Guillain-Barre syndrome in three siblings less than 2 years old

Article Abstract:

The Guillain-Barre syndrome, also known as polyradiculoneuritis, is a condition characterized by inflammation of several nerves, increasing muscle weakness in the arms and legs that may result in paralysis, and increased levels of protein in the cerebrospinal fluid surrounding the brain and spinal cord. This disorder may develop after infection, or rarely after immunization with the influenza vaccine. Cases are described of three siblings who developed the Guillain-Barre syndrome at two years, 22 months, and 9 months of age. The parents of the children were second cousins, and two other siblings were normal. The first case was a boy who had difficulty swallowing, progressive weakness, and fever. Despite treatment with corticosteroids and intravenous administration of fluids, the child died six days after being admitted to the hospital. Death may have resulted from an inability to breathe due to paralysis of the respiratory muscles. The second case involved a girl, and was characterized by weakness of the lower limbs, inflammation of the pharynx, sleepiness, an unstable gait, and abnormalities of nerve function. The child improved without treatment within a week after admission, and she appeared to have no nerve defects two years later. The last case involved a boy who developed respiratory failure, general weakness, fever, and nasal discharge. He had almost complete paralysis of the extremities, elevated levels of protein and glucose in the cerebrospinal fluid, antibodies against proteins of the central nervous system, and severe nerve damage. The infant was taken off mechanical ventilation at 40 days. He improved slowly, and at 3.5 years of age he was still unable to stand or walk without support. The factors that may contribute to the development of the Guillain-Barre syndrome are discussed. The findings suggest that genetic factors may have contributed to the development of Guillain-Barre syndrome in these three siblings. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Case studies, Causes of, Pediatric diseases, Guillain-Barre syndrome, Syndromes in children, Syndromes, Consanguinity

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Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

Article Abstract:

Two unrelated, mentally retarded boys suffering from recurrent severe infections were diagnosed with the newly-described disorder, type 2 leukocyte adhesion deficiency syndrome. Both boys were exceptionally short and had a distinctive facial appearance and the very rare Bombay blood type. Family histories suggest the disorder is inherited. The recurring bacterial infections, mainly pneumonia and a few others, were characterized by high counts of leukocytes, a type of white blood cell. Studies of the boys' neutrophils, a kind of leukocyte, found that the cells did not aggregate properly or adhere to the walls of blood vessels. This is characteristic of leukocyte adhesion deficiency. These patients, however, had normal expression of a neutrophil subunit known as CD18. However, they lacked a neutrophil glycoprotein called Sialyl-Lewis X that binds the neutrophil to cells in blood vessel walls.

Physiological aspects, Genetic disorders, Neutrophils

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Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

Article Abstract:

A study was conducted on 99 Ashkenazi Jews to find out whether mutations in the glucocerebrosidase (GBA) gene are relevant to idiopathic Parkinson's disease. Results suggest that heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease.

Science & research, Care and treatment, Research, Enzymes, Parkinson's disease, Parkinson disease, Ashkenazim, Hydrolases

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