Widespread haemorrhages in infants post-shunting (WHIPS): clinical features, risk factors and neuroimaging characteristics of a rare and under-recognised phenomenon.

PURPOSE: Infants undergoing CSF shunting procedures face a rare complication which we propose to rename "Widespread Haemorrhages in Infants Post-Shunting" (WHIPS) to better capture this unique phenomenon specific to infants undergoing CSF diversion. Our objective is to analyse the risk factors for WHIPS development and provide a detailed neuroradiological description of these haemorrhages. MATERIALS AND METHODS: A radiology information system (RIS) was searched using the search terms "shunt" and/or "catheter" and/or "drain" and/or "ventriculoperitoneal" and/or "VP" between September 2008 to January 2021 for patients < 12 months of age. Clinical data was compiled for each patient meeting the inclusion criteria. Included cases were reviewed by three radiologists for the presence of WHIPS with calculation of the bifrontal ratio and documenting haemorrhage number, morphology, location and lobar distribution. RESULTS: 51 patients met inclusion criteria, 8 WHIPS patients and 43 controls. There was a statistically significant correlation between a larger post-op head circumference and WHIPS (p = 0.04). WHIPS was associated with post-haemorrhagic hydrocephalus and post-infectious hydrocephalus (p = 0.009). WHIPS were identified in the cortico-subcortical regions, periventricular white matter, and deep white matter. Haemorrhages were either punctate, ovoid or confluent. Haemorrhages ranged from single to innumerable. CONCLUSIONS: WHIPS represent a rare and under-recognised complication of CSF shunting unique to the infantile population. We postulate deep and superficial medullary venous haemorrhage as an underlying mechanism related to disordered intracranial hydrodynamics which are exacerbated in the infantile population due to underdeveloped arachnoid granulations and a compliant skull.

(What's the story) morning glory? MRI findings in morning glory disc anomaly.

PURPOSE: Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. METHODS: A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. RESULTS: 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. CONCLUSION: This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities - skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250).

Point-of-Care Ultrasonography for the Assessment of Dehydration in Children: A Systematic Review.

OBJECTIVES: Accurate estimation of the degree of dehydration remains a diagnostic challenge. The primary objective was to systematically review the literature on the role of ultrasound in assessment of the degree of dehydration in children. METHODS: Data sources included Ovid MEDLINE, Web of Science Core Collection, Current Index to Nursing and Allied Health Literature, Cochrane Library, ClinicalTrials.gov , and Trip Pro Database. Two independent reviewers used screening protocol to include articles on assessment of dehydration in children with the use of point-of-care ultrasonography (POCUS). The level of evidence was assessed in accordance with the "The Oxford 2011 Levels of Evidence." The Quality Assessment of Diagnostic Accuracy Studies-2 tool was used to evaluate risk of bias. RESULTS: We identified 108 studies, and 8 studies met our inclusion criteria. All studies were prospective cohort studies (level of evidence, 3-4). The authors of 5 studies used difference between ill weight and weight after rehydration as the reference standard for dehydration, and the authors of 3 studies used clinical dehydration scale. Two studies from the United States showed acceptable areas under the curve for inferior vena cava to aorta (IVC/Ao) diameter ratio at 0.72 and 0.73 for prediction of significant dehydration (>5% weight loss). The IVC/Ao ratio with cut-off at 0.8 had sensitivity of 67% and 86% and specificity of 71% and 56% for prediction of significant dehydration. Studies from the resource-limited settings were more heterogeneous. One study with acceptable risk of biases reported poor sensitivity (67%) and specificity (49%) of Ao/IVC ratio with cut-off of 2.0 for predicting severe dehydration (>9% weight loss) with area under the curve at 0.6. Three studies showed increase in IVC diameter with fluid resuscitation with mean change in IVC diameter by 30% in children with significant dehydration (>5% weight loss) and by 22% without significant dehydration (<5% weight loss). Metaanalysis was not completed due to high heterogeneity. CONCLUSIONS: This study showed that the quantity and quality of research on the application of POCUS for the assessment of dehydration in children is limited. There is no criterion standard for assessing the degree of dehydration and no universal definition of the degree of dehydration. Thus, more methodologically rigorous studies are required. Current systematic review does not support the routine use of US to determine the severity of dehydration in children. Despite these limitations, the use of POCUS in children with dehydration demonstrates potential. Given the clear increase in IVC size with rehydration, repeated IVC US scans may be helpful in guiding fluid resuscitation in children with dehydration. From different proposed US parameters, IVC/Ao ratio has better diagnostic accuracy in detecting significant dehydration than Ao/IVC ratio and IVC collapsibility index. Despite low to moderate diagnostic performance, US still showed better assessment of dehydration than physician gestalt and World Health Organization score.

Discordant electroencephalogram epileptiform activity and hemispherectomy in children with refractory epilepsy and encephaloclastic lesions: a case series.

This is a case series of six children with unilateral cerebral palsy and hemispheric encephaloclastic lesions who were evaluated for epilepsy surgery. Seizure onset was in the neonatal period in three children, at 17 months in two, and at 5 years in one. Their ictal and interictal electroencephalogram (EEG) abnormalities showed paradoxical lateralization to the incorrect/'normal' hemisphere or showed bilateral abnormalities. After cautious discussion regarding the discordant electroclinical profile and implications for outcome, they proceeded to a functional hemispherectomy (between ages 4-11y) with good outcomes (at 1-10y follow-up). Their clinical details, EEG findings, electrocorticography, neuroimaging, and histology are reported. Possible surgical candidacy should be evaluated early in children with refractory epilepsy, even those with complex profiles and discordant data from the different investigations. Contralateral or bilateral EEG abnormalities should not preclude consideration of hemispherectomy in children with refractory epilepsy, hemiparesis, and uniclastic lesions.

Case report: congenital intraventricular meningioma demonstrated with fetal MRI.

Congenital intracranial meningiomas are rare lesions. We present a case of congenital intraventricular cystic meningioma, initially characterized with fetal MRI and confirmed postnatally with histopathology. To our knowledge, this is the first in vivo description of a congenital meningioma with fetal MRI. The fetal MRI was able to characterize the lesion as an atypical intraventricular mass which was separate from the choroid plexus, differentiating the mass from a choroid plexus neoplasm. An intraventricular location of the meningioma is more commonly described in pediatric than in adult patients. Meningioma should be considered in the differential for an intraventricular congenital lesion, and fetal MRI is advocated for lesion characterization.

Muscle morphology of the lower leg in ambulant children with spastic cerebral palsy.

INTRODUCTION: In this study we aimed to determine the lower limb morphological characteristics of skeletal muscle of ambulant children with spastic cerebral palsy (CP) and typically developing (TD) children. METHODS: Seventeen children with spastic diplegic CP (10 boys and 7 girls, 5-12 years of age, Gross Motor Function Classification System [GMFCS] level I or II) and 19 TD children (8 boys and 11 girls, 5-11 years of age) underwent lower limb T1-weighted MRI. Morphological characteristics of the triceps surae, including muscle volume, anatomical cross-sectional area, muscle length, and subcutaneous adipose tissue, were digitally quantified, and the proportional distribution calculated. RESULTS: Children with GMFCS II had significantly reduced muscle volume, cross-sectional area, and muscle length, and increased subcutaneous fat compared with TD children. Children classified as GMFCS II consistently exhibited the greatest deficits in all morphology variables. DISCUSSION: Morphological variables were significantly different between the groups. These alterations have the potential to influence the functional capabilities of the triceps surae muscle group. Muscle Nerve 58:818-823, 2018.

Muscle volume alterations after first botulinum neurotoxin A treatment in children with cerebral palsy: a 6-month prospective cohort study.

AIM: This study aimed to track alterations in muscle volume for 6 months in children with cerebral palsy (CP) after the first exposure to botulinum neurotoxin A (BoNT-A), a commonly used focal spasticity treatment. METHOD: Eleven ambulant children (eight males, three females) with spastic CP, mean age 8 years 10 months (SD 3y 1mo) participated. Participants received injections to the affected gastrocnemius. The muscle volume of the gastrocnemius, soleus, tibialis anterior, and hamstrings was measured using magnetic resonance imaging. Muscle volume was normalized to bone length, and changes analysed relative to baseline. Assessments were conducted 1 week before, and 4 weeks, 13 weeks, and 25 weeks after BoNT-A treatment. RESULTS: All children demonstrated positive clinical and functional gains. Muscle volume of the injected gastrocnemius was found to be significantly reduced at 4 weeks (-5.9%), 13 weeks (-9.4%), and 25 weeks (-6.8%). Significant increases in normalized soleus muscle volume were identified at each follow-up, while hamstrings showed significant increase at 4 weeks only. INTERPRETATION: Absolute and normalized muscle volume of the injected muscle reduces after first BoNT-A exposure, and does not return to baseline volume by 25 weeks. Hypertrophy is seen in the soleus up to 25 weeks; the volume of the plantar flexor compartment is stable. WHAT THIS PAPER ADDS: Muscle atrophy after first botulinum neurotoxin A (BoNT-A) exposure in children with cerebral palsy is noted. Mild BoNT-A-induced muscle atrophy is still apparent 6 months after BoNT-A exposure. Hypertrophy is evident in soleus after gastrocnemius BoNT-A exposure. Total plantarflexor volume is unchanged.

Lip repositioning for the treatment of excess gingival display: A systematic review.

BACKGROUND: Lip repositioning is a conservative surgical technique used to treat excess gingival display. An array of modifications has been introduced to the technique over time and as studies show the technique and its modifications to be successful, there is little standardized information for clinicians to make informed decisions when choosing this technique for the treatment of patients with excessive gingival display (EGD). OBJECTIVES: To review the current literature on the topic of lip repositioning for the treatment of excessive EGD, exploring outcome, and result longevity. METHODS: A structured systematic search was carried out using the Ovid database and Web of Science to identify published studies on lip repositioning technique. Search was restricted to studies in the English language, describing a surgical intervention. Case reports were included as the number of published studies was limited. RESULTS: The electronic search identified 93 articles, hand search identified 1 article, and reference search identified 1 article. After excluding duplicates and screening articles, a total of 22 articles met the inclusion criteria. An estimated mean improvement of 3.4 mm (95% confidence interval, 3.0-3.8 mm) was found possible with lip repositioning. Data analysis was performed using only 4 studies, amounting to a total of 33 patients. Potential risk of bias was identified in some of the studies included. CONCLUSIONS: Despite the limited available studies on lip repositioning, an estimated mean improvement of 3.4 mm was found to be possible with surgical lip repositioning, suggesting that the technique could be used successfully to treat EGD. However, more studies are necessary to properly evaluate the treatment approach and stability of the technique. CLINICAL SIGNIFICANCE: Recently, the demand for esthetics has significantly increased, driven by increased patient awareness and the search for an ideal smile. Creating the perfect smile is an intricate process that requires a multidisciplinary approach, with careful consideration of the lips and the gingival outline. Excess gingival display results in an unaesthetic smile, lip repositioning offers a comparatively simple solution for this problem. While the quality literature on this topic is limited statistical analysis of collected studies show that an estimated mean improvement of 3.4 mm can be achieved with surgical lip repositioning.

Patron perception and utilization of an embedded librarian program.

OBJECTIVE: The study measured the perceived value of an academic library's embedded librarian service model. SETTING: The study took place at the health sciences campuses of a research institution. METHODS: A web-based survey was distributed that asked respondents a series of questions about their utilization of and satisfaction with embedded librarians and services. RESULTS: Over 58% of respondents reported being aware of their embedded librarians, and 95% of these were satisfied with provided services. CONCLUSIONS: The overall satisfaction with services was encouraging, but awareness of the embedded program was low, suggesting an overall need for marketing of services.

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.

Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.

Adapting an embedded model of librarianship, college by college.

Librarians are increasingly moving out of the library and into the wider university setting as patrons spend more time seeking information online and less time visiting the library. The move to embed librarians in colleges, departments, or customer groups has been going on for some time but has recently received more attention as libraries work to find new ways to reach patrons that no longer need to come to the physical library. Few universities have attempted to embed all their librarians. This case study describes how one group of health sciences librarians dispersed its professional staff throughout its campuses and medical centers.

Muscle volume alterations in spastic muscles immediately following botulinum toxin type-A treatment in children with cerebral palsy.

AIM: With evidence for an atrophic effect of botulinum toxin type A (BoNT-A) documented in typically developing muscles, this study investigated the immediate morphological alterations of muscles in children with cerebral palsy (CP) after BoNT-A treatment. METHOD: Fifteen children (10 males, five females; age range 5-11y, mean age 8y 5mo, SD 1y 10mo) with spastic diplegic CP [Gross Motor Function Classification System Levels I (n=9) and II (n=6)] receiving BoNT-A injections for spasticity management were included. None of the children was a first-time receiver of BoNT-A. Magnetic resonance imaging and Mimics software assessed muscle volume, timed 2 weeks before and 5 weeks after injection. All participants received BoNT-A bilaterally to the gastrocnemius muscle, and five participants also received BoNT-A bilaterally to the medial hamstring muscles. Functional assessment measures used were the 6-Minute Walk Test (6-MWT), the Timed Up and Go (TUG) test, and hand-held dynamometry. RESULTS: Whilst total muscle group volume of the injected muscle group remained unchanged, a 4.47% decrease in the injected gastrocnemius muscle volume (p=0.01) and a 3.96% increase in soleus muscle volume (p=0.02) was evident following BoNT-A. There were no statistically significant changes in function after BoNT-A as assessed by the TUG. There was also no statistically significant change in distance covered in the 6-MWT. Muscle strength, as assessed using hand-held dynamometry was also not statistically different after BoNT-A treatment. INTERPRETATION: Muscle volume decreases were observed in the injected muscle (gastrocnemius), with synergistic muscle hypertrophy that appeared to compensate for this decrement. The 4% to 5% decrease in the volume of BoNT-A injected muscles are not dramatic in comparison to reports in recent animal studies, and are a positive indication for BoNT-A, particularly as it also did not negatively alter function.

Gallbladder polyposis in metachromatic leukodystrophy.

Gallbladder polyposis is a rare entity that can be associated with conditions such as metachromatic leukodystrophy (MLD), but the literature is sparse. We present a child with gallbladder polyposis who was diagnosed with MLD 15 months later despite normal neuroimaging and clinical examination initially.

Gender-specific differences in adipose distribution and adipocytokines influence adolescent nonalcoholic fatty liver disease.

UNLABELLED: Nonalcoholic fatty liver disease (NAFLD) is a predominantly adult-diagnosed disorder. Knowledge regarding the epidemiology, phenotype, and metabolic risk factors, during adolescence is limited. We sought to determine the prevalence, phenotype, and predictors of NAFLD in 1170 community-based adolescents in the Western Australian Pregnancy Cohort (Raine) Study (the Raine Cohort) who underwent a cross-sectional assessment that included questionnaires, anthropometry, cardiovascular examinations, blood tests, and abdominal ultrasound examinations. Among the 1170 adolescents assessed, the prevalence of NAFLD was 12.8%. Females compared with males had a significantly higher prevalence of NAFLD (16.3% versus 10.1%, P = 0.004) and central obesity (33.2% versus 9.9%, P < 0.05). The severity of hepatic steatosis was associated with the body mass index, waist circumference, subcutaneous adipose tissue thickness (SAT), serum leptin level, homeostasis model assessment for insulin resistance score (P < 0.001 for all), and serum alanine aminotransferase level (P < 0.005) in both genders, but it was associated with increasing visceral adipose tissue thickness (VAT; P < 0.001) and decreasing serum adiponectin levels (P < 0.05) in males alone. Males and females with NAFLD had similar amounts of SAT (P > 0.05); however, in comparison with females with NAFLD, males with NAFLD had greater VAT, a more severe metabolic phenotype with higher glucose levels and systolic blood pressure and lower adiponectin and high-density lipoprotein cholesterol levels (P < 0.001 for all), and greater measures of liver injury (alanine aminotransferase and aspartate aminotransferase, P < 0.001 for all). Similarly, metabolic syndrome was more common in males than females with NAFLD (24% versus 8%, P = 0.01). Suprailiac skinfold thickness predicted NAFLD independently of the body mass index, insulin resistance, and VAT. CONCLUSION: Gender differences in adolescent NAFLD are related to differences in adipose distribution and adipocytokines. The male phenotype of NAFLD is associated with more adverse metabolic features and greater visceral adiposity than the female phenotype despite the lower prevalence of NAFLD.

Childhood muscle morphology and strength: alterations over six months of growth.

INTRODUCTION: The purpose of this study was to establish the nature and stability of the strength-size relationship for the knee flexors and extensors across a 6-month period of childhood growth. METHODS: Nineteen typically developing children aged 5-11 years underwent lower limb magnetic resonance imaging (MRI) and dynamometry strength assessments on 2 occasions, 6 months apart. Muscle volume (MV) and maximum anatomical cross-sectional area (aCSA) for the knee flexors and extensors were determined using MRI analysis software. Isokinetic dynamometry determined corresponding isometric and isokinetic strength. RESULTS: Strong correlations were found between muscle size and strength for both the knee flexors and extensors (r = 0.84-0.90; P < 0.01). Furthermore, the ratio of strength to muscle size remained consistent across 6 months of prepubescent growth. CONCLUSIONS: Increases in thigh muscle strength were relative to those in muscle size, suggesting that muscle growth may play an important role in the development of strength during childhood.

The use of vascularized fibula flap in mandibular reconstruction; A comprehensive systematic review and meta-analysis of the observational studies.

BACKGROUND: Vascularized fibular flaps are considered the gold standard for the reconstruction of segmental defects in the mandible. This review compares the complication and success rates of these techniques between primary and secondary reconstruction, as well as between lateral and antero-lateral defects. TYPE OF STUDIES REVIEWED: A systematic review and meta-analysis were conducted according to PRISMA protocol and the Cochrane Handbook for Systematic Reviews of Interventions. The authors performed an independent comprehensive search using PubMed, Ovid MEDLINE, Web of Science, the Cochrane Central Register of Controlled Trials, ClinicalTrials.gov and COS Conference Papers Index according to established inclusion and exclusion criteria. The methodological index for nonrandomized studies (MINORS) was used to assess the quality of the included studies. Meta-analysis was conducted to compare the type of reconstruction and location of the defect. RESULTS: Seventy-eight studies, involving 2461 patients, were eligible. 83.7% of the included patient received primary reconstruction with vascularized fibular flap. The overall flap success rate was 93%. There was improvement in MINORS quality score over time with positive correlation with the publication year (r = 0.5549, P < 0.0001, CI 0.3693 to 0.6979). Meta-analysis indicated no significant association in flap success between primary and secondary reconstruction, or lateral and antero-lateral defects. CONCLUSION: Based on the available studies, this review found no evidence of difference in success or complication rates between primary and secondary reconstruction or between lateral and anterolateral defects. High-quality clinical studies are required to analyze the outcome of these techniques, especially regarding the impact of chemotherapy, radiation therapy, implant-supported dental prostheses, and preoperative planning, on the outcome of reconstruction.

Pulpotomy for carious pulp exposures in permanent teeth: A systematic review and meta-analysis.

OBJECTIVES: The most commonly-accepted strategy for managing irreversible pulpitis, an irreversible condition of dental pulp inflammation, is root canal treatment, which is limited by high costs and complex techniques. High success rates have been reported for the use of pulpotomy in managing pulp exposure resulting from extensive caries. The objective of the present work was to evaluate the effectiveness and cost-effectiveness of pulpotomy and associated medicaments in saving permanent teeth with pulp exposure resulting from extensive caries. SOURCES: Multiple databases were searched on January 12, 2019, without limitations on the language or year of publication. STUDY SELECTION: Randomized controlled trials comparing pulpotomy with alternative treatments, or comparing two or more medicaments in pulpotomy for permanent teeth with carious pulp exposure were included. DATA: Seventeen studies reported in 21 articles were included. Intention-to-treat analyses on studies comparing pulpotomy and other treatment modalities tended to favor pulpotomy. Meta-analysis was not performed on comparisons of pulpotomy and other treatments because of the limited number of studies. Most evidence on comparisons among different pulpotomy medicaments was found in trials comparing mineral trioxide aggregate (MTA) and calcium hydroxide, with the results of meta-analyses favoring MTA. Data were insufficient to determine the cost-effectiveness of successful modality. CONCLUSIONS: Pulpotomy is a prospective substitute for root canal treatment in managing permanent teeth with carious pulp exposures, even in permanent teeth with irreversible pulpitis. Large, well-designed trials comparing pulpotomy with other treatments in terms of cost-effectiveness should be informative. CLINICAL SIGNIFICANCE: The success of pulpotomy in managing irreversible pulpitis challenges the rhetoric that irreversible pulpitis can only be managed by root canal treatment. Cost-effectiveness analysis rather than analysis on effectiveness of treatment outcome alone should be considered in all health care domains to evaluate the benefits of alternative treatment options.

Use of bevacizumab as a single agent or in adjunct with traditional chemotherapy regimens in children with unresectable or progressive low-grade glioma.

In pediatric low-grade gliomas not amenable to complete resection, various chemotherapy regimens are the mainstream of treatment. An excellent overall survival of these patients makes justification of the intensification of chemotherapy difficult and calls for the development of new strategies. Bevacizumab, a humanized monoclonal antibody directed against Vascular endothelial growth factor (VEGF), has been successfully used in combination with irinotecan in a number of adult and pediatric studies and reports. Fifteen patients at median age of 7 years old (range 3 months to 15 years) were treated with bevacizumab in combination with conventional low-toxicity chemotherapy. The majority had chiasmatic/hypothalamic and midline tumors, seven had confirmed BRAF pathway alterations including neurofibromatosis type 1 (2). Fourteen patients had more than one progression and three had radiotherapy. No deaths were documented, PFS at 11 and 15 months was 71.5% ± 13.9% and 44.7% ± 17.6% respectively. At the end of follow-up 40% of patients has radiologically stable disease, three patients progressed shortly after completion of bevacizumab and two showed mixed response with progression of cystic component. Rapid visual improvement was seen in 6/8 patients, resolution of endocrine symptoms in 2/4 and motor function improvement in 4/6. No relation between histology or BRAF status and treatment response was observed. Treatment-limiting toxicities included grade 4 proteinuria (2) and hypertension (2) managed with cessation (1) and pausing of therapy plus antihypertensives (1). In conclusion, bevacizumab is well tolerated and appears most effective for rapid tumor control to preserve vision and improve morbidity.

A review of structural brain abnormalities in Pallister-Killian syndrome.

BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS. RESULTS: We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS. CONCLUSION: Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.