Case 28-2008 -- An 8-Day-Old Infant with Congenital Deafness, Lethargy, and Hypothermia

doi:10.1056/NEJMcpc0804642

Volume 359:1156-1167		September 11, 2008		Number 11

Case 28-2008 — An 8-Day-Old Infant with Congenital Deafness, Lethargy, and Hypothermia

Kevin J. Staley, M.D., Katherine B. Sims, M.D., P. Ellen Grant, M.D., and E. Tessa Hedley-Whyte, M.D.

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Presentation of Case

Dr. Sarah M. Barnett (Neurology): An 8-day-old boy was admittedto the neonatal intensive care unit of this hospital becauseof weakness and lethargy.

The patient was born after a full-term gestation to a 26-year-oldprimigravida at a birthing center. The mother had received prenatalcare with normal screening laboratory tests, including a positivetest result for antibody to rubella and negative test resultsfor group B streptococcus, rapid plasma reagin, hepatitis C,and human immunodeficiency virus. The prenatal course was uncomplicated;the mother had no fever or other symptoms of infection, andthere was no change in fetal movement . . . [Full Text of this Article]

Differential Diagnosis

Trauma

Infection

Seizures, Toxins, and Cerebrovascular Accidents

Metabolic Disorders

Mitochondrial Disorders

Clinical Diagnosis

Dr. Kevin J. Staley's Diagnosis

Pathological Discussion

Anatomical Diagnosis

Source Information

From the Departments of Pediatric Neurology (K.J.S., K.B.S.), Radiology (Pediatric Division) (P.E.G.), and Neuropathology (E.T.H.-W.), Massachusetts General Hospital; and the Departments of Neurology (K.J.S., K.B.S.), Radiology (P.E.G.), and Pathology (E.T.H.-W.), Harvard Medical School.