Case 27-2014: A 10-month-old boy with microcephaly and episodic cyanosis

New England Journal of Medicine

Volumn 371, Issue 9, 2014, Pages 847-858

  Sahai, Inderneel ^a,c   Mochida, Ganeshwaran H ^a,b,c   Grabowski, Eric F ^a,c   Caruso, Paul A ^a,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CARNITINE; FAMOTIDINE; FOLINIC ACID; GABAPENTIN; GLYCEROL; HYDROXOCOBALAMIN; LACTULOSE; LANSOPRAZOLE; LORAZEPAM; LOW MOLECULAR WEIGHT HEPARIN; PYRIDOXINE; RIBOFLAVIN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

APNEA; ARTICLE; BRADYCARDIA; BRONCHOMALACIA; BRONCHOSCOPY; CASE REPORT; CEREBRAL BLINDNESS; CHROMOSOME DUPLICATION; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CYANOSIS; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GASTROESOPHAGEAL REFLUX; GENETIC SCREENING; HOSPITAL ADMISSION; HUMAN; INFANT; INTENSIVE CARE UNIT; MALE; MEDICAL HISTORY; MICROCEPHALY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OTORHINOLARYNGOLOGY; OXYGEN MASK; OXYGEN NASAL CANNULA; OXYGEN THERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESTLESSNESS; SEVERE METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; SUPPOSITORY; THORAX RADIOGRAPHY; VEIN THROMBOSIS; VOCAL CORD DISORDER; BLOOD EXAMINATION; BRAIN; CEREBROSPINAL FLUID; CLINICAL OBSERVATION; CLINICAL STUDY; DIAGNOSIS; DIFFERENTIAL DIAGNOSIS; GENETICS; HOMOCYSTEINE BLOOD LEVEL; HYPERHOMOCYSTEINEMIA; MYELINATED NERVE; PATHOLOGY; VASCULARIZATION;

BRAIN; CYANOSIS; DIAGNOSIS, DIFFERENTIAL; HEMATOLOGIC TESTS; HUMANS; HYPERHOMOCYSTEINEMIA; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MICROCEPHALY; NERVE FIBERS, MYELINATED; VENOUS THROMBOSIS;

EID: 84906924069     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMcpc1400833     Document Type: Article

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