Sporadic Liddle’s Syndrome

Sporadic Hyperekplexia Plus Syndrome

A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Ma...

Poland Anomaly, a Sporadic Syndrome: a Review

The Gorlin-Goltz syndrome: a sporadic case

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant hereditary disorder; which is characterized by numerous basal cell carcinomas, maxillary keratocysts and bones malformations. It results from a mutation of the PATCHED gene. The estimate incidence for a general population is 1/50000 to 1/150000. We present a 30 year-old woman, with no similar famil...

Sporadic Kindler Syndrome with a novel mutation*

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The...

Epidemiology of familial and sporadic restless legs syndrome in Iran.

Restless legs syndrome is one of the most common sleep and movement disorders. For lack of sufficient information on this syndrome in Iran, this study was conducted at Alzahra Hospital, Isfahan, Central Iran, to determine the epidemiology of idiopathic, familial and sporadic forms of the syndrome. From September 1999 to April 2003, 61 patients in two groups were selected. A questionnaire with e...