aortic valve insufficiency/seizures

In this case report, a 28-year-old woman known with slight aortic regurgitation presented with partial complex epileptic seizures. On examination, livedo reticularis was noted, and cerebral MRI scans showed signs of clinical silent old lacunar infarctions. She was persistently triple positive for

BACKGROUND Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos

BACKGROUND X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant condition where most affected patients are female and present with seizures. Extra-cerebral features such as cardiac abnormalities

A 33-year-old female patient, with a 4-year history of hypertension plus a 3-year history of systemic lupus erythematosus, who had been taking high dosages of corticosteroids, has shown repetitive respiratory infections and congestive heart failure for the past 8 months. Angiocardiography confirmed

We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 15-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic

UNASSIGNED Excess dilatation of the left atrium >65 mm is known in the literature as gigantic atrium. This dilation is most commonly encountered in the mitral insufficiency of rheumatic etiology, but also in severe prolapses of the mitral valve, permanent atrial fibrillation, and at the left right

Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral

Recent important technical developments in the field of surgery for congenital heart disease have included the Ross pulmonary autograft replacement of the aortic valve, video-assisted thoracoscopic surgery, and the double-switch and switch-Rastelli procedure for congenitally corrected transposition.

BACKGROUND Lupus anticoagulant (LA) is commonly present in patients with systemic lupus erythematosus (SLE) who present with an ischemic cerebral stroke. Reports have noted the presence of LA in patients with epilepsy who do not have SLE. These patients are usually elderly, and it has been

We report a 46-year-old man with bacterial endocarditis and cardiac failure, who developed status epileptics. The patient was apparently well until July of 1991 when there was a gradual onset of fever and general fatigue. He was hospitalized to the cardiology service of our hospital where diagnosis

Congenital hyperinsulinemic hypoglycemia is the most frequent cause of persistent and recurrent hypoglycemia in the first years of life and in many patients rare genetic variants can be identified. Recently a case of congenital hyperinsulinemic hypoglycemia and a severe neurodevelopmental syndrome