Category: S

Steinert myotonic dystrophy is also known as myotonic dystrophy. It is transmitted via an autosomal dominant in¬ heritance and is the most common form of muscle disease. It is a multisystem disease typically affecting other tissues as well as skeletal and smooth muscles. This disorder can affect the eyes, heart, endocrine system, and central nervous…

Pediatric spinal cord injuries involve severe damage to the spinal cord in children from birth to 15 years. The injury can result in a loss of both mobility and feeling. It is estimated that there are approximately 8,000 to 10,000 new cases of spinal cord injuries each year. These injuries tend to be less common…

Spielmeyer-Vogt disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). Also known as Speilmeyer-Vogt- Sjogren-Batten disease or Batten disease after a British pediatrician who first described it in 1903. Spielmeyer-Vogt disease is an autosomal recessive disorder. Therefore, when both parents carry the gene, their children have…

Smith-Opitz syndrome, better known as Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive syndrome characterized by multiple congenital anomalies, mental retardation, behavioral difficulties, and characteristic dysmorphic facial features. SLOS is a relatively common inborn error of metabolism caused by deficient activity of the enzyme needed to catalyze cholesterol.  

Smith-Lemli-Opitz syndrome (SLOS) is a rare, heritable disorder characterized by growth deficiency, facial abnormalities, genital malformations (ambiguous genitalia in males) and severe mental retardation. Two distinct clinical forms of SLOS have been described.  

Sly syndrome (mucopolysaccharidosis Type VII [MPS VII]), is the rarest mucopolysaccharidoses lysosomal storage diseases (National Organization for Rare Disorders [NORD], 2000), but has the widest effects. Types I (neonatal) and II (early onset) have severe effects, whereas Type III (late onset) has milder ones. In all types, deficiency of the enzyme beta-glucuronidase leads to an…

Sleepwalking, also referred to as somnambulism, is a fairly common problem among children. It involves sitting, walking, or performing other routine behaviors while asleep. Although the individual who sleepwalks typically has his or her eyes open and avoids bumping into objects, there is no indication of awareness. Sleepwalking episodes, which last from 5 to 30…

Sleep terror, also referred to as night terror, is an episode of sudden extreme fright and panic during the night. The individual is abruptly awakened from sleep and emits a piercing scream. Yelling and incoherent verbalizations are common, but the individual is amnestic for the event. Sleep terrors usually occur during the first hour of…

Singleton-Merten syndrome is defined by Edward B. Singleton and David F. Merten (1973) as a syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal definition. It involves the unusual clinical features of abnormalities in, loss of, or absences of permanent teeth; calcium deposits on the aorta; and progressive diminution of…

Short-chain acyl coa dehydrogenase (SCAD) deficiency is an extremely rare inherited mitochondrial fatty acid oxidation disorder first reported in 1987. SCAD has been identified in only a few patients with highly variable clinical features, including (a) a lethal neonatal syndrome; (b) psychomotor retardation, muscle weakness, microcephaly, and poor feeding, all appearing during infancy; and (c)…