Descending Cephalic to Epigastric Sensation in a Patient with Mesial Temporal Lobe Epilepsy: A Novel Observation

One of the most frequent type of auras in mesial temporal lobe epilepsy (MTLE) is epigastric sensation. Until now the site of the symptomatogenic zone of the epigastric aura remains controversial. The temporal lobe as well as insular cortex has been implicated. Our case is that of a 29-year-old young woman who presented with an aura of descending cephalic to epigastric sensation as opposed to the prototypical ascending aura. Interictal and ictal recording favored a mesial temporal pattern. Magnetic resonance imaging brain showed left mesial temporal lobe sclerosis. Interictal positron emission tomography showed concordant findings. The patient underwent selective amygdalohippocampectomy following which she remains seizure-free. This previously unreported clinical expression of MTLE and its origins is discussed.

Impact of the COVID-19 Lockdown on Ophthalmological Assistance in the Emergency Department at a Spanish Primary Level Hospital

Purpose. To analyze the changes in ophthalmological emergencies during the COVID-19 pandemic lockdown at a Spanish primary level hospital. Methods. The number and type of emergencies attended in the emergency department of Hospital Universitario del Henares between March 10 and August 31, 2020 (COVID-19 cohort) were compared with the emergencies attended during the same period of 2019 (pre-COVID-19 cohort). Data on the diagnosis, patient age, and gender was retrospectively collected from the electronic medical records of the hospital. The different diagnoses were organized into “clusters,” which include those conditions that affect the same ocular tissue and that have similar clinical expression. Results. The number of ophthalmological emergencies during the study period was 841, compared to 1343 during the same month of 2019, which represents a reduction of 37.4%. The percentage reduction in each cluster was as follows: conjunctiva (−65.4%), cornea (−35.8%), uveitis (−3.6%), eyelid and orbital and lacrimal (−35.5%), strabismus (−60%), neuro-ophthalmology (−11.8%), retina (−10.6%), cataract (+16.4%), glaucoma (−37%), and miscellaneous (−45.1%). The number of people seen with viral conjunctivitis decreased by −87.1% compared to 2019. Patients with complications due to conjunctivitis also decreased: patients with pseudomembranes dropped from 16 to 4 cases and patients with corneal subepithelial infiltrates from 9 to 3 cases. Conclusions. Most diagnostic clusters showed a similar decrease. Clusters that included vision-threating conditions (retina, neuro-ophthalmology, and uveitis) remained mostly stable. During the COVID-19 lockdown, the diagnosis of adenoviral conjunctivitis decreased nearly 10 times. This fact may represent a decrease in the transmission of these infections.

Clinical Situations in Which the Diagnosis of Autism is Debatable: An Analysis and Recommendations

The “autism spectrum disorder” (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations.

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the FLNA-dependent actin dynamics and regulation of vesicle formation and trafficking by activation of ADP-ribosylation factors (ARFs) can play an important role in this cortical malformation. We report the first inherited variant of ARF1 in a girl with intellectual disability and periventricular nodular heterotopia who inherited the variant from the father with previously undiagnosed single nodular heterotopia and mild clinical expression. Additionally, both patients presented some features suggestive of hypohidrotic ectodermal dysplasia. These clinical features showed similarities to those of three previously reported cases with ARF1 missense variants, confirming that haploinsufficiency of this gene causes a recognisable neurological disorder with abnormal neuronal migration and variable clinical expressivity.

Axis fracture due to giant cranial AVM

ABSTRACT Cerebral arteriovenous malformations (AVMs) are a vascular anomaly consisting of a bundle of direct connection of arteries and veins. AVMs clinical expression ranges from complete asymptomatic, and thus incidentally found, to life threatening with rupturing and bleeding. In this wide spectrum, osteolysis is considered as a rare complication of interosseous AVMs, and only few cases of mandible and maxilla osteolysis have been reported. We present, herein, a case of an intracranial AVM, which has caused in the course of the time an osteolysis of the dens and axis.

Is the Severity of the Clinical Expression of Anorexia Nervosa Influenced by an Anxiety, Depressive, or Obsessive-Compulsive Comorbidity Over a Lifetime?

Purpose: The relationship between anxiety or depressive comorbidities, their chronology of onset, and the severity of anorexia nervosa (AN) is not well-studied. We hypothesize that the existence of a comorbidity, particularly before the onset of AN, is associated with greater severity of AN.Methods: One hundred seventy-seven subjects were assessed. The prevalence of major depressive disorder (MDD), obsessive-compulsive disorder (OCD), generalized anxiety disorder (GAD), and social phobia (SP) as well as their chronology of onset were studied. The assessment criteria of AN severity were the overall clinical condition, body mass index (BMI) on admission, lowest BMI, intensity of the eating symptoms, age at the onset of AN, illness duration, number of hospitalizations, and quality of life.Results: Patients with AN had the greatest clinical severity when they had a comorbid disorder over their lifetime, such as MDD, GAD, or SP. These comorbidities along with OCD were associated with a higher level of eating symptoms and a more altered quality of life. A profile of maximum severity was associated with a higher prevalence of MDD and GAD. Concerning the chronology of onset, the age at the start of AN was later in cases of MDD or GAD prior to AN.Conclusion: There seems to be an association between severity of AN and both MDD and GAD. The chronology of onset of the comorbidity did not seem to be associated with the severity.