ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.

Purpose: Pharmacologic therapies for neurofibromatosis type 1-associated plexiform neurofibromas (NF1-PNs) are limited; currently, none are US Food and Drug Administration-approved for adults.

Methods: ReNeu is an open-label, multicenter, pivotal, phase IIb trial of mirdametinib in 58 adults (≥18 years of age) and 56 children (2 to 17 years of age) with NF1-PN causing significant morbidities. Patients received mirdametinib capsules or tablets for oral suspension (2 mg/m twice daily, maximum 4 mg twice daily), regardless of food intake, in 3 weeks on/1 week off 28-day cycles.

Headache As the Sole Symptom in Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS): A Case Report and Literature Review.

Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) is a rare central nervous system inflammatory condition usually presenting with a range of symptoms, including ataxia, diplopia, dysarthria, seizures, and headaches. We present a unique case of a 22-year-old woman exhibiting headache as the sole symptom. Imaging and biopsy confirmed the diagnosis, and initial steroid treatment provided relief, though it relapsed on tapering.

Pituitary Apoplexy (PA): Delayed Diagnosis of a Rare Clinical Syndrome in a Patient With a Known Pituitary Adenoma.

Pituitary apoplexy (PA) is a rare clinical syndrome in which the pituitary gland undergoes infarction or hemorrhage, predominantly in the setting of an underlying tumor. We report on apoplexy of an expanding pituitary macroadenoma that was compressing the optic chiasm in a patient with progressively worsening neurologic deficits. Due to the patient's rapidly declining clinical status and family's goals of care, no neurosurgical intervention took place, and the patient expired a few days following discharge to hospice.

Retinal Artery Occlusion in Fibromuscular Dysplasia: A Case Report.

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vasculopathy with no identifiable underlying cause. Clinical manifestations of the disease typically occur at the site of occurrence. Ocular manifestations of fibromuscular dysplasia are rare but can occur in the form of central or branched retinal artery occlusions, which can cause painless monocular vision loss.

Subacute Posterior Inferior Cerebellar Artery Stroke Radiographically Mimicking Lhermitte-Duclos Disease.

Lhermitte-Duclos disease (LDD) is a rare cerebellar lesion characterized by a hamartomatous lesion of the cerebellum. Mainly diagnosed by MRI, the clinical presentation is usually made of neurological symptoms. Modern neuroimaging techniques such as MRI have led to accurate diagnosis of this disease in both its pre- and post-operative periods.

Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.

Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. The objective of this case report is to highlight how clinical features used in conjunction with brain MRI findings can lead to an expeditious diagnosis without the need for invasive measures or genetic test results. We present the case of a three-day-old infant delivered at 34 and 4/7 weeks gestation who presented with mild respiratory distress and bilious emesis in the setting of an uncomplicated gestational course and vaginal delivery with no known teratogen exposure.

Management of Cavernous Sinus Thrombosis Following Herpes Zoster Ophthalmicus.

Herpes zoster opthalmicus (HZO) is the reactivation of latent varicella zoster virus (VZV) within the ophthalmic branch of the trigeminal ganglion (V1). Common complications are postherpetic neuralgia and vasculopathy. Here, we report a rare case of a 47-year-old female presenting with HZO and aseptic cavernous sinus thrombosis (CST).

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient.

Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features.

Cryptococcosis Presenting as Cerebrovascular Disease.

Infection plays a complex role in cerebrovascular disease and is believed to have both direct and indirect mechanisms on stroke pathogenesis. if not diagnosed and treated promptly, this may have devastating consequences. Management of infection-related strokes focuses on the treatment of the underlying infection with appropriate antimicrobial drugs and the prevention of medical complications.

Moyamoya Disease in a Young Female With Neurofibromatosis Type 1.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of the terminal portions of the internal carotid arteries (ICAs) and the development of a network of abnormal collateral vessels. This case depicts a 25-year-old African American female patient with neurofibromatosis type 1 (NF-1), whose initial hospital presentation occurred in a hypertensive emergency setting. Surveillance studies with magnetic resonance imaging (MRI) revealed multiple asymptomatic right cortical strokes.

Analysis of EEG patterns and genotypes in patients with Angelman syndrome.

We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study. Of the one-hundred-sixty enrolled patients (2006-2010), 115 had complete data (58 boys, median age 3.6 years).

Fetal deformations: a risk factor for obstetrical brachial plexus palsy?

The purpose of this report is to discuss the association of brachial plexus palsy and congenital deformations. We reviewed all charts of patients less than 1 year of age with obstetrical brachial plexus palsy evaluated by one of the authors (IA) between January 1998 and October 2005 at Miami Children's Hospital Brachial Plexus Center. Of 158 patients with obstetrical brachial plexus palsy, 7 had deformations (4.

The role of palmaris muscle tendon in mitral valve annulus reconstruction: a novel technique for mitral valve repair.

Background: Autogenous tissue for heart valve repair is limited to pericardium and fascia lata. Prosthetic annuloplasty rings have limitations and are expensive. No previous cadaveric study has documented autotransplantation of forearm tendons for mitral valve repair.

Cerebral regional oxygen fluctuations and decline during clinically silent focal electroencephalographic seizures in a neonate.

We describe a neonate with tuberous sclerosis complex and right frontal cortical dysplasia who underwent simultaneous near-infrared spectroscopy and electroencephalography (EEG) during repetitive clinically silent right frontal EEG seizures. The seizures produced a progressive decline in regional oxygen saturation index and wider regional oxygen saturation index fluctuations in the right hemisphere than in the left hemisphere. We conclude that recurrent clinically silent focal EEG seizures in this neonate were associated with lateralizing near-infrared spectroscopy changes suggestive of relative cerebral hypoxia.

Intrauterine shoulder weakness and obstetric brachial plexus palsy.

Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial plexus are overcome by the forces stretching it. This report describes an 8-day-old male delivered by uncomplicated cesarean section with right obstetrical brachial plexus palsy and congenital arm atrophy. The patient had a history of decreased right arm movement detected by fetal ultrasound at 18 to 20 weeks of gestation.

Bilateral decreased oxygenation during focal status epilepticus in a neonate with hemimegalencephaly.

Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemimegalencephaly and medically resistant seizures. We analyzed the changes in the cerebral regional oxygen saturation index in a neonate with tuberous sclerosis and right hemimegalencephaly (1) during seven episodes of right hemisphere electroencephalographic status epilepticus with and without clinical manifestations and (2) after right hemispherectomy. The cerebral regional oxygen saturation index demonstrated marked fluctuations and progressive decline in both hemispheres during the episodes and normal values in the remaining hemisphere after surgery.

Plantaris tendon graft for atrioventricular valve repair: a novel hypothetical technique.

Heart valve repair is a biomaterial-dependent procedure, yet autogenous tissue for valvular reconstruction has to date been obtained mostly from the pericardium and fascia lata. Most clinical studies recommend valve repair as an alternative to replacement. We now put forward a hypothesis, extrapolated from hand surgery, for use of the plantaris tendon in heart valve repair.