Lowe's syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations.

Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones. A 4 month-old child with Lowe's and Fanconi's syndrome, undergoing bilateral congenital cataract surgery, is presented. Preoperative electrolyte imbalance was corrected by potassium, calcium, magnesium, phosphate, and bicarbonate supplementation. Anesthesia was administered uneventfully using appropriate anesthetic agents and monitoring. Adequate preoperative evaluation and optimization, along with selection of anesthetic agents and fluid and electrolyte management with appropriate perioperative monitoring, is key to a successful outcome.

Corneal keloid.

Reports of corneal keloids are rare, with fewer than 80 cases published since the first case was documented in 1865. Keloids can be congenital or primary, but most often are associated with ocular surface injury or pathology. They have been reported in association with a number of congenital conditions, notably lowe's syndrome. Keloids are characterized histopathologically by a haphazard arrangement of fibroblasts, collagen bundles, and blood vessels. They have sometimes been confused with hypertrophic scars, but differ from such scars in that they may appear months or years after initial trauma and enlarge over time. The underlying cornea may be clear and uninvolved, or it may be opaque, depending on the primary pathology of the keloid. Treatment options include superficial keratectomy, lamellar or penetrating keratoplasty, and sclerokeratoplasty. The purpose of this review is to tabulate features of the reported corneal keloids, describing their etiologic, clinical, and histopathologic characteristics and discussing possible mechanisms of keloid formation.

[Delleman syndrome: anesthetic considerations]. / Syndrome de Delleman: prise en charge anesthésique.

We herein report a case of a 5-year-old patient with Delleman Syndrome, a rare congenital disorder affecting the eyes, skin, and central nervous system, who underwent general anesthesia for conjuctivoplasty. This is only the second report of the anesthetic management of a patient with this condition. We attempt to summarize some of the anesthetic implications of this syndrome.

[Clinical and genetic results with reference to corneal alterations in Lowe-syndrome]. / Klinische und genetische Befunde unter besonderer Betrachtung kornealer Veränderungen bei Lowe-Syndrom.

BACKGROUND: The Lowe oculo-cerebro-renal syndrome (OCRL1) is a rare X-linked disease which causes impairment of visual acuity. The situation may be further complicated by corneal alterations. PATIENTS AND METHODS: In total seven patients from different families were clinically examined by slit-lamp examination, funduscopy, measurement of the intraocular pressure and ultrasound sonography. Molecular genetic analysis was performed in six patients by sequencing large PCR amplicons with a DNA sequencer and the ABI PRISM Sequence navigator software. RESULT: All affected boys were aphakic. Due to high intraocular pressure, iridectomy, goniotomy, cyclo-cryo treatment or trabeculectomy were performed. All patients showed opacity or pannus-like alterations of the cornea. Molecular genetic analysis revealed four novel and two known mutations. CONCLUSION: Reduced visual acuity was partly explained by morphological changes due to the underlying genetic defect and the development of cataract and glaucoma. Opacity of the cornea as well as alterations of the cornea seem to be a major problem in the course of the disease.

Cataracts and glaucoma in patients with oculocerebrorenal syndrome.

BACKGROUND: Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules. Other ocular findings include glaucoma, corneal opacity (keloid), enophthalmos, and hypotonia. OBJECTIVE: To describe the treatment of 7 patients (14 eyes) with bilateral cataracts associated with oculocerebrorenal syndrome. Method Retrospective review. RESULTS: Seven patients with oculocerebrorenal syndrome had visually significant bilateral cataracts detected on their first full ophthalmic examination. All underwent bilateral cataract surgery. The mean age (of 14 eyes) at cataract extraction was 1.25 (median, 1.1) months. Glaucoma diagnosis and treatment were more variable. The mean age (of 11 eyes) at glaucoma diagnosis was 24.1 (range, 0.2-70.0) months: the mean age was 0.2 month (of 4 eyes) when glaucoma was diagnosed before cataract extraction, and the mean age was 37.7 months (of 7 eyes) when glaucoma was diagnosed after cataract extraction. All eyes were followed up for a mean of 100.8 (range, 38-190) months. Main Outcome Measure Treatment of 7 patients (14 eyes) with bilateral cataracts associated with oculocerebrorenal syndrome. CONCLUSIONS: Early identification and surgical removal of cataracts is recommended in patients with oculocerebrorenal syndrome. Despite this, visual acuity results will only rarely be better than 20/70, and nystagmus is likely. Patients should be monitored closely and regularly for changes in intraocular pressure, optic nerve cupping, and refractive error to rule out the development of glaucoma.

Ascorbic acid and amino acid values in the aqueous humor of a patient with Lowe's syndrome.

BACKGROUND: Aminoaciduria is found in Lowe's syndrome. No studies of concentrations of ascorbic acid and amino acids in the aqueous humor of the syndrome have been performed. We examined these concentrations in a patient with Lowe's syndrome. METHODS: Ascorbic acid and amino acid levels in the aqueous humor and plasma of a male infant were measured by means of high-performance liquid chromatography. The patient, who had congenital cataract, miotic pupils, opaque corneas, glaucoma, aminoaciduria, normal levels of ascorbic acid and amino acid in the plasma, and renal tubular acidosis, underwent trabeculotomy, lensectomy, and anterior vitrectomy in both eyes. RESULTS: Intraocular pressure in both eyes decreased to within the normal range, but both corneas remained opaque. The amino acid levels in the aqueous humor were similar to those in the plasma, but intracameral ascorbic acid levels were decreased. After topical instillation of ascorbic acid, the corneas became transparent. The proband's mother had good visual acuity but paracentral lens opacities in both eyes. His maternal grandmother had scattered cortical opacities in both lenses. CONCLUSION: In this infant with Lowe's syndrome, we found intracameral levels of amino acids similar to those in the plasma. Levels of ascorbic acid in the aqueous humor were decreased.

[A series of anesthesia for a child with Lowe's syndrome].

A series of anesthesia for a child with Lowe's syndrome was reported. The boy underwent general anesthesia for 6 times for ophthalmic and dermatologic surgeries in approximately eight years since the age of only four months when the first anesthesia had been given. From the third to the fifth episodes of anesthesia, marked metabolic acidosis was noted, but at the first and second anesthesia, metabolic acidosis had not been recognized. Such acidosis was corrected each time by 7% NaHCO3 infusion at the early stage of anesthesia, and afterwards uneventful courses were seen. In the last anesthesia, acidosis was not found, though disturbance of renal functions were suspected because of abnormal urinary NAG and beta 2-microglobulin value in blood. Attention should be paid to possible anesthetic hazards in Lowe's syndrome patients such as metabolic acidosis due to the renal-tubular dysfunction, the risk of convulsion, glaucoma, the fragility of the bone structures, and so forth.

Oculo-cerebro-renal syndrome (Lowe's syndrome).

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heredity are discussed.