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Case Records of the Massachusetts General Hospital
Weekly Clinicopathological Exercises
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Volume 347:672-680 August 29, 2002 Number 9
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Case 27-2002 — A 5 1/2-Year-Old Boy with Seizures and Progressive Deterioration of Cognitive and Motor Function
Robert S. Rust, and Diane Karluk

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Presentation of Case

A 5 1/2-year-old boy was admitted for video electroencephalographic monitoring to investigate his seizures.

The boy had been born to a 21-year-old woman by spontaneous vaginal delivery after an uncomplicated, full-term, second pregnancy. He sat up at nine months of age and walked at one year. At 18 to 24 months, his vocabulary was noted to be limited, his speech difficult to understand, and his intellect inferior to that of his 7-year-old brother at those ages. His only illnesses were repeated bouts of tonsillitis, which led to a tonsillectomy at the age of four years. Between the ages of two . . . [Full Text of this Article]

Differential Diagnosis

Cherry-Red Spots

Diseases That Can Be Ruled Out

Subacute GM2 Gangliosidosis and Group C Niemann–Pick Disease

Gaze Difficulties

Visual-Field Restriction

Neuronal Ceroid Lipofuscinosis

Clinical Diagnosis

Dr. Robert S. Rust's Diagnosis

Pathological Discussion

Anatomical Diagnosis


Related Letters:

Case 27-2002: Late-Onset Infantile Neuronal Ceroid Lipofuscinosis
McBride K. L.
Extract | Full Text | PDF  
N Engl J Med 2003; 348:2159, May 22, 2003. Correspondence

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