Osteomalacia is an uncommon cause of muscle weakness [1][2][3] . However, myopathy is relatively common in osteomalacia and may be the initial feature in up to 30% of patients 4 . Vitamin D deficiency is the most common cause of osteomalacia. Vitamin D3 (cholecalciferol) is synthesized nonenzymatically in the skin from 7-dehydrocholesterol during exposure to ultraviolet rays in sunlight. Vitamin D deficiency can be caused by unusually low ABSTRACT: Background: Osteomalacia is an uncommon cause of muscle weakness. Our objectives were to describe features of myopathy associated with Vitamin D deficiency and examine the contributing factors leading to osteomalacic myopathy in our region. Methods: Patients identified retrospectively for the six year period ending in December 2006 with the diagnosis of osteomalacia and/or Vitamin D deficiency associated proximal muscle weakness were included. They were followed in three major centers in western Saudi Arabia. Clinical, biochemical, radiological, and electrophysiological findings were collected before and after Vitamin D treatment by chart review. Results: Forty seven female patients aged 13-46 years (mean 23.5, SD 4.5) were included. All were veiled and covered heavily when outside the house for social and cultural reasons. Only eight (17%) had adequate varied diet with daily milk ingestion. All patients presented with progressive proximal muscle weakness lasting 6-24 months (mean 14) prior to our evaluation. The weakness was severe in six (13%) patients leading to wheel chair bound states. Associated musculoskeletal pain involving the back, hips, or lower limbs was common (66%). Osteomalcia was the referral diagnosis in only 11 patients and the remaining 36 (77%) patients were misdiagnosed. All patients had metabolic and radiological profiles suggestive of osteomalacia. Remarkable recovery was documented in all patients following oral cholecalciferol and calcium supplementation. Conclusions: Vitamin D deficiency is an important treatable cause of osteomalacic myopathy in Saudi Arabia. The diagnosis is frequently delayed or missed. Screening for Vitamin D deficiency in patients with acquired myopathy is needed to identify this treatable disorder. Toutes ont consulté pour une faiblesse musculaire proximale progressive présente depuis 6 à 24 mois (moyenne 14 mois) au moment de notre évaluation. La faiblesse était sévère chez 6 patientes (13%), au point que ces femmes étaient confinées à un fauteuil roulant. Des douleurs musculosquelettiques au dos, aux hanches ou aux membres inférieurs étaient présentes chez 66% des patientes. Un diagnostic d'ostéomalacie avait été posé chez seulement 11 patientes au moment où elles avaient été dirigées à un spécialiste et le diagnostic était erroné chez les 36 autres patientes (77%). Toutes les patientes avaient un profil métabolique et radiologique qui suggérait ce diagnostic. Une récupération remarquable a été observée chez toutes les patientes suite à la prise d'un supplément oral de cholécalciférol et de calcium. Conclusions : Un d...

Cardiac myxoma is the most common primary tumor of the heart, located mainly in the left atrium. Cerebral embolization or intracranial aneurysm formation as a consequence of left atrial myxomas has been well documented, whereas myxoma embolization causing the combination of cerebral infarction and intracranial myxomatous aneurysm is rare. We report herein, a 67-year-old female with a cardiac myxoma who experienced a left hemispheric embolic ischemic stroke and in addition was found to have right internal carotid artery aneurysm. The patient underwent emergency surgical excision of left atrial myxoma 2 hours after the stroke onset and endovascular coiling of the aneurysm a week later. Although the timing of cardiac surgery is controversial in patients who have had recent ischemic stroke, we recommend immediate resection of cardiac myxoma, if feasible, and early endovascular treatment of associated intracranial myxomatous aneurysms.

Highlights Endolymphatic Sac tumors are very rare type of tumor reported in practice of Neurosurgery or ENT. This tumor may present in sporadic fashion or as a part of Von Hippel Lindau disease. In this case report Endolymphatic Sac Tumor of sporadic type is presented at the cerebellopontine angle in the posterior fossa of the skull. It was managed in our facility with multidisciplinary approach. The clinical presentation, investigations and management of the patient are discussed in details and a brief review of the literature has been performed.

Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene . We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain. sequencing identified a novel missense mutation. The younger brother was identified in presymptomatic phase on family screening. Chelation therapy with disodium calcium edetate (ethylenediaminetetraacetic acid, EDTA) led to stabilization of gait, reduction in Mn levels, and resolution of polycythemia. We wish to highlight the atypical neurologic presentation, a novel missense mutation, and beneficial effect of EDTA in this rare disease.

It occurs in one of three distinct types; 1) postinfectious or autoimmune encephalomyelitis, which presents as a sudden recurrence of fever with an altered level of consciousness, seizure activity, and multifocal neurological signs, 2) subacute measles encephalitis (SME; also called subacute inclusion body encephalopathy and progressive infections measles encephalitis) occurring in immunosuppressed patients 1-10 months after measles infection, and 3) subacute sclerosing panencephalitis (SSPE), which presents after six or more years from an acute measles infection with the onset of neurological dysfunction ABSTRACT: Background: Subacute sclerosing panencephalitis (SSPE) is a rare complication of measles virus infection. The disease is characterized by behavioural abnormalities, intellectual deterioration, motor weakness, and generalized myoclonic jerks progressing to coma and death in one to two years in 80% of the cases. The myoclonic jerks are associated with characteristic generalized slow periodic complexes on electroencephalography (EEG). The symptoms and signs of SSPE are frequently quite variable. The clinical course is equally variable and difficult to predict. The characteristic periodic myoclonus can rarely occur unilaterally particularly in the early stages of the disease. As well, the periodic EEG complexes have been reported unilaterally in up to 3% of cases. Case Report: A 12-year-old boy, who was seen at a later stage with atypical manifestation of myoclonic body jerks confined entirely unilaterally, combined with contralateral periodic EEG complexes. One could assume clinically that the more diseased hemisphere was responsible for generating the jerks. However, brain magnetic resonance imaging revealed asymmetric hemispheric changes suggesting that the less neurologically damaged hemisphere is responsible for generating the unilateral myoclonic jerks. This has led to the interpretation that the more severely damaged hemisphere has lost the neuronal connectivity required to generate these periodic myoclonic jerks. Conclusions: Subacute sclerosing panencephalitis may have asymmetric hemispheric involvement, not only early, but also in the advanced stages of the disease, which can result in unilateral periodic myoclonic jerks.