Efterpi Pavlidou
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View article: Impact of the COVID-19 Pandemic on Children with ASD and ADHD in Northern Greece: A Pilot Study
Impact of the COVID-19 Pandemic on Children with ASD and ADHD in Northern Greece: A Pilot Study Open
Background/Objectives: The COVID-19 pandemic profoundly disrupted the daily lives of children with neurodevelopmental disorders, particularly Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). Lockdowns, th…
View article: An International <scp><i>ASXL3</i></scp> Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations
An International <span><i>ASXL3</i></span> Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations Open
Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal …
View article: Novel familial <i>KDF1</i> mutation detected in members of a three‑generation family with clinical manifestations of ectodermal dysplasia: A report of four cases
Novel familial <i>KDF1</i> mutation detected in members of a three‑generation family with clinical manifestations of ectodermal dysplasia: A report of four cases Open
Ectodermal dysplasia (ED) syndromes are a heterogeneous group of disorders characterized by defects in two or more ectodermal structures. At least one of the structures must involve the hair, teeth, nails, or sweat glands. ED-12 is a rare …
View article: Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations—A Systematic Review
Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations—A Systematic Review Open
Background: This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is character…
View article: Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide
Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide Open
Background: A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficie…
View article: An asymptomatic male individual carrying a 5.72 Mb <i>de novo</i> deletion in 8p23.2‑p23.3: A case report
An asymptomatic male individual carrying a 5.72 Mb <i>de novo</i> deletion in 8p23.2‑p23.3: A case report Open
Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor…
View article: Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing
Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing Open
View article: Wiedemann‑Steiner syndrome in a 2‑year‑old patient due to a rare nonsense <i>KMT2A</i> mutation of <i>de</i> <i>novo</i> origin: A case report
Wiedemann‑Steiner syndrome in a 2‑year‑old patient due to a rare nonsense <i>KMT2A</i> mutation of <i>de</i> <i>novo</i> origin: A case report Open
Wiedemann‑Steiner syndrome (WSS) is a genetic disorder characterized by a wide range of clinical symptoms, including developmental delay, intellectual disability, characteristic facial features, and other clinical features. It is part of g…
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: Large Cyst of Skene Gland: A Rare Perineum Mass
Large Cyst of Skene Gland: A Rare Perineum Mass Open
Objective In this report we present a rare case of a large cyst of Skene gland in a female patient with a palpable vaginal mass persisting for at least 2 years. Case Report A 67-year-old female admitted to the department of urology due to …
View article: Epilepsy and Diagnostic Dilemmas: The Role of Language and Speech-Related Seizures
Epilepsy and Diagnostic Dilemmas: The Role of Language and Speech-Related Seizures Open
Although the impact of epilepsy on expressive language is heavily discussed, researched, and scientifically grounded, a limited volume of research points in the opposite direction. What about the causal relationship between disorder-relate…
View article: Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search
Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search Open
View article: Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees
Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees Open
Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygou…
View article: Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition
Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition Open
We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chem…
View article: Postherpes simplex encephalitis: a case series of viral-triggered autoimmunity, synaptic autoantibodies and response to therapy
Postherpes simplex encephalitis: a case series of viral-triggered autoimmunity, synaptic autoantibodies and response to therapy Open
Background: Recent evidence suggests that patients with herpes simplex virus (HSV) encephalitis may relapse because of autoimmunity against the N-methyl-D-aspartate receptor (NMDAR). We present a case series of post-HSV relapsing encephalo…
View article: Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation
Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation Open
View article: Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update
Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update Open
Posterior reversible encephalopathy syndrome (PRES) is a rare clinical-radiological entity characterised by seizures, severe headache, mental status instability and visual disturbances. Hypertension is typically present. We report a case o…
View article: Metaphyseal dysplasia associated with chronic facial nerve palsy
Metaphyseal dysplasia associated with chronic facial nerve palsy Open
View article: Vaccination and neurological disorders
Vaccination and neurological disorders Open
Active immunization of children has been proven very effective in elimination of life threatening complications of many infectious diseases in developed countries. However, as vaccination-preventable infectious diseases and their complicat…
View article: Lumbar puncture complicated by spinal epidural hematoma in a child with leukemia
Lumbar puncture complicated by spinal epidural hematoma in a child with leukemia Open
Key Clinical Message We report a case of spinal epidural hematoma ( SEH ) preceded by diagnostic lumbar puncture ( LP ) in a 5‐year‐old boy with acute lymphoblastic leukemia. MRI confirmed the presence of SEH between T7 and L5 levels, but …
View article: Bilateral eyelid ptosis, attributed to vincristine, treated successfully with pyridoxine and thiamine in a child with acute lymphoblastic leukemia
Bilateral eyelid ptosis, attributed to vincristine, treated successfully with pyridoxine and thiamine in a child with acute lymphoblastic leukemia Open
Vincristine-induced neurotoxicity is an adverse effect commonly seen in pediatric patients treated for cancer. We hereby present a case of a 6-year-old boy with acute lymphoblastic leukemia, who developed bilateral eyelid ptosis 25 days af…