Congenital neutropenia is a rare hematopoietic disease, which occurs sporadically or as an auto-somal dominant inherited disorder. Pathogenesis of congenital neutropenia can now be attributed to mutations of the ELA2 gene encoding neutrophil elastase. A child with severe congenital neutropenia with a heterozygous mutation G1887A in exon 2 of ELA2 gene is reported.

BACKGROUND/AIMS Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entities; general fibrosis syndrome, strabismus fixus, vertical retraction syndrome, and congenital fibrosis of the inferior rectus. The purpose of this s...

Congenital long QT syndrome is an inherited disorder of cardiac repolarization that predisposes to syncope and to sudden death from polymorphic ventricular tachycardia. The disorder should be suspected when the electrocardiogram shows characteristic QT abnormalities, or when there is a family history of long QT syndrome or of an event that raises suspicion of long QT syndrome, such as sudden de...

Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in SLC5A1 encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital four unrelated, consanguineous Turkish families. Early recognition timely management eliminating glucose galactose diet are fundamental for t...

A 22 year old male patient with metachromatic leukodystrophy presented in our hospital for multiple teeth extraction under general anaesthesia. Metachromatic is a rare congenital neurodegenerative disorder which predominantly affect the corticospinal tract. In this case report anaesthetic concerns and perioperative management are discussed.

sjogren-larsson syndrome (sls) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. we report a case of sjogren-larsson syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and mri findings such as seen in multiple sclerosis (ms). so this rare syndrome can be another differen...

congenital factor x deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. thromboembolic events have not been reported in patients with factor x deficiency yet. herein, we report a patient with factor x deficiency who had recurrent venous thromboembolic events.