Hyperexplexia or stiff baby syndrome

Article Abstract:

The stiff baby syndrome, also referred to as hyperexplexia, is a rare genetic nerve disorder, characterized by permanent hypertonia, or increased muscle tone, which is intensified by slight stimuli. The diagnosis of stiff baby syndrome can be confirmed by assessing the electrical activity of the muscles, clinical examination, and family history. This condition has a good prognosis and can be treated with muscle-relaxing drugs. Hyperexplexia should be identified early to avoid an incorrect diagnosis of epilepsy, and to provide counseling to the parents of the possibility of giving birth to another child with this condition. Early diagnosis also enables the family to monitor the newborn for periods of apnea, or the cessation of breathing, which are characteristic of hyperexplexia in young infants. Hypertonia occurs at birth and becomes less pronounced during the first year of life, but may result in repeated falls. A muscular stiffness results in a fetal-like position at birth, in which the forearms and legs are flexed and the fists are closed. The child tends to have a fixed stare which mirrors an expression of anxiety. The hypertonia is associated with apnea, digestive problems such as vomiting, and various types of hernia. The muscles are often electrically active, and children with this syndrome tend to show delayed motor development. The stiff baby syndrome may be confused with other nerve-related diseases characterized by increased muscle tone. These include the stiff man syndrome, the Isaacs-Mertens syndrome, the Jumping Frenchman of Maine syndrome, Gilles de la Tourette's syndrome, and other conditions. Various mechanisms have been proposed to explain the hyperexplexia. The drug diazepam (Valium) relaxes muscles and thereby decreases the heightened muscle tone. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abnormalities, Diagnosis, Muscles, Muscle diseases, Muscular diseases

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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

Article Abstract:

A newly identified hereditary disease, recently found in four girls, is characterized by severe neurological symptoms and complex biochemical abnormalities. The central and peripheral nervous system, the retina (the inner lining of the eye), liver, bone, adipose (fat) tissue, and sex organs are affected. Patients develop abnormalities in glycoproteins, which are complexes of glucose and proteins; glycopeptide hormones, which contain glucose and protein; and lipids, or fat substances. The most pronounced abnormality is increased levels of the cathodal, or negatively-charged, form of transferrin, a protein in the blood that binds and transports iron. The carbohydrate composition of various forms of transferrin was analyzed. Patients with this new syndrome had a 10-fold increase in blood levels of abnormal forms of transferrin. All of the fathers and one of the mothers had similar findings. Two abnormal forms of transferrin were present in equal amounts in these patients, and accounted for 50 percent of all transferrin. Transferrin exhibited deficiencies in the carbohydrates sialic acid, galactose, and N-acetylglucosamine, although the mannose content was normal. These results suggest that two or four trisaccharides located at the terminal portion of the transferrin molecule may be absent in patients with this newly identified syndrome. This defect may result from abnormalities in production or breakdown of the trisaccharide. These studies may help to determine the metabolic deficiency associated with this syndrome. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Physiological aspects, Transferrin, Genetic disorders

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Blue breath holding is benign

Article Abstract:

This article responds to a previous report by Southall and colleagues which discussed 51 cases of infants and young children who repeatedly fainted following breath holding with cyanosis (blue skin color), of whom eight died suddenly. This previous article suggested that these episodes could be severe and fatal, and possibly were due to problems in neurological development or lung structure. Aggressive, rather than conservative, treatment was recommended for these severe cases. The present article reviews the different types of fainting spells which may occur in infants and suggests that most are benign. Breath holding attacks generally are considered to do no harm, and a major part of treatment is to reassure parents about the harmless nature of the attacks. The cases reported by Southall are then analyzed to determine if they really are descriptive of typical breath holding attacks. The author then reviews other studies of breath holding spells and discusses possible mechanisms underlying these episodes. It is suggested that the cases reported by Southall were not appropriately interpreted, and it is not likely that breath holding is fatal in otherwise healthy children. Further research on the physiology underlying breath holding is needed. The article is followed by a rebuttal by Samuels, Talbert, and Southall, who suggest that their patients represent the most serious cases of breath holding, for which aggressive treatment is indeed appropriate. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Sudden infant death syndrome, Cyanosis in children, Cyanosis

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