Hosting 718 files, 2916 images, and 4 contributors.

 
Random Case

MELAS
Joseph Junewick, MD FACR
over 6 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Menkes Syndrome

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 4 years ago
Updated: over 4 years ago
Tags: PEDS
Modality/Study Types: CR MR
Activities:
Adobe32 PDF Imagej32 ImageJA

History

3 month old male with seizures, apnea and respiratory failure. Born prematurely at 29 weeks.


Case Images


Diagnosis

Menkes Syndrome

Clinical Notes

Hair is fuzzy and palpably dry. Ears are large with elongated ear lobules. Nonmeasurable copper level.

Findings

CR –Moderate metaphyseal deformities of the proximal humerii and constochondral junctions.

MR – Marked decreased T1 and increased T2 white matter signal with loss of the cerebral cortical ribbon in the bilateral temporal regions and thinning of the cortical ribbon in the perirolandic regions.

Discussion

Menkes disease is a broad range of conditions that affects males (X-linked). One third of the time infants represent a de novo occurrence rather than an inherited condition. The condition occurs because of an inability to transport copper across the intestinal mucosa. First presenting signs and symptoms occur at 2-3 months of age. Findings include low muscle tone, osteopenia, seizures, intracranial hemorrhage, failure to thrive and developmental regression. Additional characteristics may include coarse facial features, coarse hair, temperature instability and hypoglycemia in the neonatal period. This condition results in death, usually by 3 years of age. The inevitable progression to childhood death is preceded by neurological regression. Early treatment consists of injections of copper histidine to replace the no-absorbed copper but copper therapy has not been definitefly proven to prevent neurologic damage. It is though the the opportunity to prevent CNS damage is lost if therapy is not initiated by about 10 days of age. Therapy may not be effective in some individuals. Fractures in Menkes may follow minor trauma, and metaphyseal fractures with spurring may also occur that appear very similar to those seen in nonccaccidental trauma and have erroneously led to that diagnosis.

Reference

Adams PC, Strand R, Bresnan MJ, Lucky AW. Kinky hair syndrome: Serial study of radiological findings with emphasis on the similarity to the battered child syndrome. Radiology 1972; 112:401-407.

Slovis TL. Caffey’s Pediatric Diagnostic Imaging. Philadelphia: Mosby/Elsevier, 2008. Print.

Contributor

S. Andrew Hoff, MD



Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare