Effect of new modalities of treatment on physicians management plan for patients with spinal muscular atrophy.

OBJECTIVE: To determine physicians` attitudes and stated practice in the management of patients with spinal muscular atrophy (SMA). We also aimed to explore their knowledge about consensus statement for standard of care in SMA and the role of new treatment modalities in changing the method of practice in the management of these cases. METHODS: This is a quantitative observational cross-sectional study, conducted from February to May 2017 among physicians who manage SMA patients in Kingdom of Saudi Arabia. The study cohort included pediatric neurologists, adult neurologists, and physicians of other sub-specialties who manage SMA patients. We used online and paper-based questionnaires. RESULTS: Half of the 169 participants were aware of the consensus guidelines for the care of SMA patients. With regard to the newly released Nursinersen treatment protocol for SMA-diagnosed patients, half of the participants were uncertain, and the other half were hesitant about its outcomes. Junior physicians tended to be significantly more inclined to reverse the do-not-resuscitate (DNR) status of an SMA-diagnosed child than more senior physicians. CONCLUSION: Our results indicate the existence of wide differences in physician practice with children of SMA disease. Our data demonstrate a need for increased awareness of consensus guidelines and further awareness about the physician`s role in the variability of care for children with SMA.

Idiopathic intracranial hypertension in children: Diagnostic and management approach.

Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in children. It is characterized by raised intracranial pressure (ICP) in the absence of brain parenchymal lesion, vascular malformations, hydrocephalus, or central nervous system (CNS) infection. The diagnosis is usually confirmed by high opening pressure of cerebrospinal fluid (CSF) with exclusion of secondary causes of intracranial hypertension. If not treated properly, it may lead to severe visual dysfunction. Here we review the etiology, clinical presentation, diagnostic criteria and management of IIH in children through illustration of the clinical and radiological presentation of a 13-year-old overweight girl who presented with severe headache, diplopia and bilateral papilledema. Otherwise, she had unremarkable neurological and systemic examinations. Lumbar puncture showed a high CSF opening pressure (360-540 mmH2O). Her investigations showed normal complete blood count (CBC), normal renal, liver, and thyroid function tests. Cerebrospinal fluid (CSF) and blood chemistry were unremarkable. Magnetic resonant image (MRI) of the brain demonstrated empty sella turcica, tortuous optic nerves, and flattening of the posterior sclera. Magnetic resonant venography (MRV) showed focal narrowing of the distal transverse sinuses and absence of venous sinus thrombosis. She required treatment with acetazolamide and prednisolone. With medical treatment, weight reduction, and exercise, our patient had a remarkable improvement in her symptoms with resolution of papilledema in two months. This review highlights the importance of early recognition and management of IIH to prevent permanent visual loss.