Neuroimaging and calvarial findings in achondroplasia

Sarıoğlu, Fatma Ceren; Sarıoğlu, Orkun; Güleryüz, Handan

doi:10.1007/s00247-020-04841-8

Cited by 8 publications

(10 citation statements)

References 29 publications

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“…In our semi-quantitative analysis, 3 out of 12 asymptomatic children showed cervical myelopathy without a relevant stenosis (grade 4 A on FMS); therefore, it is conceivable that not only direct compression but also additional causes might concur in the development of myelopathy such as atlanto-axial instability or ischemic factors (41,42). Stenosis of the JF, causing a partial obstruction of venous flow, has been indicated as one of main contributing factors of ventriculomegaly (43) while the role of obstruction of CSF flow by FM stenosis has been considered a marginal factor (44)(45)(46). In all children with achondroplasia, our quantitative analysis confirmed the JF narrowing and the increase of supratentorial ventricular and extraventricular CSF space volumes but no relationship between JF narrowing, FM area, and increase in supratentorial ventricle volume was found in both groups.…”

Section: Discussionmentioning

confidence: 81%

“…Stenosis of the JF, causing a partial obstruction of venous flow, has been indicated as one of main contributing factors of ventriculomegaly (43) while the role of obstruction of CSF flow by FM stenosis has been considered a marginal factor (44–46). In all children with achondroplasia, our quantitative analysis confirmed the JF narrowing and the increase of supratentorial ventricular and extra-ventricular CSF space volumes but no relationship between JF narrowing, FM area, and increase in supratentorial ventricle volume was found in both groups.…”

Section: Discussionmentioning

confidence: 99%

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Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study

et al. 2021

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Background Most infants and children with achondroplasia show delayed motor skill development; however, some patients may have clinical consequences related to cranio-cervical junction stenosis and compression. Purpose To assess, using brain magnetic resonance imaging (MRI), quantitative variables linked to neuromotor impairment in achondroplasic children. Material and Methods In total, 24 achondroplasic children underwent pediatric neurological assessment and were grouped in two cohorts according to relevant motor skill impairment. Achondroplasic children with (n=12) and without (n=12) motor symptoms were identified, and brain MRI scans were quantitatively evaluated. 3D fast spoiled gradient echo T1-weighted images were used to assess: supratentorial intracranial volumes (SICV); supratentorial intracranial brain volume (SICBV); SICV/SICBV ratio; posterior cranial fossa volume (PCFV); posterior cranial fossa brain volume (PCBFV); PCFV/PCFBV ratio; ventricular and extra-ventricular cerebrospinal fluid (CSF) volumes; foramen magnum (FM) area; and jugular foramina (JF) areas. Results In both groups, SICV/SICBV ratio, supratentorial ventricular and extra-ventricular space volumes were increased while SICBV was increased only in the asymptomatic group ( P < 0.05). PCFV/PCFBV ratio, IV ventricle, infratentorial extra-ventricular spaces volumes were reduced ( P < 0.05) in the symptomatic group while PCFBV was increased only in the asymptomatic group ( P < 0.05). Foramen magnum (FM) area was more reduced in the symptomatic group than the asymptomatic group ( P < 0.05) but no correlation between FM area and ventriculomegaly was found ( P > 0.05). Conclusion Evaluation of the FM area together with infratentorial ventricular and extra-ventricular space volume reduction may be helpful in differentiating patients at risk of developing motor skill impairment. Further investigation is needed to better understand the temporal profile between imaging and motor function in order to propose possible personalized surgical treatment.

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study

et al. 2021

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“…Achondroplasia is the most common hereditary skeletal dysplasia and is characterized by disproportionately short stature with rhizomelic short extremities [1]. The skull features include a narrowed foramen magnum, short skull base, and clivus [2].…”

Section: Clinical Imagementioning

confidence: 99%

“…Foramen magnum stenosis is a characteristic funding, secondary to an abnormal placement and premature fusion of the posterior synchondroses [1]. The second factor responsible for stenosis is a defect in endochondral ossification in the basiocciput that may result in an extension of the squamous occipital bone [2].…”

Section: Clinical Imagementioning

confidence: 99%

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Foramen Magnum Stenosis in Achondroplasia

Choayb¹,

Adil²,

S³

2021

austinjradiol

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Achondroplasia is the most common hereditary skeletal dysplasia and is characterized by disproportionately short stature with rhizomelic short extremities [1]. The skull features include a narrowed foramen magnum, short skull base, and clivus [2]. Foramen magnum stenosis is a characteristic funding, secondary to an abnormal placement and premature fusion of the posterior synchondroses [1]. The second factor responsible for stenosis is a defect in endochondral ossification in the basiocciput that may result in an extension of the squamous occipital bone [2]. It can cause hydrocephalus and prominent emissary and meningeal veins (Figure 1). Figure 1: Sagittal T1WI revealing a narrowed stenosis of the foramen magnum and compression of the cervicomedullary junction. The most severe complication is the compression of the cervicomedullary junction, associated with severe morbidity and sudden death in younger children [1].

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Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Shinar,

Chitayat,

Shannon

et al. 2023

Prenatal Diagnosis

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Macrocephaly means a large head and is defined as a head circumference (HC) above the 98th percentile or greater than +2SD above the mean for gestational age. Macrocephaly can be primary and due to increased brain tissue (megalocephaly), which in most cases is familial and benign or secondary. The latter may be due to various causes, including but not limited to communicating or non‐communicating hydrocephalus, cerebral edema, focal and pericerebral increased fluid collections, thickened calvarium and brain tumors. Megalocephaly can be syndromic or non‐syndromic. In the former, gyral and structural CNS anomalies are common. It is important to exercise caution when considering a diagnosis of megalocephaly due to limitations in the accuracy of HC measurement, lack of nomograms for specific populations, inconsistencies between prenatal and postnatal HC growth curves and progression over time. The degree of macrocephaly is important, with mild macrocephaly ≤2.5SD carrying a good prognosis, especially when one of the parents has macrocephaly and normal development. Cases in which the patient history and/or physical exam are positive or when parental HC are normal are more worrisome and warrant a neurosonogram, fetal MRI and genetic testing to better delineate the underlying etiology and provide appropriate counseling.

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Neuroimaging and calvarial findings in achondroplasia

Cited by 8 publications

References 29 publications

Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study

Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study

Foramen Magnum Stenosis in Achondroplasia

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

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