Clinical and molecular characterization of an extended family with Fabry disease.

OBJECTIVE: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system. RESULTS: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.

Aneurysmal third nerve palsy.

To study the clinical characteristics, treatment and outcome of patients with aneurysmal third nerve palsy. Eleven patients with isolated third nerve palsy from an intracranial aneurysm from 1998 to 2002 at Ramathibodi Hospital were reviewed retrospectively. The average age was 60 years. Ipsilateral headache and/or retroorbital pain occured in 80 percent of the patients. Ten patients had unilateral disease, whereas one patient had bilateral involvement. The most common site of aneurysm was at the origin of the posterior communicating artery. Endovascular treatment with coil embolization provided successful occlusion as well as neurosurgical clipping. Recovery of third nerve function was found in all patients but had variable degrees. Patients who received early treatment, especially within 10 days after onset of oculomotor dysfunction appeared to have the best chance of recovery. Aberrant regeneration developed in 5 cases. The commonest sign was lid retraction during adduction and downward gaze.

Simple technique for silicone intubation in congenital nasolacrimal duct obstruction.

OBJECTIVE: To propose a simple and low cost technique of using the simple materials in the operating room for silicone intubation in case of nasolacrimal duct obstruction in children after failed probing. METHOD: The study was a consecutive case series. Three patients with congenital nasolacrimal duct obstruction aged 42, 51 and 72 months were referred to the authors. Their symptoms persisted after probing twice with or without infracture inferior turbinate. The authors decided to insert a silicone tubing by using an 18-gauge, intravascular catheter as a channel to place a silicone tubing into the nasolacrimal system. Success was defined as a complete resolution of symptoms and signs (tearing, crusting, discharge, regurgitation on pressure over the lacrimal sac) after silicone intubation. RESULTS: All three patients were free of symptoms and signs after insertion of silicone tubing and an average 5.5 months (9, 6, 1.5 months) after removal of the silicone tubing. There were no intraoperative complications. No unplanned silicone tubing removal was needed and also no complications associated with silicone stent, such as punctal erosion, corneal erosion or granuloma formation occurred. CONCLUSION: This simple and low cost technique using an intravascular catheter as a channel to place the silicone tubing into the nasolacrimal system in case of congenital nasolacrimal duct obstruction in children works well. This new technique is not only inexpensive but also effortless with no complications.