Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. The patient presented with segmental myoclonic jerks at the age of 6 weeks, and infantile spasms at the age of 3.5 months. Her seizures were resistant to treatment. Multiple electroencephalography recordings showed deterioration of the background activity, followed by multifocal abnormalities before progressing to hypsarrhythmia. Ophthalmologic examination revealed bilateral dysplastic, coloboma-like optic discs. Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination. A de novo heterozygous in-frame deletion was detected in SPTAN1: c.6619_6621delGAG (p.E2270del). This report supports the causative relationship between SPTAN1 mutations and early onset intractable seizures with severe hypomyelination and widespread brain volume reduction. Coloboma-like optic discs might be an additional feature observed in patients with SPTAN1 mutations.
Spinal epidural abscess (SEA) has an incidence of 0.2-1.2 per 10000 hospital admissions and is particularly rare in neonates and infants [6]. It can be potentially devastating, thus prompt diagnosis is essential for a good outcome.A 3-week-old infant boy, who was born after an uneventful pregnancy and delivery, was admitted to our hospital due to progressively decreasing movement of the upper limbs, which had been first noticed 1 week prior to admittance. During this time, he had a brief febrile episode. Upon admission he was irritable, with a tympanic temperature of 37.4°C. Paresis and areflexia of both arms were found, but finger movements were still present in the right arm. No other abnormalities were found upon clinical examination. Laboratory tests showed a slightly elevated level of C-reactive protein (16) and a white blood cell count of 10,400 cells/mm 3 . There was an elevated protein level (1.32 g/L) and pleocytosis (51) in the cerebrospinal fluid (CSF). The blood, CSF and urine cultures were found to be microbiologically negative. Magnetic resonance imaging (MRI) of the cervical spine revealed discitis at level C4/C5 and anterior epidural and prevertebral abscesses (Fig. 1a).The boy was immediately operated on using an anterior approach to C4/C5: after the incision of a glossy, bulging anterior longitudinal ligament, yellowish pus was released and washed-out. Particles of the intervertebral disc C4/C5 were removed and the intervertebral space was enlarged by a bone spreader and irrigated with antibiotics. The postoperative course was uneventful. Beta haemolytic streptococci were grown on culture. Systemic antibiotic therapy with ampicillin, clindamycin and gentamicin was started before surgery and continued for 3 weeks.The boy recovered without any sequaelae. No abnormalities were found on clinical or neurological examination 2 months after surgery. His development was normal on follow-up 2 and 13 months later. MRI 2 months postoperative revealed a complete resolution of the abscess and no abnormalities in the cervical spine or spinal cord (Fig. 1b).While in adults a classic clinical course of SEA with back pain, spinal root pain, paresis and paralysis is obvious, the presentation in infants is unspecific. The localising signs of a SEA are related to the anatomical configuration of the epidural space, which dorsally contains a relatively large amount of areolar tissue and a rich venous plexus, therefore providing an available focus for infection, which may reach the epidural space by direct extension from local vertebral osteomyelitis or by hematogenous spreading [1,3]. The most frequently isolated etiologic agent is Staphylococcus aureus. Streptococcus sp., Candida and coliform bacteria have also been reported [4]. MRI is considered to be the investigation methodology of choice. Gadolinium-enhanced images have increased the sensitivity of MRI for infectious processes.Our experience shows that early recognition and a combination of surgical intervention and antibiotic therapy provides excellent results...
Achiasmia is a rare disorder of visual pathway maldevelopment that can show diverse clinical and magnetic resonance imaging spectra. The aim of this study was to define the characteristics of visual evoked potentials (VEPs) that differentiate abnormal optic-nerve-fibre decussation in children with achiasmia versus children with albinism and healthy children. In four children with achiasmia, the following VEP characteristics were studied and compared to children with ocular albinism and with healthy control children: (a) flash and pattern onset VEP interhemispheric asymmetry; (b) flash N2, P2 and onset C1 amplitudes and latencies; (c) interocular polarity differences in interhemisphere potentials; and (d) chiasm coefficients (CCs). In the children with achiasmia, VEPs were related to an absence of or reduced optic-nerve-fibre decussation at the chiasm and showed: ipsilateral asymmetry, significantly higher VEP amplitudes over the ipsilateral hemisphere (p < 0.05), interocular inverse polarity and negative CC. Other VEP features (uncrossed asymmetry and positive CC) were also seen if additional visual pathway maldevelopment (such as severe optic nerve hypoplasia and/or absence of the optic tractus on one side) were associated with achiasmia. In the children with albinism, the VEPs were related to excess optic-nerve-fibre decussation at the chiasm and showed: contralateral asymmetry, significantly higher VEP amplitudes over the contralateral hemisphere (p < 0.001), interocular inverse polarity and negative CC. In achiasmia and albinism, the VEPs to flash stimulation were more robust and more clearly distinguished between the conditions compared with the VEPs to pattern onset stimulation. VEPs in achiasmia are associated with absent or reduced optic-nerve-fibre decussation, where ipsilateral interhemispheric asymmetry is associated with interocular inverse polarity and a negative CC.
Arterial ischemic stroke is an important cause of morbidity and mortality in pediatric population. A right-to-left shunt (RLS) across the patent foramen ovale was recently demonstrated as a possible risk factor for pediatric stroke. Prothrombotic disorders are frequently identified in pediatric patients with stroke. Data regarding RLS and prothrombotic disorders in pediatric patients presenting with transient ischemic attack (TIA) are lacking. The aims of the present study were (1) to compare the prevalence and grade of RLS in pediatric patients presenting with TIA vs. controls using contrast transcranial Doppler with Valsalva maneuver and (2) to identify prothrombotic disorders in pediatric patients presenting with TIA. Twenty-three consecutive pediatric patients presenting with TIA were included in the study. Logistic regression analysis showed that RLS was significantly associated with TIA (OR 4.75, 95 % CI 1.39-16.2, p = 0.013). The prevalence of RLS was significantly higher in patients in comparison to controls (p = 0.019). Significantly more microembolic signals (MES) were detected in patients than in controls (p = 0.003). Prothrombotic disorders were identified in 14 of the 23 patients. Both the prevalence of RLS and number of detected MES were significantly higher in pediatric patients presenting with TIA in comparison to controls. Prothrombotic disorders were identified in a high proportion of patients. These findings suggest that paradoxical embolism may be important in pediatric patients presenting with TIA.
Achiasmia is a rarely diagnosed visual pathway maldevelopment where all or the majority of nasal retinal fibres fail to decussate at the optic chiasm. It has been identified by neuroimaging and also by visual evoked potential (VEP) asymmetry. VEP asymmetry has not been defined consistently in previous studies. The aim was to study VEP asymmetry to flash stimulation in two children with maldevelopment of the optic chiasm in comparison to control children. Both children had congenital nystagmus, optic nerve hypoplasia with a bilateral small double ring, bitemporal visual field defect and normal colour vision. In child 1 visual acuity in both eyes was 0.1, in child 2 it was 0.2. MRI showed reduced chiasmal size in child 1, while in child 2 it was combined with other midline abnormalities. VEP to monocular flash stimulation showed in both children distinctive occipital distribution, which was not observed in control children. The N2 wave was distributed asymmetrically over the ipsilateral hemisphere to the stimulated eye, while the P2 wave was distributed over both hemispheres. The P2 wave was however better defined over the ipsilateral hemisphere. Flash VEP occipital distribution remained similar in child 1, who was followed from 10 months to 9 years. These cases of achiasmia demonstrate a distinctive VEP asymmetry in the distribution of the flash VEP N2 wave, as well as the expected structural defect determined by neuroimaging.
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