Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

Hengst, Meike; Tücke, Jens; Zerres, Klaus; Blaum, Marcus; Häusler, Martin

doi:10.1002/ajmg.a.33577

Cited by 20 publications

(15 citation statements)

References 21 publications

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“…Mega corpus callosum (CC) (Hengst, Tücke, Zerres, Blaum, & Häusler, ; Pierson, Zimmerman, Tennekoon, & Bönnemann, ) was present in 75% (9/12), polymicrogyria 33% (4/12) (Figure a, arrows), periventricular WM lesions with T2 hyperintensities in 83% (10/12), and periventricular heterotopia in 17% (2/12) of PHTS participants (Table , Table S1). The NC group showed no structural brain abnormalities (Figure e,f).…”

Section: Resultsmentioning

confidence: 99%

Brain morphological analysis in PTEN hamartoma tumor syndrome

Shiohama

Levman

Vasung

et al. 2020

American J of Med Genetics Pt A

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PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. PHTS is of high interest, because of its high rate of neurological comorbidities including macrocephaly, autism spectrum disorder, and intellectual dysfunction. Since detailed brain morphology and connectivity of PHTS remain unclear, we quantitatively evaluated brain magnetic resonance imaging (MRI) in PHTS. Sixteen structural T1-weighted and 9 diffusion-weighted MR images from 12 PHTS patients and neurotypical controls were used for structural and high-angular resolution diffusion MRI (HARDI) tractography analyses. Megacorpus callosum was observed in 75%, polymicrogyria in 33%, periventricular white matter lesions in 83%, and heterotopia in 17% of the PHTS participants. While gyrification index and hemispheric cortical thickness showed no significant differences between the two groups, significantly increased global and regional brain volumes, and regionally thicker cortices in PHTS participants were observed. HARDI tractography showed increased volume and length of callosal pathways, increased volume of the arcuate fasciculi (AF), and increased length of the bilateral inferior longitudinal fasciculi (ILF), bilateral inferior fronto-occipital fasciculi (IFOF), and bilateral uncinate fasciculus. A decrease in fractional anisotropy and an increased in apparent diffusion coefficient values of the AF, left ILF, and left IFOF in PHTS. K E Y W O R D SHARDI, mega corpus callosum, megalencephaly, PTEN hamartoma tumor syndrome, structural brain MRI

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Section: Resultsmentioning

confidence: 99%

Brain morphological analysis in PTEN hamartoma tumor syndrome

Shiohama

Levman

Vasung

et al. 2020

American J of Med Genetics Pt A

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“…This syndrome was first reported in 1998 in three patients, with six more reported thereafter [Gohlich‐Ratmann et al, 1998; Dagli et al, 2008; Pierson et al, 2008; Bindu et al, 2010; Hengst et al, 2010]. Classic features include a distinctly thick corpus callosum, severe PMG with incomplete opercularization of the sylvian fissure, and severe developmental handicap with complete lack of motor development.…”

Section: Discussionmentioning

confidence: 99%

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Mirzaa

Conway

Gripp³

et al. 2012

American J of Med Genetics Pt A

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186

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The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephalycapillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyriapolydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive How to Cite this Article:

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“…Conditions associated with megalencephaly These include megalencephaly, mega corpus callosum and complete lack of motor development [33][34][35]; megalencephaly, mega corpus callosum polymicrogyria (Fig. 25) Thick corpus callosum associated with a normal head size Thick corpus callosum associated with a normal head size is reported with neurofibromatosis type I and syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum and mental retardation; and it can be incidental, e.g., upper range of normal [38].…”

Section: Primary Conditions Associated With Thickening Of the Corpus mentioning

confidence: 99%

Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image

et al. 2014

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Thickening of the corpus callosum is an important feature of development, whereas thinning of the corpus callosum can be the result of a number of diseases that affect development or cause destruction of the corpus callosum. Corpus callosum thickness reflects the volume of the hemispheres and responds to changes through direct effects or through Wallerian degeneration. It is therefore not only important to evaluate the morphology of the corpus callosum for congenital anomalies but also to evaluate the thickness of specific components or the whole corpus callosum in association with other findings. The goal of this pictorial review is raise awareness that the thickness of the corpus callosum can be a useful feature of pathology in pediatric central nervous system disease and must be considered in the context of the stage of development of a child. Thinning of the corpus callosum can be primary or secondary, and generalized or focal. Primary thinning is caused by abnormal or failed myelination related to the hypomyelinating leukoencephalopathies, metabolic disorders affecting white matter, and microcephaly. Secondary thinning of the corpus callosum can be caused by diffuse injury such as hypoxic-ischemic encephalopathy, human immunodeficiency virus (HIV) encephalopathy, hydrocephalus, dysmyelinating conditions and demyelinating conditions. Focal disturbance of formation or focal injury also causes localized thinning, e.g., callosal dysgenesis, metabolic disorders with localized effects, hypoglycemia, white matter injury of prematurity, HIV-related atrophy, infarction and vasculitis, trauma and toxins. The corpus callosum might be too thick because of a primary disorder in which the corpus callosum finding is essential to diagnosis; abnormal thickening can also be secondary to inflammation, infection and trauma.

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Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

Cited by 20 publications

References 21 publications

Brain morphological analysis in PTEN hamartoma tumor syndrome

Brain morphological analysis in PTEN hamartoma tumor syndrome

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image

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