. Probably some residual components of the pituitary stalk maintain a normal anterior pituitary function.…”

“…31 Ectopic neurohypophysis has been rarely reported in association with other cortical malformations. [7][8][9][10] Among twenty patients with ectopic neurohypophysis and growth hormone deficiency, a periventricular heterotopia was documented in 4 cases, and in 1 of them a heterozygous mutation of homeobox gene expressed in ES cells (HESX1) was detected. 7 In addition, ectopic neurohypophysis was reported in 2 cases with unilateral cortical frontal dysplasia 8,9 and in 2 patients affected by bilateral perisylvian polymicrogyria.…”

“…[7][8][9][10] Among twenty patients with ectopic neurohypophysis and growth hormone deficiency, a periventricular heterotopia was documented in 4 cases, and in 1 of them a heterozygous mutation of homeobox gene expressed in ES cells (HESX1) was detected. 7 In addition, ectopic neurohypophysis was reported in 2 cases with unilateral cortical frontal dysplasia 8,9 and in 2 patients affected by bilateral perisylvian polymicrogyria. 10,11 In the case reported by Bergson and colleagues, 9 the child was affected by focal seizures, panhypopituitarism, and unilateral optic atrophy; his MRI showed ectopic posterior pituitary lobe, optic nerve and chiasm hypoplasia, bifrontal cortical dysplasia, and ectopic gray matter.…”

“…5,6 Ectopic neurohypophysis, an anomaly of the pituitary gland that is part of the spectrum of septo-optic dysplasia, has been rarely reported in combination with other cortical malformations. [7][8][9][10][11] We describe, for the first time, a complex cerebral malformation consisting of bilateral perisylvian polymicrogyria, unilateral cerebellar cortical dysplasia, and ectopic neurohypophysis, documented by MRI, in a girl affected by focal epilepsy.…”