Humans ; Oculocerebrorenal Syndrome ; diagnosis

Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characteristic of Lowe syndrome, but skin lesions have rarely been described. Recently, mechanisms for the association of Lowe syndrome and skin lesions have been proposed. We report this case of Lowe syndrome involving multiple epidermal cysts on the scalp in a 6-year-old male child.
Child ; Epidermal Cyst ; Eye ; Humans ; Kidney ; Male ; Nervous System ; Oculocerebrorenal Syndrome ; Scalp ; Skin

OBJECTIVETo identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome).

METHODSClinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR. Mutations were detected by direct sequencing the PCR products.

RESULTSThe infant was found to have carried a c.1499G>A (p.R500Q) mutation in exon 15 of the OCRL gene, which was transmitted from his mother, who was heterozygous for the same mutation. The c.1499G>A mutation, discovered in Chinese population for the first time, has been reported to cause severe Lowe syndrome in other ethnic populations.

CONCLUSIONThe c.1499G>A mutation of the OCRL gene is probably responsible for the disease in the patient. Further study of this mutation may facilitate delineation of the genotype-phenotype correlation of this disease.

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). The patient's mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.
DNA Mutational Analysis ; Humans ; Infant ; Male ; Mutation, Missense ; Oculocerebrorenal Syndrome ; genetics ; Phosphoric Monoester Hydrolases ; genetics

OBJECTIVE: To explore the genetic etiology for a child with ocular dysplasia. METHODS: Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations. RESULTS: Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0. CONCLUSION The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.
Child ; Chromosome Aberrations ; DNA Copy Number Variations ; Humans ; Microarray Analysis ; Oculocerebrorenal Syndrome

Lowe syndrome is a rare genetic condition that involves three major organs: eyes, brain, and kidney. Anesthetic management can be challenged by problems associated with high ocular pressure, mental retardation, and renal tubular dysfunction. We report a case of a 17 year-old boy with Lowe syndrome accompanied by end-stage renal disease who underwent general anesthesia for arteriovenous fistula formation. The Anesthetic implications of this syndrome are also described.
Anesthesia ; Anesthesia, General ; Arteriovenous Fistula ; Brain ; Eye ; Humans ; Intellectual Disability ; Kidney ; Kidney Failure, Chronic ; Oculocerebrorenal Syndrome ; Quaternary Ammonium Compounds

Lowe syndrome is, also known as oculocerebrorenal syndrome, a rare X-linked disorder characterized by congenital cataract, hypotonia, developmental delay, cogntive impairment, renal tubular dysfunction, and growth retardation. Recently the defevtive gene, OCRL-1 encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. The diagnosis is based on characteristic clinical manifestations involving three major systems. Two patients had the history of congenital cataract, proteinuria seizure and developmental delay. Patient 2 showed right side hemiplegia due to cerebral infarction of left occipital lobe. There are no specific therapies for this disorder yet, and we provided seizure therapy by antiepileptics.
Anticonvulsants ; Cataract ; Cerebral Infarction ; Clone Cells ; Diagnosis ; Hemiplegia ; Humans ; Muscle Hypotonia ; Occipital Lobe ; Oculocerebrorenal Syndrome* ; Proteinuria ; Seizures

Lowe syndrome is a rare X-linked recessive multisystem disorder affecting the eyes, central nervous system, and kidney. The clinical features include congenital cataract, growth and mental retardation, areflexia, hypotonia, and renal tubular dysfunction (Fanconi's syndrome). The chronic metabolic acidosis may be the most important component affecting anesthetic management. Also, problems such as electrolyte imbalance, hypotonia, seizure, and increase of intraocular pressure should be considered during the perioperative period. We report the experience of anesthetic management for removal of corneal keloid in a patient with Lowe syndrome.
Acidosis ; Anesthesia ; Cataract ; Central Nervous System ; Humans ; Intellectual Disability ; Intraocular Pressure ; Keloid ; Kidney ; Muscle Hypotonia ; Oculocerebrorenal Syndrome* ; Perioperative Period ; Seizures

Lowe syndrome is a rare X-linked recessive multisystem disorder affecting the eyes, central nervous system, and kidney. The clinical features include congenital cataract, growth and mental retardation, areflexia, hypotonia, and renal tubular dysfunction (Fanconi's syndrome). The chronic metabolic acidosis may be the most important component affecting anesthetic management. Also, problems such as electrolyte imbalance, hypotonia, seizure, and increase of intraocular pressure should be considered during the perioperative period. We report the experience of anesthetic management for removal of corneal keloid in a patient with Lowe syndrome.
Acidosis ; Anesthesia ; Cataract ; Central Nervous System ; Humans ; Intellectual Disability ; Intraocular Pressure ; Keloid ; Kidney ; Muscle Hypotonia ; Oculocerebrorenal Syndrome* ; Perioperative Period ; Seizures

PURPOSE: We report two cases of brothers diagnosed with oculocerebrorenal syndrome after binocular congenital cataract surgery. METHODS: Two brothers who had undergone surgeries for congenital cataracts showed growth retardation, proteinuria, and generalized tonic seizures. The patients were referred to the pediatrics department and evaluated for systemic diseases and genetic counseling. RESULTS: Two brothers had renal tubular dysfunction characterized by hypercalciuria and hyperphosphaturia. The older brother had multiple microcalcifications on both kidneys, and ischemic injury with general dysfunction of the brain. Genetic analysis of brothers and their mother showed a new mutation of P799L in the region of the chromosome Xq25-26.1 locus. The two brothers were diagnosed with oculocerebrorenal syndrome of Lowe (OCRL). CONCLUSIONS: In cases of patients with congenital cataracts, the evaluation of systemic disease including genetic abnormality should be considered whenever systemic symptoms such as growth retardation, proteinuria or seizure are found.
Brain ; Cataract* ; Genetic Counseling ; Humans ; Hypercalciuria ; Hypophosphatemia, Familial ; Kidney ; Mothers ; Oculocerebrorenal Syndrome* ; Pediatrics ; Proteinuria ; Seizures ; Siblings* ; Telescopes