Nystagmus in Infantile Pompe Disease: a new feature?

We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum en- zyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory results, acid α-glucosidase activity was determined from dried blood spots resulting lower than the normal range (0.2 mmol/L/h: normal reference range: 1,86-21,9 mmol/L/h) and leading to a diagnosis of infantile Pompe dis- ease. She also showed multi-directional nystagmus. Refractive errors, ptosis and strabismus are described in infantile Pompe Disease, while nystagmus is rarely reported before. Therefore with this paper we highlight an atypical ocular symptom, whose uncertain pathogenesis, to be taken into consideration, because by now, with increasing survival with ERT, new phenotypes of Pompe disease are taking shap

Psychiatric Emergency in Children and Adolescents: A Retrospective Study in Parma Local Health Unit

The mental health care system in Italy is based on Law 180/70 which leaves great regional autonomy about the management of adolescent patients suffering from psychiatric diseases. The aim of this study is the evaluation of demographic, social, and clinical features of minors admitted to psychiatric wards, as starting point to improve individualized services for them. Data about all under 18s consecutively admitted to Parma’s psychiatric wards from 2013 to 2015 were retrospectively collected from medical records. Diagnoses were classified according to ICD-10 criteria, and statistical analysis was performed using SPSS statistical software (IBM SPSS Statistics 22.0) for Windows. Clinical samples include 51 cases, 30 males (mean age: 15.5 years, ranging from 12 to 17 years) and 21 females (mean age: 15.9, ranging from 14 to 17 years). The most frequent diagnosis is conduct disorder (39.2%), with higher prevalence among males. Following this, 23.5% of the patients present comorbidity issues and 9.8% suffer from personality disorders, which is more frequent among females. High percentages of foreigners (31.4%), adopted minors (15.7%), and drug users (40%) are reported. Furthermore, data reveal that unprotective family environment, registered in 80.4% of cases, plays an important role as risk factor for the development of mental disease, readmissions in psychiatric wards, and discharge to residential facilities. Readmissions, as well as compulsory treatments (11 cases), are mainly required in case of conduct disorders and comorbidity diagnosis. Lastly, in contrast with the situation before hospital admission, most patients (63.3%) are discharged and sent to community residential facilities. Findings can be useful to improve the management of psychiatric emergencies in minors, focusing on their specific needs, such as conduct disorders and substance abuse, and to face emerging challenges, for example, mental health disease associated with the growing phenomenon of immigration

Atypical presentation of juvenile multiple sclerosis in a patient with COVID-19

Purpose: To report our experience with a case of a very atypical clinical onset of multiple sclerosis in a young boy during a COVID-19 infection. Case report: A 16-year-old boy was referred to our ophthalmology clinic with a complete isolated bilateral horizontal gaze palsy. The condition had onset suddenly 2 weeks prior and he had no associated symptoms, as well as no significant medical history. His corrected visual acuity was 0.0 logMAR in both eyes. While hospitalized, he was found infected with COVID-19. Subsequent brain MRI showed multiple lesions typical of a yet undiagnosed MS, as well as an active pontine plaque which was highly probable the cause of the horizontal gaze palsy. High-dose steroid treatment was initiated 1 week later, after the patient exhibited negative COVID-19 test results. Conclusion: Clinical manifestations of MS are rarely seen in male teenagers and only a few cases of isolated bilateral horizontal gaze palsy have been reported as the initial manifestation, but never during concomitant COVID-19 infection. We presume that the presence of COVID-19 may have been a neuroinflammatory trigger of underlying MS

Herpes zoster preceding neuromyelitis optica spectrum disorder: casual or causal relationship? A systematic literature review

: Neuromyelitis optica spectrum disorder (NMOSD) is a severe, inflammatory, immune-mediated astrocytopathy of the central nervous system, characterized by recurrent inflammatory events primarily involving optic nerves and the spinal cord. Recently, a triggering role of infectious events in the development of NMOSD has been suggested. Varicella zoster virus (VZV) is the agent most involved, although the linkage with anti-aquaporin-4 antibodies is so far unknown. A review of the literature on the association between NMOSD and VZV infection was carried out by searching PUBMED and EMBASE from 1975 to July 2020. A total of 13 articles concerning Herpes zoster preceding NMOSD were identified. All patients were female and the median age at NMOSD presentation was 28.5 (range 5-63) years. Four NMOSD cases occurred after chicken pox while the remaining ten after HZ. Full recovery occurred in 5/14 patients. From the review of the literature, we can infer that VZV seems to trigger LETM attacks and not the disease itself. The strict temporal relationship between VZV infection and NMOSD seems to exceed the pure chance and represents an unusual clinical scenario posing several diagnostic and management challenges

Hereditary Hemorrhagic Telangiectasia presenting as migraine: A case report

Background: Hemorrhagic Hereditary Telangiectasia (HHT) is an autosomal dominant disease characterized by the presence of multiple arteriovenous malformations (AVMs). Migraine is described in association with HHT in adulthood, while only few paediatric cases are reported in the literature. Aim: In this paper, we describe an atypical case of HHT in a 7-year-old boy, who presented severe and recurrent episodes of migraine-like headache as the first symptom of the disease. Methods: The patient was accurately investigated both clinically (general, neurological and dermatological examinations), instrumentally (electroencephalogram, brain magnetic resonance, transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography) and genetically. Results: Familial history was positive for HHT in the paternal line. Both general and neurological examination were normal. Brain magnetic resonance imaging showed a minor old infarct in the right parietal and occipital lobes. Transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography revealed a pulmonary AVM. Cephalalgia resolved after transcatheter embolotherapy. A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT. Conclusions: Although headache is rarely reported in children as the first symptom of HHT, we warn clinicians on this possible link, as a promptly diagnosis is advisable in order to prevent potential complications

Neuromyelitis Optica Spectrum Disorder Attack Triggered by Herpes Zoster Infection

Neuromyelitis optica spectrum disorder is a severe autoimmune disease of the central nervous system characterized by recurrent inflammatory events primarily involving the optic nerves and spinal cord. Recently, a triggering role of infectious events in the development of NMOSD has been suggested. Varicella zoster virus is the most common viral infection involved, though the linkage with anti-aquaporin-4 antibodies is so far unknown. We report, to the best of our knowledge, the first pediatric case report about NMOSD relapse triggered by herpes zoster infection. The strict temporal relationship between VZV infection and NMO attacks seems to be more than simply due to chance; however, further reports are needed to be confirmed

Incidence of Epilepsy after Neonatal Seizures: A Population-Based Study

Background: The incidence of childhood and adolescence epilepsy varies in different areas and over time. Published reports in the Italian pediatric population are few and there is no information on the incidence of epilepsy using the new clinical definition of the disease signed by the International League Against Epilepsy. An increased risk of epilepsy is reported in subjects who presented with neonatal seizures (NS), but few population-based studies are available that compare incidence and age at onset of epilepsy in children with and without NS. Objectives: Ascertain the incidence of epilepsy in children in the province of Parma by applying the new practical clinical definition of epilepsy, and compare incidence and age of epilepsy onset in children with and without previous NS. Methods: The study was carried out in the province of Parma, Emilia-Romagna Region, Northern Italy, using different data sources (clinical records and administrative data), and considered all the children born in the province of Parma between January 2002 and December 2014 and developing epilepsy by December 2016. We calculated the incidence of epilepsy in patients up to 14 years of age, incidence of epilepsy after NS and cumulative incidence of epilepsy at 1, 5, and 10 years' follow-up. To evaluate age at onset of epilepsy, we divided patients into 3 groups (epilepsy onset within 1 month, between 1 and 12 months, and after 1 year of life) and we compared age at onset of epilepsy between patients who had had previous NS and those who had not. Results: The incidence of epilepsy was 78.6/100,000 persons-years (boys 88.1/100,000, girls 68.6/100,000). The incidence of epilepsy after NS was 15.2% (8.2% for male, 23.5% for female; 16.3% in born at term, 14.3% in pre-term). The incidence of epilepsy at 1, 5, and 10 years' follow-up was higher in patients with previous NS than in others. The age at onset of epilepsy was significantly different in the 2 groups, and was younger in those with history of NS: mean age at onset was 10.5 months in those with NS and of 61.8 months in the others. Conclusions: The incidence rate of epilepsy in the Parma district was higher than that reported in other Italian areas studied, probably due to the different methodology used and the application of the most recent definition of epilepsy. Children with NS were at higher risk of epilepsy and develop the disease at a younger age