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NEUROIMAGING |
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| Year : 2019 | Volume
: 14
| Issue : 2 | Page : 103-104 |
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Wormian bones and dilated scalp veins in an infant with epilepsy
Manjinder Randhawa1, Sumeet R Dhawan1, Sugantha Kumar1, Bhanudeep Singanamala1, Anmol Bhatia2, Lokesh Saini1, Naveen Sankhyan1
1 Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India
| Date of Web Publication | 20-Aug-2019 |
Correspondence Address:
Dr. Lokesh Saini
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160012.
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_151_18
 Abstract | | |
A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. The child was diagnosed with Menkes disease. The manuscript aims to emphasize dilated scalp veins in diagnosis of Menkes disease.
Keywords: Arterio-venous malformation, AVM, biotinidase, hypopigmented, Menkes
How to cite this article:
Randhawa M, Dhawan SR, Kumar S, Singanamala B, Bhatia A, Saini L, Sankhyan N. Wormian bones and dilated scalp veins in an infant with epilepsy. J Pediatr Neurosci 2019;14:103-4 |
A 3-month-old boy presented with lethargy, refusal to feed, and left focal tonic seizures involving the face and upper and lower limbs lasting about a minute for the last 4 days. On examination, he had a fair complexion, sparse hypopigmented hair, brachycephaly, and visibly dilated superficial veins over the scalp [Figure 1]. The child had hypotonia, normal deep tendon reflexes, and normal sensory examination. A suspicion of Menkes disease arose because of the fair complexion, sparse and light-colored hair, and seizures. The hair microscopy did not reveal pili torti or trichorrhexis nodosa. An X-ray of the skull showed prominent markings of dilated skull veins on bones [Figure 1]. The serum copper and ceruloplasmin were 17.3 µg/dL (range 70–140 µg/dL) and 3.9mg/dL (range 20–35mg/dL) respectively. A magnetic resonance imaging of the brain revealed tortuosity of the intracranial vessels. On next-generation sequencing, a contiguous region corresponding to exons 8–12 and partial region of exon 13 of the ATP7A gene (ENST00000341514) was not covered in the sequence data of this sample. This region is usually well covered, and hence could likely be due to hemizygous deletion of the region in the gene. These suggest that the deletion is likely pathogenic. The child succumbed to refractory seizures at home after 1 month. The parents were provided genetic and prenatal counseling. | Figure 1: Photograph of a child showing dilated scalp veins (upper panel). The X-ray skull of the child showing Wormian bones and prominent markings of scalp veins (lower panel)
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Menkes disease is an X-linked recessive disease of copper metabolism.[1] Deficiency of copper-containing enzymes leads to abnormal collagen formation, leading to alterations of skin, hair, bones, and blood vessels. Tortuosity of the intracranial arteries and phlebectasia of venous channels have been reported.[2],[3] Dilated scalp veins may represent an extension of the same pathophysiological process and serve as an important examination finding for suspecting Menkes disease in an infant. Other skeletal changes include diaphyseal and metaphyseal fractures and metaphyseal spurs.[4] The case highlights that a simple skull radiograph might suggest an underlying abnormality in intracranial vessels, and can clinically narrow down the diagnosis of Menkes disease.
Ethical approval
An informed consent form was signed by the parents of the patient to approve the use of patient information or material for scientific purposes. The patient’s identity has not been disclosed anywhere in the manuscript and does not contain any identifiable images.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-79.  |
| 2. | Sharawat IK, Suthar R, Vyas S, Rawat A, Sankhyan N Mystery case: Tortuous hairs and tortuous blood vessels. Neurology 2018;90:e1174-6. |
| 3. | Manara R, Rocco MC, D’Agata L, Cusmai R, Freri E, Giordano L, et al. Neuroimaging changes in Menkes disease, part 2. AJNR Am J Neuroradiol 2017;38:1858-65. |
| 4. | Amador E, Domene R, Fuentes C, Carreño JC, Enríquez G Long-term skeletal findings in Menkes disease. Pediatr Radiol 2010;40:1426-9. |
[Figure 1]
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