J Korean Med Sci.  2011 Jul;26(7):951-953. 10.3346/jkms.2011.26.7.951.

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

• Kim YH
• Lee R
• Yoo HW
• Yum MS
• Bae SH
• Chung SC
• Park YM
• Son JS

• KMID: 1094269
• DOI: http://doi.org/10.3346/jkms.2011.26.7.951

Abstract

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.

Keyword

Menkes Disease; MNK Gene; ATP7A Mutation

MeSH Terms

Adenosine Triphosphatases/*genetics
Asian Continental Ancestry Group/*genetics
Cation Transport Proteins/*genetics
Humans
Infant
Magnetic Resonance Imaging
Male
Menkes Kinky Hair Syndrome/*diagnosis/genetics
Mutation
Republic of Korea
Seizures/diagnosis
Sequence Analysis, DNA
Spasms, Infantile/diagnosis

Figure

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  Fig. 1 A photography of the patient's head shows kinky, brown-colored and fragile hair.

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  Fig. 2 EEG records of the case. (A) At first admission, the pattern is consistent with electrical partial seizures from the right temporal area. (B) At 3 months later, the pattern is consistent with modified hypsarrhythmia.

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  Fig. 3 Brain MRI shows vascular tortuosity and diffuse brain atrophy.

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  Fig. 4 Gene analysis reveals c.2743C>T at exon 13 (p.Gln915X).

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