Not just another case of low back pain
Kristin Etzkorn1, Alyce M Oliver
1Department of Medicine, Georgia Regents University, Augusta, Georgia, USA.
BMJ Case Reports
|May 1, 2014
Summary
Alkaptonuria, a rare genetic disorder, caused severe ochronotic arthropathy in a 55-year-old woman. This led to debilitating low back and neck pain due to advanced spinal degeneration.
Area of Science:
- Biochemistry
- Genetics
- Orthopedics
Background:
- Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of the enzyme homogentisate 1,2-dioxygenase.
- This deficiency leads to the accumulation of homogentisic acid, causing ochronosis, a condition characterized by bluish-black discoloration of connective tissues.
Observation:
- A 55-year-old woman presented with chronic, progressive low back and neck pain refractory to conservative treatments.
- Physical examination revealed limited spinal mobility and bilateral bluish discoloration of the ear pinnae.
- Elevated urinary homogentisic acid confirmed the diagnosis of alkaptonuria.
Findings:
- Spinal imaging demonstrated advanced diffuse degenerative changes in both the cervical and lumbar spine.
- These degenerative changes were consistent with ochronotic arthropathy, a known complication of alkaptonuria.
Implications:
- This case highlights the significant skeletal manifestations of alkaptonuria, particularly ochronotic arthropathy.
- Early diagnosis and management of alkaptonuria are crucial to mitigate severe joint degeneration and improve patient outcomes.
- Further research into therapeutic strategies for ochronotic arthropathy is warranted.
Related Concept Videos
01:29Herniated Intervertebral Disc l: Introduction
40
Intervertebral disc herniation refers to the displacement of the nucleus pulposus (the gel-like inner core of the disc) through a tear or weakened area in the annulus fibrosus (the outer fibrous ring). The displaced disc material extends beyond the normal boundaries of the disc space and may compress or irritate nearby spinal nerve roots or, less commonly, the spinal cord.Etiology and Risk FactorsHerniation commonly results from degeneration, in which aging reduces disc hydration and...
40
01:27Muscles of the Vertebral Column
5.3K
The back muscles that lie deep into the thoracolumbar fascia are called intrinsic or true back muscles. These muscles are divided into four layers: superficial, intermediate, deep, and deepest layers.
Superficial Layer:
The superficial layer consists primarily of the splenius muscles, which include the splenius capitis and splenius cervicis. These muscles are mainly responsible for the head and cervical spine movements, including extension, rotation, and lateral bending. The splenius capitis...
Superficial Layer:
The superficial layer consists primarily of the splenius muscles, which include the splenius capitis and splenius cervicis. These muscles are mainly responsible for the head and cervical spine movements, including extension, rotation, and lateral bending. The splenius capitis...
5.3K
01:27Degenerative Disc Disease I: Introduction
29
Degenerative disc disease is a chronic condition in which intervertebral discs gradually lose structure and function. It is not infectious or autoimmune; rather, it results from age-related biochemical and mechanical changes, influenced by genetic, metabolic, and environmental factors.Structure and Function of DiscsThe spine contains 23 intervertebral discs that absorb load, distribute forces, maintain spacing, and allow flexibility. Each disc consists of a nucleus pulposus, a gel-like core...
29