Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

Introduction: Dandy-Walker complex and pleomorphic xanthoastrocytomas are both rare disease entities that typically manifest early in life and are associated with congenital etiological factors. Dandy-Walker complex is a cerebellar malformation associated with a series of anatomical changes. The disease onset is usually at birth or during infancy. Late onset in adulthood is uncommon. Pleomorphic xanthoastrocytoma is a rare WHO grade II astrocytic tumor affecting mainly young adults. Concomitant occurrence of Dandy-Walker complex and pleomorphic xanthoastrocytoma has not been previously reported.Patient concerns and diagnosis: A 30-year-old woman with a previous history of unconfirmed resected lateral ventricle meningioma presented with severe headache for 1 day. Imaging examination revealed a mass in the right lateral ventricle with heterogeneous signal patterns, changes in the posterior fossa corresponding to a Dandy-Walker variant, and mild hydrocephalus.Interventions and outcomes: Surgical complete resection of the mass was achieved. postoperative histopathological examination confirmed WHO grade II pleomorphic xanthoastrocytoma. Three years postsurgery, ventriculoperitoneal shunt was performed due to worsening of hydrocephalus. The patient has since remained symptom-free.Conclusion: This is the first report of concomitant occurrence of Dandy-Walker complex and pleomorphic xanthoastrocytoma. The association of neurological congenital malformation with intracranial neoplasms may be multifactorial, with underlying role of genetic mutations or chromosome alterations.

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“…Author and year Age and sex Concurrent neoplasm Confirmed chromosome or genetic alteration Associated syndrome [43] Noriyuki Akasaka, 2013…”

Section: Ref Nomentioning

confidence: 99%

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report

Luo

Wang

et al. 2022

Medicine

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“…Specific WT1 defects can lead to different phenotypes including (i) WAGR (Wilms–aniridia–genitourinary–mental retardation) syndrome (MIM 194072) due to heterozygous constitutional microdeletions at 11p13 encompassing both WT1 and PAX6 (MIM 607108, coding for a transcription factor controlling the development of eye, nose, central nervous system, and pancreas) (Fantes et al, ); (ii) Denys–Drash syndrome (MIM 194080) with WT, nephropathy, genitourinary abnormalities (males) due to specific missense WT1 mutations (Pelletier et al, ); and (iii) Frasier syndrome (MIM 136680) which is nephropathy with gonadal dysgenesis and gonadoblastoma due to mutations in intron 9 that alter WT1 splicing (Barbaux et al, ). WT also occurs in the context of rare conditions such as Bloom syndrome (Moreira et al, ), mosaic variegated aneuploidy syndrome ( BUB1B ) (Akasaka et al, ), Fanconi anemia ( BRCA2 , PALB2 ) (Reid et al, ; Serra et al, ), Beckwith–Wiedemann syndrome (Mussa et al, ), Perlman syndrome ( DIS3L2 ; coding for exoribonuclease degrading RNAs with 3′‐end poly‐uridylation; MIM 614184) (Astuti et al, ), Simpson–Golabi–Behmel syndrome (Neri, Gurrieri, Zanni, & Lin, ), Li–Fraumeni syndrome (Schlegelberger et al, ), Bohring–Opitz syndrome ( ASXL1 ; the gene product is a Polycomb group member involved in transcriptional regulation; MIM 612990) (Russell et al, ), mulibrey (muscle–liver–brain–eye) nanism ( TRIM37 ; coding for E3 ubiquitin‐protein ligase; MIM 253250) (Avela et al, ), and GLOW (Global developmental delay, Lung cysts, Overgrowth, and WT) syndrome ( DICER1 mosaic) (Klein et al, ). In addition, patients with isolated hemihyperplasia (MIM 235000) have an increased WT risk (Dempsey‐Robertson, Wilkes, Stall, & Bush, ; Hoyme et al, ; Lapunzina, ).…”

Section: Typical Childhood Cancer Types and Relevant Cpsmentioning

confidence: 99%

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Ripperger

Bielack

Borkhardt

et al. 2017

American J of Med Genetics Pt A

211

184

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Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

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“…Similarly, variability has been described in the phenotype of mosaic variegated aneuploidy. A high index of suspicion is necessary on the part of pediatricians and pediatric specialists to ensure that patients are referred to geneticists (18,36). Dumoucel et al propose a referral to genetics when there is bilateral disease, a family history of WT, a family history of cancer, or a major malformation or two or more minor malformations on physical or radiologic examination (37).…”

Section: Screening/surveillancementioning

confidence: 99%

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Liu¹,

Suson²

2020

Transl Androl Urol

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Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are responsible for 9-17% of all cases of the malignancy. Due to an earlier age at WT diagnosis and an increased incidence of bilateral and metachronous disease, management of syndromic WT warrants a distinct approach from that of non-syndromic WT. This review of English-language manuscripts about WT focuses on the most common syndromes, surveillance protocols and current treatment strategies. Highlighted syndromes include those associated with WT1, such as WAGR (Wilms-Aniridia-Genitourinary-mental Retardation), Denys-Drash syndrome (DDS), and Frasier syndrome, 11p15 defects, such as Beckwith-Wiedemann syndrome (BWS), among others. General surveillance guidelines include screening renal or abdominal ultrasound every 3-4 months until the age of 5 or 7, depending on the syndrome. Further, some of the predisposing conditions also increase the risk of other malignancies, such as gonadoblastoma and hepatoblastoma. With promising results for nephron-sparing surgery in bilateral non-syndromic WT, there are increasing reports and recommendations to pursue nephron-sparing for these patients who are at greater risk of bilateral, metachronous lesions. In addition to the loss of renal parenchyma from malignancy, many patients are at risk of developing renal insufficiency as part of their syndrome. Although there may be some increase in the complication rate, recurrence free survival seems equivalent. Some conditions require specialized approaches to adjuvant therapy, as their syndrome may make them especially susceptible to side effects.

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Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

Cited by 9 publications

References 13 publications

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

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