title: Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis.
authors.forename: Inderneel
authors.initials: I
authors.lastname: Sahai
authors.forename: Ganeshwaran H
authors.initials: GH
authors.lastname: Mochida
authors.forename: Eric F
authors.initials: EF
authors.lastname: Grabowski
authors.forename: Paul A
authors.initials: PA
authors.lastname: Caruso
mesh_terms: D001921:Brain / Q000098:blood supply* / Q000473:pathology; D003490:Cyanosis / Q000209:etiology; D003937:Diagnosis, Differential; D006403:Hematologic Tests; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000134:cerebrospinal fluid / Q000172:deficiency*; D008831:Microcephaly / Q000209:etiology* / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D020246:Venous Thrombosis / Q000175:diagnosis*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)