The neuropathologic abnormalities associated with Prader-Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11-q13 region. Several of the imprinted genes in the 15q11-q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three-dimensional (3-D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3-D MRI scans of 21 normal weight sibling controls and 16 individuals with early-onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal-occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11-q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated.

Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome.

Aim To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). Method A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18 years were considered. Study quality was evaluated using the Joanna Briggs Institute Meta-Analysis of Statistics Assessment and Review Instrument (MAStARI) critical appraisal checklist items. Results Eighteen cross sectional, and 11 case-controlled studies adhered to inclusion criteria. Reported rates of abnormalities ranged from 0% to 98%. When all subjects with developmental delay from all papers were considered (n = 2299) the total percentage found to have abnormalities was 38%. Abnormalities led to an etiological diagnosis for delay in 7.9% of cases. Interpretation Definitions of abnormalities varied widely between studies, and drastically different rates of abnormalities are reported. Currently available evidence is not of sufficient quality to make firm recommendations on the use of neuroimaging in ID or GDD but MRI should be considered for children that do not have a diagnosis after thorough clinical evaluation.

Systematic review of MRI findings in children with developmental delay or cognitive impairment

Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients. Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy. The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome. The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.

http://www.wjpch.com/UploadFile/14-108.pdf

Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects.

Background/Aim. Changes in the morphology and the size of the corpus callosum, are related to various pathological conditions. An analysis of these changes requires data about sexual dimorphism of the corpus callosum, which we tried to obtain in our study. We also investigated the method of digital morphometry and compared the obtained results with the results of other authors obtained by magnetic resonance imaging or by planimetry. Methods. A morphological research included 34 human brains (cadavers of both sexes − 19 female and 15 male aged 26−72 years). By digital morphometry using an AutoCAD software we performed measurements in the corpus callosum: the length (L), width in the half of its length (WW’), length of its cortical margin (LCM), area and perimeter of the anterior and posterior callosal segments, as well as the area and perimeter of the corpus callosum section area. The investigated parameters were analyzed and compared between the females and males. Results. There was not a statistically significant difference between the males and females in the investigated parameters of the corpus callosum (t test; p > 0.05), including the mean values of the two most important parameters, the surface of its midsagittal section area (males 654.11 mm2; females 677.40 mm2) and of its perimeter (males 19.61 cm; females 19.72 cm). The results obtained by digital morphometry were in the range of the results of other authors obtained by magnetic resonance and by planimetry. However, the value of Pearson coefficient of linear correlation between the section surface area and perimeter of the corpus callosum in the males was highly significant (rxy = 0.6943, p < 0.01), while in the females this value was statistically insignificant. Conclusion. Digital morphometry is accurate method in encephalometric investigations. Our results suggest that the problem of sexual dimorphism of the corpus callosum is very complex, because the identical variables (section surface area or its perimeter) do not exhibit the same behavior in males and in females, implicating that these variables even cannot be simply compared between the sexes.

https://scindeks-clanci.ceon.rs/data/pdf/0042-8450/2006/0042-84500611933s.pdf

[Sexual dimorphism of the human corpus callosum--digital morphometric study].

RADIOLOGIE ET IMAGERIE MEDICALE : Musculosquelettique - Neurologique - Maxillofaciale - 31-622-A-10

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Imagerie par résonance magnétique du retard mental non spécifique

Iconography : IMAGERIE PAR RÉSONANCE MAGNÉTIQUE DU RETARD MENTAL NON SPÉCIFIQUE