Low grade glioma in an adult patient with Sotos syndrome

Theodoulou, Elisavet; Baborie, Atik; Jenkinson, Michael D.

doi:10.1016/j.jocn.2014.06.105

Cited by 7 publications

(6 citation statements)

References 17 publications

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“…Adult SS medical issues are mainly consequent to childhood phenotype: renal anomalies (hydronephrosis, ureter obstruction, urolithiasis), scoliosis and chronic pain being the most common. Medical conditions unrelated to childhood phenotype include nonprogressive aortic dilatation, contractures, progressive essential tremor, hearing loss, ophthalmological issues, dental problems, lower limb lymphedema, and tumors (Cole, Hughes, Jeffreys, Williams, & Arnold, 1992; Fickie et al, 2011; Foster et al, 2019; Martinez‐Glez & Lapunzina, 2007; Theodoulou, Baborie, & Jenkinson, 2015).…”

Section: Introductionmentioning

confidence: 99%

Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

Carli¹,

Gazzin²,

Bongioanni

et al. 2020

American J of Med Genetics Pt A

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Macrocephaly, defined as head circumference ≥ 2 SDs, is a cardinal feature of Sotos syndrome (SS) and generally persists in adulthood. Subdural fluid collection, typically associated with macrocephaly, is described in children due to anatomical conformation, and in adulthood due to brain atrophy and ex-vacuo hydrocephalus. On the other hand, a true, symptomatic, chronic subdural hematoma (CSH) is a previously unreported complication of SS in adulthood. Here we describe the first SS patient presenting symptomatic CSH, leading to frequent hospitalizations for surgical evacuations that consistently recurred. Middle meningeal artery (MMA) embolization and epidural blood patch (EBP) allowed to resolve the CSH with complete resolution of clinical signs and symptoms. We hypothesize that appearance and recurrences of CSH may be related to pathological biomechanics of brain, cerebro-spinal fluid and skull, secondary to anatomical features of SS. In this context, surgical evacuation may be less efficient than usual to cure CSH. Alternative treatment to avoid blood extravasation, as MMA embolization, or to cure concurrent causes of the pathology, as EBP, may be considered.

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Section: Introductionmentioning

confidence: 99%

Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

Carli¹,

Gazzin²,

Bongioanni

et al. 2020

American J of Med Genetics Pt A

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“…Brain MRI findings in patients with Sotos syndrome suggest delayed or disturbed maturation, particularly of midline structures, and include ventricular anomalies, enlargement of supratentorial extracerebral fluid spaces, and anomalies of the corpus callosum and other midline structures [9,15]. So far, low-grade tumour associated with epilepsy of Sotos syndrome has been reported in only two cases; in a child and an adult with low-grade glioma [13] and astrocytoma [14].…”

Section: Discussionmentioning

confidence: 99%

Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy

Bättig¹,

Rosch²,

Steindl³

et al. 2021

Epileptic Disorders

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Tumour-associated epilepsy accounts for a quarter of paediatric patients undergoing epilepsy surgery with the vast majority achieving long-term seizure and drug freedom. We report the case of an eight-year-old patient who presented with developmental delay and overgrowth, followed by temporal lobe seizures that were attributed to a mesio-temporal brain tumour, and who was eventually treated with epilepsy surgery. Histopathology revealed a diffuse astrocytoma but its gross total resection surprisingly failed to control the temporal lobe seizures. Genetic testing identified a de novo pathogenic variant in the NSD1 gene, thus establishing the diagnosis of Sotos syndrome. Sotos syndrome is a rare overgrowth syndrome with an increased incidence of malignancy, including the very rare occurrence of brain tumours. Seizures are frequent in patients with Sotos syndrome, often occurring with temporal lobe semiology and ictal EEG patterns in the absence of a brain lesion, and usually responding to anti-seizure medication. Our case highlights Sotos syndrome as a rare but important pitfall in the presurgical workup of temporal lobe epilepsy that should be considered particularly in MRI-negative cases but also in the presence of a focal lesion that does not fully explain the clinical picture. Most importantly, our observations underline the value of thorough presurgical diagnostics including genetic testing, even in apparently straightforward cases of lesional epilepsy, to rule out an underlying genetic aetiology that may not be treated by surgery. Finally, our findings emphasize the need to re-evaluate our less successful epilepsy surgery cases and offer informed counselling and prognostication.

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“…3 The other was an adult male with a lowgrade glioma identified when he presented with left face and arm paresthesia; the authors noted that he had a past history of generalized tonic-clonic seizures, but it was not clear that these were thought related to the neoplastic process. 4 Based on this admittedly very small sample, it appears that for Sotos syndrome patients with brain tumors and epilepsy, resection of the lesion often has little to no impact on seizure control.The experience of Bättig et al highlights the importance of genetic testing as part of an epilepsy presurgical workup. Although in many cases a genetic diagnosis will not change the recommendation to proceed with surgery, the finding of an underlying genetic condition that predisposes to epilepsy will change the counseling of the individual and his/ her family regarding the long-term prognosis.…”

mentioning

confidence: 95%

“… 3 The other was an adult male with a low‐grade glioma identified when he presented with left face and arm paresthesia; the authors noted that he had a past history of generalized tonic‐clonic seizures, but it was not clear that these were thought related to the neoplastic process. 4 Based on this admittedly very small sample, it appears that for Sotos syndrome patients with brain tumors and epilepsy, resection of the lesion often has little to no impact on seizure control.…”

mentioning

confidence: 95%

Response: Sotos Syndrome and the added value of genetic workup in epilepsy surgery

Myers

2021

Epilepsia Open

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To the editors: I thank Bättig et al for their very interesting letter in response to our paper, "Seizures in Sotos syndrome: Phenotyping in 49 patients." 1 They recently described a patient with drugresistant focal epilepsy and a diffuse astrocytoma, who continued to have seizures following resection of the lesion. 2 The patient was subsequently diagnosed with Sotos syndrome and found to carry a pathogenic variant in NSD1. Sotos syndrome is associated with an increased risk for malignancy, though cerebral tumors are extremely rare. Our cohort did not include any patients in whom seizures occurred due to an intracranial neoplastic process.Interestingly, of the other two patients with Sotos syndrome and brain tumors described in the literature, one was a boy with intractable epilepsy that also continued after resection of a ganglioglioma. 3 The other was an adult male with a lowgrade glioma identified when he presented with left face and arm paresthesia; the authors noted that he had a past history of generalized tonic-clonic seizures, but it was not clear that these were thought related to the neoplastic process. 4 Based on this admittedly very small sample, it appears that for Sotos syndrome patients with brain tumors and epilepsy, resection of the lesion often has little to no impact on seizure control.The experience of Bättig et al highlights the importance of genetic testing as part of an epilepsy presurgical workup. Although in many cases a genetic diagnosis will not change the recommendation to proceed with surgery, the finding of an underlying genetic condition that predisposes to epilepsy will change the counseling of the individual and his/ her family regarding the long-term prognosis. At present, genetic testing is performed in a relatively small fraction of patients undergoing epilepsy presurgical evaluation. 5 However, given that the cost of an epilepsy gene panel is relatively small in the context of the financial investment made in patients considered for epilepsy surgery, it is probably reasonable that genetic testing becomes a standard element of such evaluations.

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Low grade glioma in an adult patient with Sotos syndrome

Cited by 7 publications

References 17 publications

Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy

Response: Sotos Syndrome and the added value of genetic workup in epilepsy surgery

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