A small pons as a characteristic finding in Down syndrome: A quantitative MRI study

Fujii, Yuta; Aida, Noriko; Niwa, Tetsu; Enokizono, Mikako; Nozawa, Kumiko; Inoue, Tomio

doi:10.1016/j.braindev.2016.10.016

Cited by 20 publications

(20 citation statements)

References 31 publications

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“…Eight of the patients who had an MRI available for review had pontine hypoplasia; this has previously been described in multiple cohorts of patients with trisomy 21. 19,20 Though the series of patients with trisomy 21, pontine hypoplasia, and infantile spasms is small in our cohort, interestingly, only those with additional structural abnormalities did not respond to hormonal therapies. Children with trisomy 21 frequently have an abbreviated infantile spasms workup because their etiology is felt to be their congenital genetic abnormality.…”

Section: Neuroimagingmentioning

confidence: 66%

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

Armstrong

Said

2019

J Child Neurol

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Objective: We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. Methods: Patients with infantile spasms were identified via the neurophysiology database. Charts were reviewed with attention to infantile spasms diagnosis, presence of trisomy 21, age of reported clinical onset, treatment lag, treatments used, response to treatment, imaging findings, electroencephalography (EEG) data, and developmental outcomes. Results: Of the 310 patients with infantile spasms, 24 also had trisomy 21. Three patients did not meet inclusion criteria. Ten of the 21 patients received nonstandard therapies first line; 2 of the 10 (20%) achieved spasm control, and 4 of the 8 who failed therapy (50%) progressed to Lennox-Gastaut syndrome. Eleven of the 21 patients received standard therapies as first-line treatments (10 with prednisolone according to the protocol in the United Kingdom Infantile Spasms Study [UKISS] and 1 with adrenocorticotrophic hormone [ACTH]). Nine of the 10 patients (90%) who received prednisolone achieved spasm resolution, 6 (60%) of these without relapse. The final patient (10%) failed prednisolone as well as ACTH. One patient received ACTH first line with success. Conclusion: This is the only series to follow children with trisomy 21 and infantile spasms in which a significant proportion received UKISS-protocol prednisolone. It adds to current knowledge about safety, tolerability, and effectiveness of prednisolone in this group.

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Section: Neuroimagingmentioning

confidence: 66%

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

Armstrong

Said

2019

J Child Neurol

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“…These two afferent pathways to the cerebellum (via the middle and inferior cerebellar peduncles, respectively) along with their associated gray matter structures (including the medial prefrontal and cingulate cortex as well as the cerebellum, Arnold's bundle, pons, and inferior olivary nuclei) were massively reduced in volume in DS. Although previous investigations have reported hypoplasia in the frontal lobes 7,19 , pons 56,57 , and cerebellum 7,10,17,21,22 , no studies have documented the degree to which these gray matter structures and their anatomical connections are impacted. Moreover, this is the first investigation to document severe hypoplasia of the inferior olivary nuclei in DS.…”

Section: Discussionmentioning

confidence: 96%

Hypoplasia of cerebellar afferent networks in Down syndrome revealed by DTI-driven tensor based morphometry

Lee

Nayak

İrfanoğlu

et al. 2020

Sci Rep

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Quantitative magnetic resonance imaging (MRI) investigations of brain anatomy in children and young adults with Down syndrome (DS) are limited, with no diffusion tensor imaging (DTI) studies covering that age range. We used DTI-driven tensor based morphometry (DTBM), a novel technique that extracts morphometric information from diffusion data, to investigate brain anatomy in 15 participants with DS and 15 age-and sex-matched typically developing (TD) controls, ages 6-24 years (mean age ~17 years). DTBM revealed marked hypoplasia of cerebellar afferent systems in DS, including fronto-pontine (middle cerebellar peduncle) and olivo-cerebellar (inferior cerebellar peduncle) connections. Prominent gray matter hypoplasia was observed in medial frontal regions, the inferior olives, and the cerebellum. Very few abnormalities were detected by classical diffusion MRI metrics, such as fractional anisotropy and mean diffusivity. Our results highlight the potential importance of cerebro-cerebellar networks in the clinical manifestations of DS and suggest a role for DTBM in the investigation of other brain disorders involving white matter hypoplasia or atrophy.

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“…On the other hand, fetuses who had pons measurements within the normal range for gestational age also had cerebellar vermis measurements within the normal range. Fujii et al 7 suggested that cerebellar abnormalities could be related to hypoplasia of the brain stem in the Dandy‐Walker malformation and congenital muscular dystrophy in severe cases. Cerebellar and pons development may be related to each other, and the same genetic influence may affect the growth of both in fetuses with DS.…”

Section: Discussionmentioning

confidence: 99%

“…There is a wide range of neurologic manifestations related to structural abnormalities of brain development in DS 18 . Hypoplasia of the cerebellum and pons is thought to be associated with some neurologic consequences, such as hypotonia, motor coordination difficulties, articulatory speech disturbances, nystagmus, sleep apnea episodes, and standing and walking disabilities associated with DS 7,19 . Prenatal diagnosis of pathologic changes in the brain stem and cerebellum of fetuses with DS could provide appropriate antenatal counseling and, in those who decide to deliver, postnatal follow‐up with regard to neurologic consequences of DS.…”

Section: Discussionmentioning

confidence: 99%

“…It coordinates motor control signals sent from the brain to the body and also controls life‐supporting autonomic functions of the peripheral nervous system 6 . A recent magnetic resonance imaging study by Fujii et al 7 showed smaller pons measurements in children with DS compared to control participants. Prenatal ultrasound depiction of the fetal pons is possible, and nomograms of the fetal pons dimensions have been reported 8,9 .…”

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confidence: 99%

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Pons Anteroposterior and Cerebellar Vermis Craniocaudal Diameters in Fetuses With Down Syndrome

Erenel

Madazli

2020

J of Ultrasound Medicine

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Objectives-To investigate the pons anteroposterior diameter (APD) and cerebellar vermis craniocaudal diameter (CCD) of fetuses with Down syndrome (DS). Methods-This was a prospective observational study including 200 low-risk pregnancies and 18 pregnancies with fetuses who had DS. A midsagittal view was obtained to measure the pons APD and cerebellar vermis CCD. Gestational age-related 5th, mean, and 95th percentiles for the pons APD and cerebellar vermis CCD between 18 and 32 weeks' gestation were created from the low-risk population. Each measurement of a fetus with DS was plotted on growth charts, and those below the 5th percentile for gestational age were considered small. Results-The pons APD and cerebellar vermis CCD measurements were below the 5th percentile for gestational age in 7 of the 18 (38.8%) fetuses with DS. Fetuses who had pons APDs below the 5th percentile for gestational age also had cerebellar vermis CCDs below the 5th percentile. Fetuses who had pons and cerebellar vermis measurements below the 5th percentile for gestational age on the initial examination continued to have small measurements during follow-up. Conclusions-Fetal pons and cerebellar vermis abnormalities could be observed prenatally in fetuses with DS, which could help in the antenatal counseling and postnatal follow-up of such pregnancies.

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A small pons as a characteristic finding in Down syndrome: A quantitative MRI study

Cited by 20 publications

References 31 publications

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

Hypoplasia of cerebellar afferent networks in Down syndrome revealed by DTI-driven tensor based morphometry

Pons Anteroposterior and Cerebellar Vermis Craniocaudal Diameters in Fetuses With Down Syndrome

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