Sinus Pericranii: a case report and review of literature.

Normally, there is no obvious communication between the intracranial and extra cranial venous drainages in the head. In Sinus Pericranii, there is an abnormal communication, either from the extra cranial system to the intracranial venous sinuses or from the intracranial venous system to the extra cranial draining veins. Venous anomaly is a collection of non muscular venous blood vessels, adhering tightly to the outer surface of the skull and directly communicating with an intracranial venous sinus through diploic veins. The varicosities are intimately associated with the periostium, are distensible, and vary in size with changes in intracranial pressure Sinus pericranii is not a single clinico pathologic entity, rather a symptom complex with diverse clinical manifestations.In this article,the authors present a case of 8 mo old boy having Sinus Pericranii.

Kearns Sayre Syndrome--case report with review of literature.

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age of twenty. Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features. Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA.