[Oculocardiac reflex associated with orbital floor fracture; the value of a reliable patient history].

Background: The oculocardiac reflex presents when traction is applied to ocular muscles or on compression of the eyeball in the orbit. It is a vasovagal reaction that may be accompanied by bradycardia, nausea and vomiting.

Case Description: A 6-year-old boy presented with vomiting and acute pain in his right eye, but no history of trauma.

Experience with molecular adsorbent recirculating system treatment in 20 children listed for high-urgency liver transplantation.

For more than 10 years, children at our national center for pediatric liver transplantation (LT) have been treated with Molecular Adsorbent Recirculating System (MARS) liver dialysis as a bridging therapy to high-urgency LT. Treatment was reserved for 20 patients with the highest degrees of hepatic encephalopathy (HE; median grade = 3.5).

MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome.

Background And Objective: : Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy and reduced expression of enzymes at the enterocytes' apical surface. MVID is associated with mutations in the MYO5B gene, which is expressed in all epithelial tissues. Whether organs other than the intestine are affected in MVID is unclear.

Neurocognitive functioning in school-aged cystinosis patients.

Introduction: Cystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues. It causes renal Fanconi syndrome and end stage renal failure around the age of 10 years if not treated with cysteamine. Children with cystinosis seem to have a normal intelligence but frequently show learning difficulties.

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition.

Background And Objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition.