CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine-threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000-60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development. This Italian multi-center observational study focused on 34 patients with CDKL5-related epileptic encephalopathy, aiming to enhance the understanding of the clinical and molecular aspects of CDD. The study, conducted across 14 pediatric neurology tertiary care centers in Italy, covered various aspects, including phenotypic presentations, seizure types, EEG patterns, treatments, neuroimaging findings, severity of psychomotor delay, and variant-phenotype correlations. The results highlighted the heterogeneity of seizure patterns, with hypermotor-tonic-spasms sequence seizures (HTSS) noted in 17.6% of patients. The study revealed a lack of clear genotype-phenotype correlation within the cohort. The presence of HTSS or HTSS-like at onset resulted a negative prognostic factor for the presence of daily seizures at long-term follow-up in CDD patients. Despite extensive polypharmacotherapy, including medications such as valproic acid, clobazam, cannabidiol, and others, sustained seizure freedom proved elusive, affirming the inherent drug-resistant nature of CDD. The findings underscored the need for further research to explore response rates to different treatments and the potential role of non-pharmacological interventions in managing this challenging disorder.

Advanced olfactory neuroblastoma in a teenager: a clinical case and short review of literature.

BACKGROUND: Olfactory neuroblastoma, also called esthesioneuroblastoma (ONB), is a rare neuroectodermal neoplasm that originates from the olfactory epithelium of the nose-sinus tract. It generally occurs with epistaxis, nasal obstruction, diplopia, and anosmia. METHODS: A 16-year-old female was admitted to our Unit with a complaint of nasal obstruction, recurrent epistaxis, anosmia, and intermittent headache of sixth month's duration. After the ENT consultation, physical examination, endonasal endoscopy, and multiple biopsies were performed. Instrumental images (CT, MRI) have been requested to stage the aforementioned pathology. RESULTS: Instrumental images (CT, MRI) showed a mass filling the right nasal cavity and the maxillary bone and involving the cribriform plate without evidence of dural invasion. Craniofacial resection by means of a bifrontal craniotomy combined with a modified lateral rhinotomic transfacial route was performed. The reconstruction of the inferior and medial orbital walls with employing split-thickness calvarial grafts, pedicled galea-pericranium flap rotated downwards was performed. The patient received 56 Gy of external beam radiotherapy over a 6-week period. CONCLUSION: Early diagnosis and treatment coordinated by a multidisciplinary team of ENTs, neurosurgeons, oncologists, pathologists, and radiologists are a prerequisite for a good prognosis. An excellent surgical debulking, negative margins, and subsequent locoregional control of the pathology through radiotherapy is fundamental.

A Selective Mutism Arising from First Language Attrition, Successfully Treated with Paroxetine-CBT Combination Treatment

After immersion in a foreign language, speakers often have difficulty retrieving native-language words and may experience a decrease in its proficiency, this phenomenon, in the non-pathological form, is known as first language attrition. Self-perception of this low native-language proficiency and apprehension occurring when speaking is expected and, may sometimes lead these people to a state of social anxiety and, in extreme forms, can involve the withholding of speech as a primitive tool for self-protection, linking them to selective mutism. We report an unusual case of selective mutism arising from first language attrition in an Italian girl after attending a two-year "German language school", who successfully responded to a paroxetine-cognitive behavioral treatment (CBT) combination treatment.

Recurrent Hopkin's syndrome: a case report and review of the literature.

Flaccid paralysis affecting one or more limbs after an asthma attack is a poliomyelitis-like illness known as Hopkins' syndrome (HS). Although a viral infection or multifactorial immune suppression during an acute attack of bronchial asthma has been proposed to be the mechanism involved in this syndrome, the precise etiopathogenetic mechanism remains unknown. We report a 13-year-old girl who had recurrent acute episodes of myelitis after asthma attacks. She had four episodes of acute flaccid paralysis, each of which was preceded by acute asthma attacks. Some of the attacks were accompanied by sensory and sphincter disturbances. She had hyperIgEaemia and the prick test to Dermatophagoides farinae and cedar pollen was strongly positive. The present case is the first HS case demonstrating frequent recurrences and suggests a possible link between HS and atopic myelitis.