# Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia

**Authors:** Jake Haver, Joseph J Junewick

PMC · DOI: 10.7759/cureus.58727 · Cureus · 2024-04-22

## TL;DR

A 3-year-old boy with brain and pituitary abnormalities provides new insights into how the corpus callosum develops during embryogenesis.

## Contribution

The case supports a new theory that corpus callosum development is not strictly linear from front to back.

## Key findings

- MRI showed segmental agenesis of the corpus callosum with preserved genu and splenium.
- The case challenges traditional views of linear callosal development.
- Pituitary hypoplasia was identified through stimulation testing and MRI.

## Abstract

We report a 3-year-old male with findings of segmental agenesis of the corpus callosum, pituitary hypoplasia, and Chiari I malformation. The patient was born at 33 weeks and spent five weeks in the NICU for hypoglycemia, hypotension, and dyspnea. In infancy, the patient passed an adrenocorticotropic hormone stimulation test, while cortisol, growth hormone, and insulin-like growth factor levels were within reference range. Following height and weight percentile regression the patient underwent arginine and clonidine stimulation testing at 3 years of age, prompting pituitary evaluation via MRI. The results provided exemplary neuroimaging of segmental callosal agenesis, in which the genu and splenium form despite the absence of the callosal body. This finding adds support to a newer theory of embryological callosal development where progression does not occur linearly in the rosto-caudal direction.

## Linked entities

- **Diseases:** hypoglycemia (MONDO:0004946), hypotension (MONDO:0005468)

## Full-text entities

- **Genes:** GH1 (growth hormone 1) [NCBI Gene 2688] {aka GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B}
- **Diseases:** hypoglycemia (MESH:D007003), Agenesis of the Corpus Callosum (MESH:D061085), Chiari I malformation (MESH:D001139), hypotension (MESH:D007022), callosal agenesis (MESH:D058540), dyspnea (MESH:D004417), Pituitary Hypoplasia (MESH:D010900)
- **Chemicals:** clonidine (MESH:D003000), arginine (MESH:D001120), cortisol (MESH:D006854)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11110639/full.md

## References

7 references — full list in the complete paper: https://tomesphere.com/paper/PMC11110639/full.md

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Source: https://tomesphere.com/paper/PMC11110639