|Year : 2019 | Volume
| Issue : 3 | Page : 148-153
Peter plus syndrome: A neurosurgeon’s perspective
Deepak Khatri, Jaskaran S Gosal, Kuntal K Das, Kamlesh S Bhaisora
Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India
|Date of Submission||27-Feb-2019|
|Date of Decision||31-May-2019|
|Date of Acceptance||27-Jun-2019|
|Date of Web Publication||27-Sep-2019|
Dr. Kuntal K Das
Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Raibareily Road, Lucknow 226014, Uttar Pradesh.
Source of Support: None, Conflict of Interest: None
| 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.
Keywords: CSF diversion, neurosurgery, Peter plus syndrome
|How to cite this article:|
Khatri D, Gosal JS, Das KK, Bhaisora KS. Peter plus syndrome: A neurosurgeon’s perspective. J Pediatr Neurosci 2019;14:148-53
| Introduction|| |
Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder, which is characterized by a mutation in the beta-1,3-galactosyltransferase-like gene. This genetic defect leads to impaired glycosylation of several structural and functional proteins throughout the body. Clinical presentation of PPS is highly variable and this syndrome affects multiple organ systems including the central nervous system (CNS). The aim of this report is to describe this rare syndrome from a neurosurgeon’s perspective as this syndrome may present with features of raised intracranial pressure requiring surgical intervention, apart from other neurological abnormalities.
| Case Report|| |
A 2-year-old boy, the first child of a consanguineous marriage, presented with congenital dysmorphic facies, bilateral central corneal opacities, and history of surgery for anal atresia on the second day of life. Examination revealed delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, tongue-tie, small cup-shaped ears, smooth long philtrum, and left-sided undescended testis Figure 1]. Head circumference was normal (49cm) for age with closed anterior fontanelle. Ocular examination revealed bilateral leukoma with synechiae in the anterior chamber.
|Figure 1: Clinical image of our patient (labeled) showing bilateral central corneal opacities, dysmorphic facies including small cup-shaped ears, smooth long philtrum, and limb anomalies|
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Screening craniospinal magnetic resonance imaging (MRI) revealed mild ventriculomegaly, cavum septum pellucidum, cavum velum interpositum, vermian hypoplasia, and normal spine [Figure 2]. Cytogenetic microarray performed was positive for mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13:31821992, B3GlCt gene).
|Figure 2: Craniospinal MRI of our patient showing mild enlargement of lateral ventricles with cavum septum pellucidum (orange arrow) in T2-weighted image (WI) axial view (A) and coronal view (B). Hypoplasia with the vermis with normal cerebellar hemispheres was also noted (C–D). T2-WI midsagittal (E) and coronal view at level of body of lateral ventricles (F) showing cavum velum interpositum (red arrow) and a large interthalamic adhesion. Spinal screening in sagittal view (G) showing normal spine|
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Thus, clinical picture in our patient suggested the diagnosis of PPS. As the child was not having any features of raised intracranial pressure and the MRI head also showed mild-to-moderate ventriculomegaly with no periventricular lucency, no surgical intervention was performed and the child was advised regular follow-up. Parents of the child were counseled about the future possibility of cerebrospinal fluid diversion if the need arises. At 6-month follow-up, child had persistent delayed developmental milestones but there were no clinical features of raised intracranial pressure. There was no abnormal increase in the head circumference. Child was advised regular follow-up in the neurosurgery outpatient department.
| Discussion|| |
This rare hereditary (autosomal recessive) disorder, also called Krause–van Schooneveld–Kivlin syndrome, is marked by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which impairs glycosylation of several structural and functional proteins in the body. The exact incidence still remains unknown with nearly 75 cases reported worldwide as per the current literature.,
Clinical symptomatology of PPS is highly variable at presentation as well as in severity. Affected mothers have an increased risk for recurrent miscarriage and stillbirth.,, Associated findings that may be identified on a prenatal high-resolution sonography include congenital heart defects, genitourinary abnormalities, and structural brain malformations.,,, Even though, these findings are nonspecific, but are highly suggestive of the diagnosis, especially with a positive family history. Therefore, it should alert the obstetrician and help to counsel the parents accordingly. Nonetheless, a DNA analysis for the mutation should be carried out to confirm the diagnosis of PPS. Various structural malformations of CNS associated with PPS have been summarized in [Table 1].
|Table 1: A list of various structural malformations of CNS associated with Peter plus syndrome|
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Even though few patients with PPS may enjoy a normal lifespan, it is frequently marred by poor quality of life due to various morbidities—ocular, cardiac, or gastrointestinal. In addition, some babies may not even survive beyond their first birthday due to heart failure or other comorbidities.
Parents often seek ophthalmological consultation due to visual impairment and this entity largely remains unknown among neurosurgeons. A review of previously reported case of PPS with various neurological presentations shows that most of these children were managed via a conservative approach and follow-up [Table 2]. Nonetheless, these babies may land up in neurosurgical clinics with symptoms such as seizures, spastic diplegia, tinnitus, hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure (hydrocephalus) requiring urgent neurosurgical intervention. Motoyama et al. have managed their case with surgical repair of the lumbar myelomeningocele and ventriculoperitoneal shunt for the hydrocephalus. A cochlear implant may be considered for hearing loss.
|Table 2: A summary of Peters plus syndrome cases who presented with CNS anomalies|
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Individualized treatment depending on the severity of symptoms is recommended with utmost care to avoid corticosteroids, which may potentiate risk of glaucoma in these patients. Keeping the diagnosis and clinical presentation of our case in mind, the child was advised regular follow-up and no new-onset neurological deficits have developed during the follow-up period.
| Conclusion|| |
Children with PPS may present with neurological symptoms such as seizures, spastic diplegia, tinnitus, or hearing loss apart from life-threatening neurosurgical emergencies such as hydrocephalus, which may require surgery. Therefore, the neurosurgeon should have the requisite knowledge of such rare syndromes as sometimes, the role of neurosurgeon becomes crucial in managing these cases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]
[Table 1], [Table 2]