![]() Pathogenesis of neurological manifestations in MPS III involve both neuronal and non-neuronalĬells in the central nervous system (CNS) 4. Sulfate leads to a more pronounced somatic presentation of the disease 3. In MPS type III, while in other MPS types impaired hydrolysis of chondroitin/dermatan Accumulation of heparan sulfate accounts for predominant nervous system involvement With a mutation in the NAGLU gene, which encodes α-N-acetylglucosaminidase on chromosome 17q21 1 c.1927C>T mutation is considered to cause an attenuated clinical phenotype of theĭisease 2. Our patient was diagnosed with MPS IIIB (OMIM #252920), associated It consists of several subtypesĭepending on the site of the mutation and the following enzymatic deficiency in heparan A metabolic lysosomal storageĭisorder, MPS III has an autosomal recessive inheritance. (estimated prevalence 0.3-4.1 cases per 100,000 newborns). MPS type III (Sanfilippo syndrome) is the most common type of mucopolysaccharidoses Was slowly increased to 1,200mg/day followed by a substantial reduction in the number After one month, daily dose of carbamazepine The patient was started with carbamazepine 800mg/day (400mg b.i.d.), leading to over 80% drop in seizure frequency. K-complex is followed by fast rhythmic activity in the frontal regions lasting for 0,3-0,5 seconds, before EEG is obscured with myographic artifacts.īased on seizure semiology and EEG abnormalities the patient was diagnosed with SHE. Overnight video-EEG monitoring: one of the seizures arising from non- REM sleep (stage 2). EEG monitoring also revealed interictal epileptiform activity in the frontal regions.įigure 2. The events were preceded by rhythmic fast activity over the frontal regions ( Figure 2). Motor seizures, characterized by sudden startled awakenings and irregular hypermotorĪctivity in all four limbs ( Figure 1). Overnight video-EEG monitoring was performed, which captured 21 focal stereotyped This variant was paternally inherited.īased on these findings a diagnosis of mucopolysaccharidosis (MPS) type IIIB was made. Second heterozygous mutation was identified in exon 1 of the NAGLU gene (chr17:40688599G>A, c.309G>A, p.Trp103Ter). The first proband’s mutation was identified in exon 6 of the NAGLU gene (chr17:40695951C>T c.1927C>T, NM_0000263.3). Proband and confirmed by Sanger sequencing of the family trio (parentage verified). Were revealed in the NAGLU gene through whole-exome sequencing (hg19). Up to 14.3mg/ mmol (normal range 0-8.3mg/mmol). The level of urinary glycosaminoglicans was increased Abdominal ultrasound exam revealed hepatomegaly. Neurological examination revealed signs of moderate dysarthriaĪnd coordination impairment. Upon admission, clinical examination revealed dolichocephaly, narrow forehead, thickĮyebrows with synophris, hypertrichosis, prominent philtrum, broad nasal tip, andĪ thickened lower lip. Was a college student, experiencing fatigue, attention decline, and affective lability Progressed over the course of the following years. Gait impairment and cognitive deterioration Skills when the patient was three years old. Her mother first noticed poor coordination, disturbance of articulation and fine motor These episodes first started at the age of 6, increasing fromĥ to almost 60-70 per night by the age of 16. With MPS IIIB, which provides further support for extended EEG monitoring during sleepĪn 18-year-old female presented to our clinic with a history of disrupted sleep causedīy sudden brief awakenings with hypermotor activity, lasting for 5-10 seconds, followedīy muscle soreness. ![]() We report another case of SHE in a patient Only a few cases of SHE have been described in patients with MPS, Previously known as nocturnal frontal lobe epilepsy (NFLE), is an epileptic syndromeĬharacterized by hypermotor seizures (HS) during sleep, causing sleep disruption in Involvement of the central nervous system. Prevalent in MPS type III (Sanfilippo syndrome), which is characterized by predominant Including non-epileptic events such as parasomnias or sleep apnea. Various sleep disturbances are common in patients with mucopolysaccharidoses (MPS), Received: NovemAccepted: February 10 2021 Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III. Citation: Abramova AA, Attarian HP, Dolgova SM, Belyakova-Bodina AI, Iakovenko EV, Broutian AG.
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