Nocturnal frontal lobe epilepsy in mucopolysaccharidosis

Bonanni, Paolo; Volzone, Anna; Randazzo, Giovanna; Antoniazzi, Lisa; Rampazzo, Angelica; Scarpa, Maurizio; Nobili, Lino

doi:10.1016/j.braindev.2013.12.002

Cited by 10 publications

(10 citation statements)

References 11 publications

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“…Ictal EEG recording showed generalized, subcontinuous spike waves followed by a sustained frontal epileptic activity that subsided with phenobarbital and clonazepam add-on therapy. Non-convulsive SE previously described in MPS II ( 21 ) and in MPS III ( 18 ) may complicate the course of patients with neuronopathic MPS and may be difficult to recognize owing to severe neurobehavioral impairment in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…Convulsions in MPS III are mainly GTCS ( 8 , 12 , 20 ). Combined seizure type with focal seizures may occur ( 21 ) as well as unusual seizure patterns, such as nocturnal bouts of laughing or “panting” ( 8 ). According to the new ILAE classification of seizures and epilepsy ( 22 ), in our series, the main epilepsy type was generalized epilepsy (75%) followed by focal epilepsy (37%).…”

Section: Discussionmentioning

confidence: 99%

“…Bonanni et al described a patient with MPS III A that exhibited profound cognitive impairment, impaired speech, hearing loss, uncontrollable hyperactivity, and sleep disturbances at the age of 11. The sleep was disturbed by recurring episodes of sudden wakening and chaotic motor activity and by frequent stereotyped attacks of motor automatism (pedaling), rotation of the trunk, vocalization, and frightened expression consistent with a diagnosis of nocturnal frontal lobe epilepsy ( 21 ). Based on the present and the abovementioned study ( 21 ), differentiation of abnormal paroxysmal motor events in sleep and parasomnias is challenging in patients with a neurodegenerative disorder, such as MPS III and epilepsy treatment may play a role in controlling associated behavioral and sleep disturbances in these patients.…”

Section: Discussionmentioning

confidence: 99%

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Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

et al. 2021

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Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration. Patients with MPS III present with developmental stagnation and/or regression, sleep disturbance, and behavioral abnormalities usually in the first years of life. Epilepsy may occur in a proportion of patients during the disease course. However, the progression of epilepsy and EEG changes in MPS III have not been systematically investigated. We report electroclinical features in a cohort of patients with MPS III over a follow-up period ranging from 6.5 to 22 years. Participants include 15 patients (11 females; aged 7–31 years) with MPS III A (n = 7, 47%), MPS III B (n = 5, 34%), MPS III C (n = 2, 13%), and MPS III D (n = 1, 6%). At the time of this study, 8 out of 15 patients (53%) had epilepsy. Epilepsy occurred in patients with advanced disease even in the first decade of life (mean age at onset: 12.1 ± 6.7 years). However, seizure onset may also be associated with abrupt worsening of the neurobehavioral phenotype. The main epilepsy types observed were generalized (four out of eight, 50%), followed by focal (three out of eight, 37%) and combined (two out of eight, 25%) epilepsy and status epilepticus (one out of eight, 12.5%). Seizures were generally controlled by one antiepileptic drug (AED) and most patients (seven out of eight, 87%) were still on therapy after a median follow-up period of 5 years (range: 1–9 years). A total of 66 EEGs were analyzed with a median EEG follow-up duration of 7 years (range: 6 months−14 years). Slowing of the background activity occurred in 7 (46%) patients aged 4–19 years. Epileptiform EEG abnormalities were observed in 10 patients at a mean age of 9.6 ± 2.9 years. EEG epileptiform discharges were not unavoidably linked to epilepsy. Early recognition and careful monitoring of electroclinical features in MPS III is necessary for appropriate care and for the detection of disease progression.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

et al. 2021

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“…(3) Effects in pebbling skin lesions [26,27] Case report (Srinivas SM et al, 2017) [51] No clinical study after 8 years (4) Effects in hyperactivity, aggressive behavior, language functioning, and social interaction [28] No clinical study after 7 years No clinical study after 7 years [30,31] Case report Scarpa et al, 2017 Bonanni et al, 2014 [57,58] No clinical study after 8 years 7ERT effects in vision [32,33] Case report (Yamanishi R et al, 2019) [59] No clinical study after 5 years (8) ERT effect in autoimmune anemia, thrombocytopenia, or thrombocytopenic purpura [34,35] Case report (Alcántara-Ortigoza et al, 2016) [60] No clinical study after 8 years (9) Botulinum Toxin for the treatment of equinus deformity with an ERT [36] No new citations No clinical study after 8 years (10) ERT effects in involuntary movements (chorea) [37] No new citations No prospective study after 12 years (11) Early ERT effects in bone abnormalities [38] Cohort study (Manara R [39][40][41][42][43][44][45][46][47][48][49]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Secondary Outcomesmentioning

confidence: 99%

“…Novelties proposed in case reports of ERT in MPS-II patients and in clinical studies citing these case reports. References [ 16 , 17 , 18 , 19 , 20 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , …”

mentioning

confidence: 99%

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

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Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

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Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses

Rapoport

Mitchell

2017

Molecular Genetics and Metabolism

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The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. Sleep disorders are a frequent manifestation of all types of MPS. Underlying causes are diverse and comprised of both respiratory and central nervous system (CNS) abnormalities. Sleep disordered breathing such as obstructive sleep apnea and nocturnal hypoventilation can arise in patients with upper airway obstruction and/or with alterations in respiratory mechanics, causing restrictive pulmonary disease. MPS patients with CNS disease can also develop sleep disturbances unrelated to ventilatory impairments, often associated with severe behavioral problems or night-time epileptic seizures. The present review discusses the pathophysiology, evaluation, and management of sleep disorders in MPS based on information from a meeting on the brain in MPS, attended by an international group of experts (April 28-30, 2016, Stockholm, Sweden), and additional literature searches.

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Nocturnal frontal lobe epilepsy in mucopolysaccharidosis

Cited by 10 publications

References 11 publications

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses

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