Prenatal detection of Peters plus-like syndrome

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.

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“…The exact incidence still remains unknown with nearly 75 cases reported worldwide as per the current literature. [12]…”

Section: Discussionmentioning

confidence: 99%

Peter plus syndrome: A neurosurgeon’s perspective

et al. 2019

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“…When non-lethal, it is responsible for important comorbidity and impaired quality of life. (ALMEIDA et al, 1991;CANDA et al, 2018) Diagnosis is uncertain and is based primarily on ectoscopy and physical examination of the patient. Family history can also be important.…”

Section: Discussionmentioning

confidence: 99%

Peters Syndrome: A diagnostic approach, clinical evolution and review

Aoyagi,

Silva,

Martins

et al. 2024

Harmony of Knowledge: Exploring Interdisciplinary Synergie

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Introduction: Peters syndrome (or Peters anomaly, or anterior segment mesenchymal dysgenesis) is a rare and congenital genetic condition, described by Arthur G. H. Peters in 1906, which affects the anterior ocular mesenchymal segment, presenting varying degrees of corneal opacity, iridocorneal synechiae, presence of anterior chamber narrowing and Descemet's membrane defect. Case Presentation: A 6-year-old boy, born in Goiânia, state of Goiás, with a term birth and no history of previous health problems, was referred to our service by a general practitioner due to reduced visual acuity (VA) problems in both eyes and strabismus. The mother, who accompanied him, reported that the symptoms of strabismus began approximately a year and a half ago. She also mentioned that she was properly vaccinated during pregnancy against infections that could cause birth defects and denied any complications during pregnancy or childbirth. There is no relevant family history of eye diseases.

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“…The term Peters plus syndrome refers to PA associated with cleft lip/palate, short stature, abnormal external ears and mental retardation [ 2 ]. The systemic anomalies of Peters plus syndrome can be detected by prenatal image study like sonography, [ 3 ], but PA type I and type II, owing to being characterized by localized ocular abnormalities, were never reported with prenatal image diagnosis. In our case, the opacity of fetal eyeballs was found under sonographic examinations at the gestational age of 20 weeks, and the following MRI investigation revealed no other anomalies, thereby rendering Peters plus syndrome an unlikely diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Peters plus syndrome is associated with cleft lip/palate, short stature, abnormal external ears and mental retardation [ 2 ]. The systemic anomalies of Peters plus syndrome can be detected by prenatal image study like sonography, [ 3 ] but PA type I and type II, owing to being characterized by localized ocular abnormalities, were never reported with prenatal image diagnosis. Some PA cases had been studied to reveal genetic defects [ 1 ], but a majority of them lacked a genetic diagnosis [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

A donor twin discordant with Peters anomaly in a twin–twin transfusion syndrome case: a case report

Chang

Chao

Chou

et al. 2020

BMC Pregnancy Childbirth

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Background Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, Case presentation A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially. Then magnetic resonance imaging (MRI) examination was arranged at the gestational age of 23 weeks, and no central nervous system or other anomaly was found. At the 29 weeks of gestation, the opacity of both fetal eyeballs of the donor twin did not clear. The pregnancy resulted in cesarean section at the gestational age of 37 weeks indicated by malpresentation where two male live births were born. Examination under anesthesia was arranged for donor twin after delivery and Peters anomaly was diagnosed based on central corneal opacity with iridocorneal and corneolenticular adhesions. Conclusions The prenatal image of Peters anomaly may present as the opacity of the fetal eyeballs similar to congenital cataract. Some cases of the Peters anomaly had been reported with a genetic abnormality, but since our case presented discordant presentation in monozygotic twin pregnancy where both twins are supposed to share the same genetic make-up, therefore other factors that are epigenetic may be held accountable. Nevertheless, a genetic origin of the anomaly in our case cannot be excluded.

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Prenatal detection of Peters plus-like syndrome

Cited by 8 publications

References 7 publications

Peter plus syndrome: A neurosurgeon’s perspective

Peter plus syndrome: A neurosurgeon’s perspective

Peters Syndrome: A diagnostic approach, clinical evolution and review

A donor twin discordant with Peters anomaly in a twin–twin transfusion syndrome case: a case report

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