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Related Experiment Video

Updated: May 20, 2026

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

T1 hyperintense disc in alkaptonuria.

Alan A Sag¹, Richard Silbergleit, Rick E Olson

¹Department of Radiology, William Beaumont Hospital, Royal Oak, MI 48073, USA. alan.sag@beaumont.edu

|July 10, 2012

Summary

This summary is machine-generated.

This case report details a rare instance of alkaptonuria (AKU) manifesting as a T1-hyperintense disc herniation. The study highlights the importance of considering AKU in the differential diagnosis of spinal abnormalities.

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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

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Published on: March 11, 2020

Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species

Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species

Published on: August 30, 2012

Area of Science:

Biochemistry
Radiology
Pathology

Background:

Alkaptonuria (AKU) is a rare inherited metabolic disorder.
It is characterized by the deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid.
This accumulation can cause ochronosis, affecting connective tissues, including intervertebral discs.

Observation:

A 46-year-old male presented with progressive back pain.
MRI revealed a T1-hyperintense and T2-hypointense disc herniation at L3-L4.
Surgical discectomy yielded a blackened disc, confirmed pathologically as nucleus pulposus with alkaptonuric involvement.

Findings:

Pathological confirmation of alkaptonuric involvement in the herniated disc.
Radiological findings of a T1-hyperintense disc herniation are presented.
The study emphasizes the characteristic MRI appearance of affected discs in alkaptonuria.

Implications:

This case expands the understanding of alkaptonuria's diverse clinical presentations.
It underscores the importance of considering metabolic disorders in spinal imaging differentials.
Highlights the value of integrating radiological and pathological findings for accurate diagnosis.