Malar rash in classical homocystinuria

Description

An 8-year-old girl with intellectual disability and severe myopia presented with subacute bilateral painless loss of vision. Anthropometric examination showed a weight of 26 kg (–0.1 Z score), height of 122.5 cm (between –1 and –2 Z score), arm span of 129 cm (6.5 cm longer than the height) and head circumference of 51 cm (between –1 and –2 Z score). Physical examination showed thin, hypopigmented hair with malar rash (figure 1A), acral hyperpigmentation, bilateral inferonasal subluxation of lens and bilateral optic atrophy. Other marfanoid features such as arachnodactyly, high-arched palate, joint hyperlaxity and cardiac anomalies were absent. A clinical diagnosis of classical homocystinuria was considered. Investigations showed elevated plasma homocysteine of 209 µmol/L (range 5–15 µmol/L), urine homocystine of 76 mmol/mol creatinine (range 0–4 mmol/mol creatinine), serum vitamin B₁₂ of 445 pg/mL (211–911 pg/mL), normal methionine of 51 µmol/L (0–75 µmol/L) and a normal carnitine profile, which confirmed our clinical diagnosis. MRI of the brain showed normal parenchyma with bilateral...

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