# May 2022

- Link: https://isnr.in/may-2022/
- Published: 2022-05-01T17:05:09+05:30
- Author: ISNR

##  May 2022

**CASE HISTORY**: 
A 5month old male child born out of by non-consanguineous marriage
presented with history of left focal seizure, reddish discoloration of left hand
and delayed attainment of milestones. Parents also noticed increase in fairness 
of the baby and loss of hair.upper and lower limbs.

## **Case contributed by –**

Dr. Reshma Varghese^(1), Dr. Lokesh Saini^(2.) Dr Taruna Yadav^(1   ) , Dr. Sarbesh
Tiwari^(1)

Department of Diagnosis and Interventional Radiology (1) and Department of Pediatrics(
2) 

All India Institute of Medical Sciences, Jodhpur

| [⌊May22_1⌉](https://isnr.in/wp-content/uploads/2022/05/May22_1.jpg) | [⌊May22_2⌉](https://isnr.in/wp-content/uploads/2022/05/May22_2.jpg) | [⌊May22_3⌉](https://isnr.in/wp-content/uploads/2022/05/May22_3.jpg) | [⌊May22_4⌉](https://isnr.in/wp-content/uploads/2022/05/May22_4.jpg) | 
| [⌊May22_5⌉](https://isnr.in/wp-content/uploads/2022/05/May22_5.jpg) | [⌊May22_6⌉](https://isnr.in/wp-content/uploads/2022/05/May22_6.jpg) | [⌊May22_7⌉](https://isnr.in/wp-content/uploads/2022/05/May22_7.jpg) |  |

| [](https://isnr.in/wp-content/uploads/2022/05/15may22_1.jpg) | [](https://isnr.in/wp-content/uploads/2022/05/15may22_2.jpg) | [](https://isnr.in/wp-content/uploads/2022/05/15may22_3.jpg) |  | 
| [](https://isnr.in/wp-content/uploads/2022/05/15may22_5.jpg) | [](https://isnr.in/wp-content/uploads/2022/05/15may22_6.jpg) | [](https://isnr.in/wp-content/uploads/2022/05/15may22_7.jpg) |  | 
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Annotations

Figure : Image (a) The clinical images of the patient’s scalp  shows fair complexion
of the child with hypopigmented , sparse and short scalp hair (white arrows). The
axial T2 (b & c) images shows  bilateral subdural hygroma (asterix) with significant
cerebral and cerebellar volume loss. The axial T1 image (d) shows delayed myelination,
corresponding to birth. The axial susceptibility weighted images (e & f) shows extensive
superficial siderosis along the cerebral sulcal and cerebellar folial spaces (black
arrowheads). The time of flight MR angiogram image (g) shows tortuous intracranial
and extracranial arteries (dashed arrows).

## •Metabolic work up revealed low serum copper and ceruloplasmin levels.

# **FINAL DIAGNOSIS **:**Menkes disease (MD)**

**DISCUSSION:**

•Menkes disease (MD) is a rare lethal X-linked recessive disorder due to mutations
in the _ATP7A_ gene with incidence of 1 in 300 000 (1), causing impaired absorption
and cellular metabolism of copper. Reduced activity of copper-dependent enzymes 
leads to abnormalities in connective tissue, blood vessels, and hair.

•MRI is the investigation of choice. Cerebral and cerebellar atrophy and delayed
myelination are the earliest changes seen (2). Subdural collections are relatively
common finding in all children with MDs (3). Basal ganglia can also be involved 
in Menkes disease,  most vulnerable parts are the head of the caudate nucleus and
anterior putamen followed by the globus pallidus and it is due to occlusion of small
perforating arteries (4).Tumefactive lesions can also be seen, predominantly in 
temporal lobes which can be symmetric/asymmetric (4). Tortuosity of intracranial
vessel is a typical diagnostic feature of Menkes disease (3). Stenosis and ectasia
of intracranial vessels are not reported. 

**References **

1.Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet. 2010 May;18(5):511–8.

2.Bindu PS, Taly AB, Kothari S, Christopher R, Gayathri N, Sinha S, et al. Electro-
clinical features and magnetic resonance imaging correlates in Menkes disease. Brain
and Development. 2013 May 1;35(5):398–405.

3.Manara R, D’Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, et al. Neuroimaging
Changes in Menkes Disease, Part 1. American Journal of Neuroradiology. 2017 Oct 
1;38(10):1850–7.

4.Manara R, Rocco MC, D’agata L, Cusmai R, Freri E, Giordano L, et al. Neuroimaging
Changes in Menkes Disease, Part 2. American Journal of Neuroradiology. 2017 Oct 
1;38(10):1858–65.