Central nervous system and renal investigations in patients with Lowe syndrome.

doi:10.1007/BF00316562

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Central nervous system and renal investigations in patients with Lowe syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Feb 1992

Pueschel S M, Brem A S, Nittoli P

Abstract excerpt

We describe three patients with Lowe (oculocerebrorenal) syndrome, emphasizing primarily the central nervous system and renal pathology. Using magnetic resonance imaging, we noted diffuse high T2 signals periventricularly, indicating significant white matter destruction, which may be responsible in part for the mental retardation, seizure disorder, hypotonia, and areflexia observed in the patients. In contrast to...

Topics

Adolescent
Adult
Cataract
Cerebral Cortex
Child
Epilepsy
Genes, Recessive
Genetic Carrier Screening
Genetic Linkage
Humans
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Function Tests

Kidney Tubules

Magnetic Resonance Imaging

Male

Neurologic Examination

Oculocerebrorenal Syndrome

Pedigree

Source

Open in PubMed

Identifiers

PMID: 1576608
DOI: 10.1007/BF00316562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1576608-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Central nervous system and renal investigations in patients with Lowe syndrome.PMID 1576608Read ↗

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.Semantic proximity Read ↗

Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

Dent-2 disease: a mild variant of Lowe syndrome.Semantic proximity Read ↗

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.Semantic proximity Read ↗

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndromeSemantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.