objective incontinentia pigmenti (ip) (bloch_sulzberg syndrome) is a rare neurocutaneous syndrome characterized by multisystemic involvement that is prenatally lethal in the majority of affected males and shows great clinical variability when expressed in women. the diagnosis of ip is performed based on clinical features and the family history with the support of histological findings. we repor...

Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon combined müllerian duct anomalies (MDAs) and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. ...

melas syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or c.s.f. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in muscl...

triple a syndrome (allgrove syndrome) is a rare inherited autosomal recessive disease with a typical triad including adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia and a wide range of symptoms can be detected due to multi organ involvement. this report describes the case of a triple asyndrome, a12 year-old boy with a histo...

introduction and objective: alport’s syndrome (hereditary nephritis with deafness) is a familial uncommon disease that ultra-structural studies are gold standard method of its diagnosis. materials and methods:we studied 26 iranian patients suspicious of alport’s syndrome by electron microscopy. we examined 19 men and 7 women (male to female ratio was 2.7) and the average age was 1.5 years (with...

''Malignant Hypothermia'' syndrome is a rare, but dangerous occurrence, the aetiology of which is not known. Up to this date 180 cases have been reported. This syndrome i's seen generally in :male children over age of two years, and especially in adolescent males. Also those people with muscular abnormalities are more susciptable to this illnes'S. Anaesthetic agent such as halothane or muscular...