Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening

Journal of the Chinese Medical Association : JCMA
Kang-Hsiang ChengDau-Ming Niu

Abstract

A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history, and because of prior poor school performance, amino acid analysis and mutational analysis of the cystathionine beta-synthase gene were performed, which revealed the presence of homocystinuria. Low methionine diet with vitamin B6, folic acid, betaine, dipyridamole and aspirin was prescribed for emergency ophthalmologic surgery to prevent thromboembolic events. Fortunately, the operation was completed uneventfully. The patient has been followed-up for 4 years without any significant complaints under diet and medical control. Since homocystinuria is easily missed in neonatal screening programs, it should be suspected in patients who present with lenticular subluxation, even after a negative neonatal screen.

References

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Jun 12, 2004·The Journal of Pediatrics·Helga RefsumBengt Frode Kase
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Citations

Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao
Jun 1, 2011·International Ophthalmology·Juan D Martínez-GutiérrezElena López-Tizón
Jan 18, 2011·Pathology·Jeffrey Sung-Shing KwokNelson Leung-Sang Tang
Mar 7, 2018·World Journal of Pediatrics : WJP·Dong-Xiao LiYan-Ling Yang

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