Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00-20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0-21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

Neonatal seizures: Etiologies, clinical characteristics, and radiological features: A cross-sectional study.

Seizures are a common clinical indication of central nervous system damage or abnormality in neonates. We aimed to identify the etiologies, clinical characteristics, and radiological features of neonatal seizures. This is a cross-sectional, retrospective, descriptive study using data obtained from the neonatal intensive care unit in King Abdulaziz Medical City (KAMC), a governmental, academic tertiary hospital in Riyadh, Saudi Arabia. The population of interest were neonates diagnosed with a neonatal seizure at KAMC between April 2015 and March 2019. A total of 61 patients with neonatal seizures were included in the study. The most common etiology was hypoxic-ischemic encephalopathy (43%). A total of 32 patients were full-term (52.5%). Around one-fifth of the study sample (21.3%) had a family history of neonatal seizures. Around 43.0% of the patients had epilepsy episodes. More than half of the patients (57.0%) were on one anti-seizure medication. Patients were followed up after 1 year, they had multiple comorbidities, including developmental delay, epilepsy, and cerebral palsy. Developmental delay was identified in 62.3% of the patients. A total of 19 patients have passed away (31%). Neonatal seizures are a common manifestation of neurologic disorders in neonates and are associated with high morbidity and mortality. Therefore, early identification of seizure etiology and proper management may help to improve the outcome.

Perspectives of the Key Stakeholders of the Alignment and Integration of the SaudiMEDs Framework into the Saudi Medical Licensure Examination: A Qualitative Study.

PURPOSE: The purpose of the Saudi Medical Education Directives Framework (SaudiMEDs) is to assure the essential level of competencies for medical graduates, which should be reflected in the Saudi Medical Licensure Examination (SMLE). This study explored the opinions of key stakeholders of the alignment and integration of the SMLE's blueprint and contents with the SaudiMEDs competency framework's themes and domains. PARTICIPANTS AND METHODS: This was a qualitative case study, using a purposive sampling technique. Ten participants participated in the study representing the main stakeholders. The participants were four deans, an assistant dean, two residents, and three interns of various colleges of medicine (COM). In-depth interviews were conducted through a semi-structured format, either online or in-person. The interviews were recorded, transcribed verbatim and analyzed according to the general guidelines of qualitative content analysis. RESULTS: Four major themes emerged from the data, including the current alignment practices of the COM, competencies enhanced through preparing according to the SMLE, the SaudiMEDs representation in the SMLE, and finally a roadmap to achieve optimum alignment between the SaudiMEDs and the SMLE. CONCLUSION: The participants were knowledgeable about the SaudiMEDs and perceived the SMLE blueprint and contents to be partially aligned with the themes and domains of the SaudiMEDs competency framework. The responses suggested that additional effort is required to improve the current alignment to assess the competencies of COM graduates appropriately.

The comorbidity of headaches in pediatric epilepsy patients: How common and what types?

OBJECTIVE: To estimate the prevalence and characteristics of headache in pediatric epileptic patients. METHODS: This cross-sectional study was performed over 6 months period from January 2018 to June 2018 at King Abdullah Specialist Children Hospital, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia using a structured questionnaire in pediatric patients with epilepsy. RESULTS: There were 142 patients enrolled (males, 57.7%; average age, 10.7+/-3.1 years) with idiopathic epilepsy (n=115, 81%) or symptomatic epilepsy (n=27, 19%). Additionally, patients had focal epilepsy (n=102, 72%) or generalized epilepsy (n=40, 28%), and among them, 11 had absence epilepsy. Overall, 65 (45.7%) patients had headaches compared with 3/153 (2%) in the control group (p<0.0001). Among the 65 patients with headaches, 29 (44.6%) had migraine-type, 12 (18.4%) had tension-type, and 24 (36.9%) had unclassified headache. There was no significant difference in age, gender, type of epilepsy syndrome, and antiepileptic used except in patients with or without headache. For migraine patients, there was a lower headache prevalence in the subgroup treated with valproic acid compared with other treatments. CONCLUSION: Headache, predominantly migraine, is a common problem in pediatric epileptic patients and choosing valproic acid when possible can be important in preventing migraine in these patients.

Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia. Tertiary Center Experience.

OBJECTIVE: To evaluate the clinical presenation of acute disseminated Encephalomyelitis (ADEM) in pediatric age group, treatments, and to asses the outcome at King Abdulaziz Medical City, Riyadh, Kingdom of Saudia Arabia. METHODS: The medical records of all patients younger than 18 years of age with a diagnosis of ADEM and treated at King Abdulaziz Medical City from January 1996 to Decemeber 2016 were collected. A total of 20 patients were included. RESULTS: Of 20 patients enrolled in our study, 13 (65%) were female. Autumn and summer were the most common seasons in which ADEM presented (60%); 19 (95%) patients had a history of preceding viral illnesses. The most common neurological deficits on presentation were weakness (85%), ataxia (45%), and nystagmus (45%). Cortical and subcortical lesions (60%) were the most common finding on cranial magnetic resonance imaging. Seventeen patients (85%) received steroid only. Only 16 patients continued with follow-up, with a mean duration of 7 months. All 16 patients improved: 11 patients were recovered and 5 patients still had a neurological deficit at the clinic visits. No patient had relapsed. CONCLUSION: Most of the patients in this case series have an excellent outcome and attended follow-up visits and no disease relapses were identified. Further exploration of the disease is recommended.

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients. Both patients had the same missense mutation in PRUNE1 (c.383G>A, p.Arg128Gln), which was not reported before in a homozygous state. We compared our patients to previously reported cases. In conclusion, We suggest that clinicians consider PRUNE syndrome in any child presenting with dysmorphic features, developmental delay, progressive microcephaly, central hypotonia, peripheral spasticity, delayed myelination, brain atrophy, and a thin corpus callosum.