Pulmonary choristoma in a new-born calf with multiple cranial and nervous malformations

ABSTRACT: Multiple congenital malformations can occur concomitantly in several species since the anomaly in one organ may lead directly to the malformation of another. Additionally, the etiology is not always clarified. Choristoma refers to an ectopic tissue that is histologically normal in an abnormal location. A case of pulmonary and nodal choristoma associated with cranioschisis, hydrocephalus, and syringomyelia in a new-born calf is reported here. Clinically, the calf had a mass in the frontal region of the head associated with local bone deformation. At necropsy, there was cranioschisis in the junction of the frontal bones and a 14 × 10 × 7 cm mass, grossly consistent with well-differentiated pulmonary tissue covered by skin, covering the opening between the frontal bones, and extending into the cranial cavity, leading to local cerebral compression. With the pulmonary choristoma, there was a well-differentiated lymphoid tissue. Additionally, in the central nervous system, there was severe hydrocephalus involving lateral ventricles and multiple areas of syringomyelia in the spinal cord.

The regulatory roles of motile cilia in CSF circulation and hydrocephalus

Background Cerebrospinal fluid (CSF) is an ultra-filtrated colorless brain fluid that circulates within brain spaces like the ventricular cavities, subarachnoid space, and the spine. Its continuous flow serves many primary functions, including nourishment, brain protection, and waste removal. Main body The abnormal accumulation of CSF in brain cavities triggers severe hydrocephalus. Accumulating evidence had indicated that synchronized beats of motile cilia (cilia from multiciliated cells or the ependymal lining in brain ventricles) provide forceful pressure to generate and restrain CSF flow and maintain overall CSF circulation within brain spaces. In humans, the disorders caused by defective primary and/or motile cilia are generally referred to as ciliopathies. The key role of CSF circulation in brain development and its functioning has not been fully elucidated. Conclusions In this review, we briefly discuss the underlying role of motile cilia in CSF circulation and hydrocephalus. We have reviewed cilia and ciliated cells in the brain and the existing evidence for the regulatory role of functional cilia in CSF circulation in the brain. We further discuss the findings obtained for defective cilia and their potential involvement in hydrocephalus. Furthermore, this review will reinforce the idea of motile cilia as master regulators of CSF movements, brain development, and neuronal diseases.

Case Report: Cranial Vault Reduction Cranioplasty for Severe Hydrocephalus

Extreme hydrocephalic macrocephaly is still encountered in developing countries due to delayed treatment, rapidly progressing hydrocephalus and family socioeconomic problems. Reduction cranioplasty was used with several techniques to address the issue. The study aimed to determine the safety and feasibility of barrel-stave technique for reducing the size of extreme hydrocephalic macrocephaly. Three post-diversion patients underwent surgical reconstruction. Children with head circumference more or equal to two standard deviation above mean on given age, no active wound at the area of surgery, presentation of sufficient “potential removable fluid” that allows dura reduction and no active shunt infection were eligible. The surgical procedure includes modified pi, barrel-stave technique, and diversion of the cerebrospinal fluid and subdural collection. Clinical data were recorded. Three patients with age range of 2 month to 2 years old underwent the surgery. Two patients had shunt implanted at least 1 month before the surgery and 1 patient had an ETV procedure 3 months before the reduction. The frontal-occipital circumference before surgery ranged from 50 to 63 cm. The maximum reduction that could be achieved was 15 cm. One patient (2 months old) died within 24 hour due to failure to cope with excessive blood loss. Two patients were followed up for 3 months and 6 months without complications. Reduction cranioplasty using barrel-stave techniques is an option for children with extreme large head that poses a mechanical or cosmetic problem. Risk and pitfalls should be considered and taken care meticulously, especially the age and blood loss.

Life without a brain: Neuroradiological and behavioral evidence of neuroplasticity necessary to sustain brain function in the face of severe hydrocephalus

A two-year old rat, R222, survived a life-time of extreme hydrocephaly affecting the size and organization of its brain. Much of the cortex was severely thinned and replaced by cerebrospinal fluid, yet R222 had normal motor function, could hear, see, smell, and respond to tactile stimulation. The hippocampus was malformed and compressed into the lower hindbrain together with the hypothalamus midbrain and pons, yet R222 showed normal spatial memory as compared to age-matched controls. BOLD MRI was used to study the reorganization of R222’s brain function showing global activation to visual, olfactory and tactile stimulation, particularly in the brainstem/cerebellum. The results are discussed in the context of neuroadaptation in the face of severe hydrocephaly and subsequent tissue loss, with an emphasis on what is the “bare minimum” for survival.

Holoprosencephaly or severe hydrocephalus: T1 sequence tells the story

Intracranial lipoma is a relatively rare benign lesion. Many are incidental findings; however, some others may present with headache, hydrocephalus or other neurological symptoms; thus, correct diagnosis of this condition is important. These lesions are of high signal intensity on T2-weighted MRI and especially those close to cerebrospinal fluid (CSF) spaces, can easily be overlooked in the background of high signal intensity of CSF. Here, we present a case of tectal lipoma, with subsequent severe hydrocephalus and absence of septum pellucidum which was initially misinterpreted as a form of holoprosencephaly, due to inadequate attention to T1-weighted images.

Murine MPDZ-Linked Hydrocephalus is Caused by Hyperpermeability of the Choroid Plexus

ABSTRACTThough congenital hydrocephalus is heritable, it has been linked only to eight genes, one of which is MPDZ. Humans and mice that carry a truncated version of MPDZ incur severe hydrocephalus resulting in acute morbidity and lethality. We show by magnetic resonance imaging that contrast-medium penetrates into the brain ventricles of mice carrying a Mpdz loss-of-function mutation, whereas none is detected in the ventricles of normal mice, implying that the permeability of the choroid plexus epithelial cell monolayer is abnormally high. Comparative proteomic analysis of the cerebrospinal fluid of normal and hydrocephalic mice revealed up to a 53-fold increase in protein concentration, suggesting that transcytosis through the choroid plexus epithelial cells of Mpdz KO mice is substantially higher than in normal mice. These conclusions are supported by ultrastructural evidence, and by immunohistochemistry and cytology data. Our results provide a straight-forward and concise explanation for the pathophysiology of Mpdz-linked hydrocephalus.

Ependymomas

Pediatric posterior fossa tumors are usually ependymoma, pilocytic astrocytoma, or medulloblastoma. Ependymoma appears well-demarcated with heterogeneous enhancement on magnetic resonance imaging (MRI). Full neural axis MRI is indicated to assess for metastatic disease. Management is typically surgical resection of the tumor, with consideration for cerebrospinal fluid diversion if patients present with severe hydrocephalus. Extent of resection of the tumor is the most important factor in predicting recurrence and overall survival, and gross total resection is ideal. Infratentorial ependymomas have 2 molecular subtypes, which has implications for responsiveness to adjuvant therapy and prognosis. Infratentorial ependymomas are biologically different from supratentorial ependymomas. Postoperative radiation improves local control.