Novel ATP7A gene mutation in a patient with Menkes disease

Figures & data

Figure 1 Clinical findings.

Notes: (A) Dolichocephaly, alopecia, and hypopigmented skin; (B) kinky, hypopigmented hair; (C) pili torti observed during dermatoscopy.

Figure 2 Microscopic hair analysis.

Notes: (A) Trichorrhexis nodosa; (B) monilethrix.

Figure 3 Radiologic findings.

Notes: (A) Diffuse cerebral atrophy; (B) tortuosity of cerebral blood vessels.

Table 1 Copper enzymes, their role in MD, and the features in our patient

Enzyme	Biological role	Associated symptoms of MD	Reported patient
Cytochrome oxidase	Cellular metabolism	CNS degeneration	Present
Dopamine β-hydroxylase	Catecholamine production	Hypothermia, hypotension, diarrhea	Absent
Lysyl oxidase	Collagen and elastin cross- linking	Dysmorphic facial features, arterial defects, skin, bone, and joint abnormalities	Present
Sulfhydryl oxidase	Keratin cross-linking	Hair abnormalities	Present
Super oxide dismutase	Free radical scavengers	CNS degeneration	Present
Tyrosinase	Pigment formation	Hypopigmentation	Present

Abbreviations: CNS, central nervous system; MD, Menkes disease.