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A 2-day-old boy was admitted to the special care nursery of this hospital because of hypotonia.
He was delivered at another hospital to a 40-year-old mother (gravida 2, para 2) at 38 weeks and 6 days of gestation by a scheduled cesarean section, which was the mother's second. The pregnancy was uneventful, and tests for rapid plasma reagin, hepatitis B surface antigen, and group B streptococcus were negative in the mother. Her blood type was A positive, with negative results on antibody screening, and she was immune to rubella. Fetal movements during the pregnancy were normal.
The delivery was uncomplicated,
Differential Diagnosis
Abnormalities of the CNS and Peripheral Nervous System
The Neuromuscular Junction
Congenital Abnormalities of the Skeletal Muscle
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy with Markedly Abnormal CNS Development
Congenital Muscular Dystrophy with Minimally Abnormal CNS Development
Merosin-Deficient Congenital Muscular Dystrophy
Clinical Diagnosis
Dr. Robert H. Brown, Jr.'s Diagnosis
Pathological Discussion
Anatomical Diagnosis
Source Information
From the Departments of Neurology (R.H.B.) and Radiology (P.E.G.), Massachusetts General Hospital; the Department of Pathology, Children's Hospital (C.R.P.); and the Departments of Neurology (R.H.B.), Radiology (P.E.G.), and Pathology (C.R.P.), Harvard Medical School — all in Boston.
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