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Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features.

BMJ case reports - 2 Oct 2024

Parmar Vimesh, Singh Arunkumarendu, Madhudiya Rinkal

Abstract excerpt

We present a case of a male term neonate with lethargy, hypotonia, hypoventilation and severe encephalopathy. The infant had a history of two siblings who died in the neonatal period from unclear causes. The infant exhibited skin and hair abnormalities, including desquamation of the extremities, angular stomatitis, cheilitis, neonatal acne and thin, sparse hair. Additionally, the infant had a tall stature; long,...

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PMID: 39357918
DOI: 10.1136/bcr-2024-261755

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