Gaze Palsy a Genetic Autosomal Disorder with Scoliosis

Brenda Deborah^*
*Correspondence: Brenda Deborah, Department of Neurology, Iran University of Medical Sciences, Tehran, Iran, Email:

Introduction

An uncommon autosomal recessive congenital condition known as Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) is defined by the absence of conjugate horizontal eye movements and a progressive, severe scoliosis during infancy and adolescence. A condition known as horizontal gaze palsy with progressive scoliosis (HGPPS) damages eyesight and results in an abnormal spine curvature (scoliosis). This disorder prevents affected individuals from moving their eyes side to side. As a result, those who are affected must shift their heads to follow moving objects rather than moving their gaze. Eye motions that go up and down are usually normal [1].

Description

An uncommon autosomal recessive congenital condition known as Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) is defined by the absence of conjugate horizontal eye movements and a progressive, severe scoliosis during infancy and adolescence. A condition known as horizontal gaze palsy with progressive scoliosis (HGPPS) damages eyesight and results in an abnormal spine curvature (scoliosis). This disorder prevents affected individuals from moving their eyes side to side. As a result, those who are affected must shift their heads to follow moving objects rather than moving their gaze. Eye motions that go up and down are usually normal. Scoliosis starts in early childhood or infancy and gets worse over time. Scoliosis is frequently surgically repaired in infancy since it can be uncomfortable and impair movement.

The ROBO3 gene mutations that cause HGPPS. The production of a protein that is necessary for the healthy growth of specific nerve pathways in the brain is guided by the instructions provided by this gene. These include sensory nerve routes and motor nerve pathways, which communicate information about voluntary muscle action and sensory input including touch, pain and temperature. For the brain and the body to successfully communicate, these nerve pathways need to pass from one side of the body to the other in the brainstem, a region that joins the upper sections of the brain with the spinal cord. Both copies of the gene in each cell have mutations because this disorder is inherited in an autosomal recessive way. Eye movement abnormalities that are noticeable from birth and increasing scoliosis that first appears in childhood are two features of the autosomal recessive neurologic condition known as HGPPS. Hypoplasia of the pons and cerebellar peduncles as well as faulty decussation of specific neural networks are characteristics that are linked to a developmental abnormality of the brainstem.

There are few investigations merging diffusion tensor imaging (DTI) tractography and electrophysiological assessment, despite the fact that various conventional brain magnetic resonance imaging (MRI) studies have documented its anatomical features and clinical implications. Here, we describe a case that demonstrates the clinical and radiographic characteristics of HGPPS and further investigate its related pathophysiology from a neuroanatomic perspective. Congenital horizontal gaze paresis patients who simultaneously have Möbius syndrome or Duane retraction syndrome may exhibit comparable clinical manifestations. Depending on the type of gaze palsy, the impairment of gaze in various directions and various forms of movement are symptoms of conjugate gaze palsies. Frequent head movements instead of eye movements can be a sign of gaze palsy. As an illustration, a person with a horizontal saccadic palsy might jerk their head around instead of holding it still and moving their eyes while watching a movie or high-action event, which is typically undetectable.

Although gaze palsies caused by supranuclear illnesses may not always show a difference between the two visual axis and hence may not fit the definition of an incomitancy, they are nonetheless covered in this chapter. These can be caused by lesions in the connective pathways, the pons' gazing centres, or the frontal motor centre. Rarely does diplopia occur and most gaze directions are shared by both eyes. The eyes cannot, in one direction, move reflexively to fixate or, less frequently, cannot follow a moving target (pursuit palsy). The two eyes cannot move over the midline when someone has lateral gaze palsy. Movements above and/or below the horizontal are constrained in vertical gaze palsy [2-4].

A horizontal saccadic palsy is an additional form of gaze palsy. Saccades are brief, irregular eye movements. The paramedian pontine reticular formation (PPRF), located in the pons as well, transmits impulses to the abducens nucleus, which controls saccadic movement. Lesions in the PPRF result in substantially slower or, in the event of very severe lesions, nonexistent saccadic horizontal eye movements. Progressive scoliosis is known to be associated with horizontal gaze palsies. This happens because the lesion disrupts the circuits that control saccadic movements, leaving only slow motions that are regulated by a distinct motor route untouched. Efferent motor impulses may be hampered by midbrain lesions before they reach the pons [5].

Conclusion

Progressive external ophthalmoplegia (horizontal nystagmus, lateral rectus palsies, conjugate gaze paresis and full ocular paralysis), ataxia, peripheral neuropathy and overall disorientation or confusion is the hallmarks of Wernicke's encephalopathy. The brainstem and cerebellum have been linked to Wernicke's encephalopathy's neurological symptoms, whereas the thalamic and hypothalamic structures that surround the third ventricle of the brain have been harmed in the chronic Korsakoff state's amnesic symptoms. One or more thiamine pyrophosphate (TPP)-dependent enzymes, such as the pyruvate dehydrogenase complex, -ketoglutarate dehydrogenase and transketolase, which are involved in thiamine metabolism, may be the cause of an inborn tendency in Wernicke-Korsakoff illness patients. The Wernicke's stage develops suddenly and may go away quickly if substantial doses of thiamine are given.

Acknowledgement

None.

Conflict of Interest

There are no conflicts of interest by author.

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