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Hollywood Exec's Near-Death Story Tells Power of ResilienceJonathan Koch was in peak physical condition when, within 48 hours, a rare disease nearly took his life. He urges physicians not to underestimate what a motivated patient can do to survive.
Psychotic Behavior and Loss of Speech in a 34-Year-Old Woman A 34-year-old woman has a 4-year history of psychotic behavior and neurocognitive decline. She has also demonstrated progressive motor regression and loss of speech. What's the diagnosis?
Young Girl With Clumsiness, Dystonia, and Speech Difficulty A 17-year-old girl who has demonstrated progressive clumsiness over the past 6 months now displays dystonic movement of her limbs and deteriorating speech and ability to walk. What's the diagnosis?
A 49-Year-Old Man With Pain at the Site of a Previous Fracture A 49-year-old man with a history of cervical spine fracture, diabetes mellitus, and hearing loss presents with increasing pain at the site of a previous femoral fracture. What's the diagnosis?
Conditions in Focus
Mucopolysaccharidosis type II MPS II, also known as Hunter syndrome, is a member of a group of inherited metabolic disorders collectively termed the mucopolysaccharidoses (MPSs). The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation of mucopolysaccharides or glycosaminoglycans (GAGs). Eleven distinct single lysosomal enzyme deficiencies are known to cause 7 different and recognized phenotypes of MPS. All of the MPSs are inherited in an autosomal recessive fashion, except for Hunter syndrome, which is inherited as X-linked recessive.
Paroxysmal Nocturnal Hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, debilitating disorder that most frequently presents in early adulthood and usually continuous throughout the life of the patient. PNH results in the death of approximately 50% of affected individuals due to thrombotic complications and, until recently, had no specific therapy...
Arginase Deficiency A history of delayed development, protein intolerance, and spasticity is suggestive of arginase deficiency. The typical presentation is that of an older infant whose development is delayed, who has occasional episodes of vomiting and somnolence without apparent cause, who is protein intolerant, and who shows evidence of long-tract neurological impairment.
