Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare autosomal recessive, X-linked, genetic disorder that involves a triad of follicular ichthyosis, atrichia of the scalp, and photophobia. We report a case of an 8-year-old boy with alopecia of the scalp, eyebrows, and eyelashes, which occurred in his first year of age. His birth was uneventful, and his developmental milestones were normal. The alopecia was non-scarring and was accompanied by mild generalized xerosis, photophobia, and recurrent angular cheilitis. Moreover, numerous non-inflammatory, follicular, keratotic tiny papules were noticed. His deciduous teeth had retention with gum hyperplasia, and his feet showed symmetrical plantar keratoderma and nail dystrophy of the right big toe. The genetic testing confirmed an X-linked recessive inheritance of IFAP syndrome without BRESHECK syndrome due to the mutation in the MBTPS2 (300294) gene located on chromosome Xp22.12. The patient was given symptomatic treatment with urea cream for plantar keratoderma and was advised to apply constant moisturizers to avoid generalized xerosis. Dermatological and ophthalmological follow-ups were recommended. This is the first case reported from Saudi Arabia. This case report throws light on the characteristics of IFAP syndrome and denotes the points of differentiation from similar conditions.

Deep brain stimulation in children and youth: perspectives of patients and caregivers gleaned through Twitter.

OBJECTIVE: This study aims to glean patient and caregiver perspectives surrounding deep brain stimulation (DBS) in children and youth through an analysis of patterns of social media usage. METHODS: The authors performed a comprehensive search of the Twitter Application Programming Interface (API) database for all tweets about DBS use in children and youth, with no date restriction. Data pertaining to each tweet were extracted for analysis. Results were analyzed using qualitative and quantitative methodologies. These included thematic analysis of tweets, accounts, and descriptive statistics. Sentiment analysis of extracted tweets was also performed. A multivariable regression model was used to identify predictors of higher engagement metrics (likes, retweets, and quotes). RESULTS: A comprehensive search of the Twitter database yielded 877 tweets from 816 unique accounts meeting study inclusion criteria. Most tweets were from patients or caregivers, researchers, or news media outlets. The most common themes among analyzed tweets were research discussing novel findings (45.2%) or personal experiences of patients or caregivers (27.4%). Sentiment analysis showed that 54.5% of tweets were positive, 35.1% were neutral, and 10.4% were negative. The presence of pictures or videos increased the tweet engagement count by an average of 10.5 (95% CI 7.3-13.6). Tweets about personal patient experiences (ß = 6, 95% CI 0.95-12) and tweets tagging other accounts (ß = 3.2, 95% CI 0.63-5.8) were also significantly associated with higher engagement metrics. CONCLUSIONS: The current study is the first to assess patient and caregiver perspectives surrounding pediatric DBS through a comprehensive analysis of social media usage. Given the nascent field, social media presents an opportunity to share experiences and promote patient and healthcare professional education surrounding pediatric DBS.

Thalamic Tumors in a Pediatric Population: Surgical Outcomes and Utilization of High-Definition Fiber Tractography and the Fiber Tracking Technique.

OBJECTIVE: This study aimed to assess the operability of thalamic tumors since they are generally considered to be inoperable and to have poor outcomes. Advancements in neuroimaging, neuronavigational technology, and intraoperative neurophysiological monitoring allow accurate planning and safe resection. METHODS: Clinical data and reports of 10 pediatric patients with thalamic tumors were retrieved retrospectively. All 10 patients underwent surgical intervention. Diffusion tensor tractography (DTI) was used preoperatively to select the safest surgical route. Intraoperative MRI and postoperative MRI were used to evaluate the extent of resection. RESULTS: There were three gross total resections (GTRs), two subtotal resections (STRs), two partial resections (PRs), and three biopsies. All patients had unilateral thalamic tumors. Different surgical approaches were used according to the relationship with the internal capsule and corticospinal tract and according to the preoperative DTI. Five patients had pilocytic astrocytoma, two had diffuse pediatric-type high-grade glioma, one had ganglioglioma, one had pediatric-type diffuse low-grade glioma, and one had atypical teratoid rhabdoid tumor (ATRT). The outcomes of low-grade tumors were favorable, especially for those who underwent resection, and those of high-grade tumors were poor regardless of the extent of resection. CONCLUSION: Our review shows that surgical resection of thalamic tumors can be done safely and offers favorable outcomes for patients with low-grade tumors, even without adjuvant therapy. Our study provides further evidence for thalamic tumors operability and safe resection.

Fetal Ventriculomegaly: A Review of Literature.

Fetal ventriculomegaly refers to ventricular enlargement that is diagnosed prenatally. It is one of the most common fetal anomalies. The diagnosis is made by ultrasound when the arterial diameter of the ventricle is more than 10 mm. Once it is diagnosed, further evaluation by detailed ultrasound, fetal MRI, and genetic studies is required. Prenatal surgical management of fetal ventriculomegaly is still limited and associated with high risks. Postnatal management is similar to the treatment of other types of hydrocephalus. Fetal ventriculomegaly is a heterogeneous condition with various etiologies and a wide spectrum of neurodevelopmental outcomes. The outcomes depend mainly on the severity of ventriculomegaly and associated structural abnormalities. This article aims to review the literature about various aspects of fetal ventriculomegaly.

Spheno-orbital juvenile psammomatoid ossifying fibroma: a case report and literature review.

Ossifying fibroma (OF) is an uncommon benign fibro-osseous lesion. Based on its clinical, morphological, and radiological features, OF is further divided into cemento-ossifying fibroma (COF), juvenile psammomatoid ossifying fibroma (JPOF), and juvenile trabecular ossifying fibroma (JTOF). JPOF rarely involves the cranial base, with limited reports published on spheno-orbital JPOF. In this paper, we report a case of JPOF of the greater wing of the sphenoid bone and lateral orbital wall in an 11-year-old child and show a surgical video. Although rare, JPOF should be considered in the differential diagnosis of fibro-osseous lesions of the spheno-orbital region.

Chiari I malformation with neurogenic hypertension after suboccipital decompression.

Patients with Chiari I malformations have a spectrum of symptoms related to craniocervical structural compression. Neurogenic hypertension has been reported in some patients with this disorder, with resolution of hypertension after suboccipital decompressions in some cases. The pathophysiology of neurogenic hypertension in these patients is thought to be related to ventrolateral medullary compression. The important role of the ventrolateral medulla in blood pressure control has been studied extensively. In this report, we present the case of a pediatric patient diagnosed with a Chiari I malformation who developed hypertension after a suboccipital decompression. We believe that this case demonstrates the important role of the ventrolateral medulla in neurogenic hypertension.

Preoperative trans-arterial embolization of a giant scalp congenital hemangioma associated with cardiac failure in a premature newborn.

Scalp congenital hemangiomas are a rare, but well-known, vascular malformation in infants. These hemangiomas are usually benign, but occasionally these are associated with cardiac complications and disfigurement. Giant hemangiomas that are associated with high-output heart failure require intervention because they have a high mortality rate and do not respond to medical therapy. We report here a case of a premature newborn who was diagnosed with a giant scalp hemangioma associated with cardiac failure. The newborn underwent successful arterial feeder embolization of the superficial temporal artery. He then underwent surgical excision 14 days after embolization. We believe that preoperative embolization of a giant scalp hemangioma in newborns is a safe measure for alleviating underlying cardiac failure and minimizing the risk of intraoperative bleeding.

Minimally Invasive Syringe Brain Port for Deep-Seated Lesions: How to Make the System and Surgical Video.

Brain retraction is crucial for adequate exposure during many intracranial procedures. It facilitates the access to the area of interest inside the brain and gives the surgeon the ability to create a corridor to visualize the deeply seated lesions. Retraction-related injury is a well-known complication. A minimally invasive retraction system has been invented and modified to improve the downside of retraction and overcome the complications. The syringe brain port system is a transtubular system composed of simple tools that are available in all medical facilities. It can help the neurosurgeons to achieve brain retraction in a safe, simple, and cost-effective technique. We are presenting a video of how to make this system. Also, we are demonstrating an intraoperative application of this system in a case of a 36-year-old male with deep-seated recurrent right frontal glioblastoma multiforme grade IV.