Peter plus syndrome: A neurosurgeon’s perspective

Abstract

Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon’s perspective to PPS in this report. A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life. Screening craniospinal magnetic resonance imaging revealed mild ventriculomegaly, cavum septum pellucidum, cavum velum interpositum, vermian hypoplasia, and normal spine. Cytogenetic analysis showed a mutation in the beta-1,3-galactosyltransferase-like gene on chromosome 13. Clinical picture in our patient suggested the diagnosis of PPS. Parents often seek ophthalmological consultation due to visual impairment predominantly, and this syndrome largely remains unknown among neurosurgeons. Nonetheless, babies with PPS may present with neurological symptoms such as seizures, spastic diplegia, tinnitus, or hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure. Therefore, the role of neurosurgeon becomes crucial in managing these cases.

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

“…Our finding of a 75% rate of persistent cavum septum vergae/pellucidum is clearly different from the rate of an enlarged (>6 mm) cavum septum pellucidum in healthy children (4.6%) (26). A persistent cavum septum pellucidum is also seen in MAGT1-CDG (OMIM#301031) and B3GALTL-CDG (OMIM#261540) patients (27,28) and suggests an association between midline defects of the brain, abnormal glycosylation, and low levels of (LDL) cholesterol. Nevertheless, the clinical significance is unclear, as a cavum septum pellucidum is not generally thought to be symptomatic, and no relationship between intelligence, emotional, and behavioral functioning can be found (25,26).…”

Management of Pediatric Cavum Cysts: A Scoping Review and a Single Institution Case Series

“…In the literature, postoperative imaging has routinely been vis-a-vis MRI [3,[5][6][7][9][10][11][12]. One issue that can arise when trying to serially follow the pediatric population is the inability to reliably obtain MRI scans due to hyperactive children and the need for sedation [20].…”

“…A cavum septum pellucidum is normal during embryogenesis, but greater than 85% of the time, the leaflets will fuse together after birth [ 15 ]. Cavum septum pellucidum cysts can still be seen in about 20% of the population and are reported to be linked to psychiatric conditions and traumatic brain injury [ 6 , 13 , 16 , 17 ]. Cavum vergae cysts, which occur posteriorly to cavum septum pellucidum, can also be seen in about 30% of newborns [ 13 ].…”

“…Surgery also involves risk of new neurological deficits, infection, and the need for re-do surgery. Additionally, there have been cases, both in the literature (5.6% of patients) and of our own (15.8% of patients), where conservative treatment of patients presenting with more advanced symptoms such as seizures, hydrocephalus, nausea, and vomiting had spontaneous resolution of their symptoms including reduction in the size of the cyst ( Table 2 ) [ 2 , 6 ]. Additionally, complex comorbidities can complicate clinical decision-making [ 6 ].…”

“…Additionally, there have been cases, both in the literature (5.6% of patients) and of our own (15.8% of patients), where conservative treatment of patients presenting with more advanced symptoms such as seizures, hydrocephalus, nausea, and vomiting had spontaneous resolution of their symptoms including reduction in the size of the cyst ( Table 2 ) [ 2 , 6 ]. Additionally, complex comorbidities can complicate clinical decision-making [ 6 ]. This complexity is reflected in a case published by Khatri et al [ 6 ] that demonstrated successful conservative management of a patient with an anterior midline cyst and comorbid Peter plus syndrome, a syndrome that can also present with increased ICP.…”