Infantile tremor syndrome masquerading as Menkes kinky hair disease with long-term follow-up

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Infantile tremor syndrome is characterised by anaemia, developmental delay, hair changes and tremors.^[1] Menkes disease (MD) is an X-linked recessive disorder due to mutations in the ATP7A gene manifest with developmental delay, seizures, subdural effusion and hair changes (pili torti).^[2]

A 12-month boy presented with developmental delay, followed by regression. The child attained neck holding by 6 months, reaching out for objects by 10 months and bisyllables by 1 year. At around 12 months, he developed a fever and subsequently had a regression in all domains. On examination, pallor, hyperpigmented knuckles, hand tremors, weight - 6.59 kg (−5.34 WHO Z), head circumference - 41 cm (−5.64 WHO Z), hypotonia in all limbs with 3/5 power and brisk deep tendon reflexes were noted. Investigations revealed haemoglobin of 5.1 g/dL, a total count of 8200/µL, platelet of 1.62 L/µL, mean corpuscular volume of 103 fL, low Vitamin B12 of 85 (normal: 156–672 pg/mL), normal serum copper of 18 (17.50 ± 4.10 µmol/L) and ceruloplasmin of 30 (31.5 ± 8.0 mg/dL) levels. Magnetic resonance imaging (MRI) brain showed diffuse cerebral atrophy, widened Sylvian fissure with prominent subdural spaces [Figure 1a-d]. Magnetic resonance angiography showed a tortuous left middle cerebral artery. The hair examination was normal. The child was treated with injectable Vitamin B12 and showed improvement.

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Figure 1:

(a-d) Magnetic resonance imaging brain-T2W axial sections at 1 year of age show diffuse cerebral atrophy, widened Sylvian fissure with prominent subdural spaces.

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During the last follow-up at 6 years, he has normal motor and cognitive development, a weight of 14 kg (−2.04 WHO Z), a head circumference of 47 cm (−2.50 WHO Z), mild spasticity, and brisk deep tendon reflexes. The hair and skin changes had resolved [Figures 2a and b] with the reversal of MRI changes [Figure 3a-d].

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Figure 2:

(a and b) Clinical photograph of a child at 6 years of age showing a bright, active and alert child with normal hair and skin.

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Figure 3:

(a-d) Magnetic resonance imaging of the brain-T2W axial sections at 6 years of age shows a complete reversal of cerebral atrophy.

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We considered MD as a child who had a developmental delay with regression, hair changes and MRI changes; however, the hair examination was normal. The neuroimaging feature of tortuous intracranial vessels forms a typical diagnostic feature and is a handle in MD.^[3]