CASE 968 Published on 22.03.2001

Menkes' disease (Trichopoliodystrophy)

Section

Neuroradiology

Case Type

Clinical Cases

Authors

R.N.Sener

Patient

7 months, male

Categories

No Area of Interest ; Imaging Technique MR, MR-Angiography

No Procedure ; No Special Focus ;

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Clinical History

Seizures, motor retardation, coarse hair, hypopigmentation

Imaging Findings

Presented with seizures and motor retardation. He had coarse hair, and hypopigmented skin. Two MR imaging studies were undertaken 4 months apart. T1 and T2 weighted images, FLAIR images, and 3-dimentional time-of-flight MR angiography were obtained.

Discussion

Patients with Menkes’ disease (trichopoliodystrophy) typically have coarse hair with broken ends, so the disease is also called kinky hair disease. The condition is an X-linked mitochondrial disorder. It is caused by an impaired absorbtion of copper from the intestinal wall with consequent impairment of cytochrome oxidase activity in the mitochondria. Presence of tortuous cerebral arteries, subdural hematomas, and cavitations (macrocystic encephalomalacia) are characteristic features of Menkes’ disease.

Differential Diagnosis List

Menkes’ disease (trichopoliodystrophy)

Final Diagnosis

Menkes’ disease (trichopoliodystrophy)

References

[1] Barkovich AJ Pediatric neuroimaging. Lippincott Williams & Wilkins, Philadelphia (2000).

[2] Jayawant S, Halpin S, Wallace S. Menkes kinky hair disease: an unusual case.
Europ J Paediatr Neurol. 2000;4(3):131-4. (PMID: 10872109)

[3] Sfaello I, Castelnau P, Blanc N, Ogier H, Evrard P, Arzimanoglou A.
Infantile spasms and Menkes disease.
Epileptic Disord. 2000 Oct;2(4):227-230. (PMID: 11174154)

[4] Hsich GE, Robertson RL, Irons M, Soul JS, du Plessis AJ . Cerebral infarction in Menkes' disease
Pediatr Neurol. 2000 Nov;23(5):425-8. (PMID: 11118799)

[5] Oyler RM. Fragile hair and seizures in a child.
Arch Dermatol. 2000 Mar;136(3):417, 420. (PMID: 10724209)

Case information

URL:	https://www.eurorad.org/case/968
DOI:	10.1594/EURORAD/CASE.968
ISSN:	1563-4086

Figure 1

Menkes' disease

Sagittal, T1-weighted MR image reveals a diffusely thinned corpus callosum. Tortuosity of the intracranial arteries are seen. Note a falcine sinus, a congenital anomaly, which also has a tortuose appearance (arrows).

T1-weighted images reveals destruction of cerebral tissue and macrocystic encephalomalacia more prominent at the left side. Also, a left-sided chronic subdural hematoma is noted.

T2-weighted image revealing similar findings.

Figure 2

Menkes' disease

FLAIR image obtained 4 months later reveals recurrent hemorrhage in the hematoma evidenced with presence of high signal.

Three-dimensional time-of-flight angiogram in transverse projection reveals gross tortuosity of the intracranial arteries, which is a characteristic finding in Menkes’ disease.