Tigroid pattern on magnetic resonance imaging in Lowe syndrome

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Lowe syndrome (oculocerebrorenal syndrome) is a rare X-linked recessive genetic disorder.
• It is characterized by a combination of congenital cataracts, glaucoma, cognitive developmental delay, and renal tubular Fanconi syndrome.

Observation:

• This report details a patient diagnosed with Lowe syndrome.
• The patient exhibited a distinctive tigroid pattern on their cranial magnetic resonance imaging (MRI).

Findings:

• The tigroid pattern observed on cranial MRI is a novel imaging finding in Lowe syndrome.
• This specific MRI pattern has not been previously documented in the literature for this condition.

Implications:

• The identification of this tigroid MRI pattern may aid in earlier diagnosis of Lowe syndrome.
• This finding could potentially refine diagnostic criteria and improve understanding of the neurological manifestations of Lowe syndrome.