Intracranial calcifications in childhood: Part 2

Gonçalves, Fabrício Guimarães; Caschera, Luca; Teixeira, Sara Reis; Viaene, Angela N.; Pinelli, Lorenzo; Mankad, Kshitij; Alves, César Augusto Pinheiro Ferreira; Ortiz-González, Xilma R.; Andronikou, Savvas; Vossough, Arastoo

doi:10.1007/s00247-020-04716-y

Cited by 11 publications

(6 citation statements)

References 143 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other reports have described similar calcifications on CT scan 47,48 . Similar bilateral punctate brainstem tegmental calcifications have been reported in one case of Pseudo‐TORCH syndrome‐1 associated with facial palsy due to OCLN mutation 49 . The OCLN gene encodes occludin, a transmembrane protein, an integral component of the tight junction complex.…”

Section: Discussionsupporting

confidence: 66%

“…47,48 Similar bilateral punctate brainstem tegmental calcifications have been reported in one case of Pseudo-TORCH syndrome-1 associated with facial palsy due to OCLN mutation. 49 The OCLN gene encodes occludin, a transmembrane protein, an integral component of the tight junction complex. Midbrain or pontine calcifications have been reported without facial palsy in Aicardi-Goutières syndrome, and in that cases a single dense central pontine calcification can be seen.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Rawhani

Sharma

Maertens

2022

Journal of Neuroimaging

View full text Add to dashboard Cite

Background and Purpose Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost‐effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported. Methods In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator. Results Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities. Conclusion Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.

show abstract

Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Rawhani

Sharma

Maertens

2022

Journal of Neuroimaging

View full text Add to dashboard Cite

show abstract

“…Localized or generalized epilepsy can also occur, mostly as a result of the presence of ischaemic foci [ 5 – 7 ]. Typical brain imaging findings include stroke-like areas, bilateral abnormalities in the deep grey matter or brainstem basal ganglia, or cerebellar atrophy [ 8 ]. Similarly to our patient, the vast majority of patients suffer from recurrent headaches.…”

Section: Discussionmentioning

confidence: 99%

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

Baszyńska-Wilk¹,

Moszczyńska²,

Szarras‐Czapnik³

et al. 2021

pedm

View full text Add to dashboard Cite

MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2-weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treatment was started. After 1 year of recombinant growth hormone therapy the patient was diagnosed with diabetes. At the age of 14 years the LH-RH test showed prepubertal values. Endocrine disorders may be one of the first manifestations of MELAS syndrome. In differential diagnosis of short stature, less common causes, such as mitochondrial diseases, should be taken into consideration.

show abstract

“…In children, the presence of intracranial calcifications is almost always associated with underlying pathology ( Goncalves et al, 2020a , b ), whereas in adults, these are viewed as part of the normal aging process. However, recent studies have shown that intracranial calcifications are strong predictors of adverse clinical outcomes ( Bartstra et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

The Interplay Between Brain Vascular Calcification and Microglia

Maheshwari

Huang

Sridhar

et al. 2022

Front. Aging Neurosci.

View full text Add to dashboard Cite

Vascular calcifications are characterized by the ectopic deposition of calcium and phosphate in the vascular lumen or wall. They are a common finding in computed tomography scans or during autopsy and are often directly related to a pathological condition. While the pathogenesis and functional consequences of vascular calcifications have been intensively studied in some peripheral organs, vascular calcification, and its pathogenesis in the central nervous system is poorly characterized and understood. Here, we review the occurrence of vessel calcifications in the brain in the context of aging and various brain diseases. We discuss the pathomechanism of brain vascular calcification in primary familial brain calcification as an example of brain vessel calcification. A particular focus is the response of microglia to the vessel calcification in the brain and their role in the clearance of calcifications.

show abstract

Intracranial calcifications in childhood: Part 2

Cited by 11 publications

References 143 publications

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

The Interplay Between Brain Vascular Calcification and Microglia

Contact Info

Product

Resources

About