Bilateral Papillophlebitis in a Patient with Mutation of Metilenetetrahydrofolate Reductase Enzyme

Papillophlebitis in a young Girl Secondary to homozygous mutation of mthFR c677t and a1298c Genotypes

C entral retinal vein occlusion (CRVO) in the young is also known as papillophlebitis and is a rare presentation.1 Retinal vein occlusion has been known to be associated with many systemic conditions.1,2 Association of hyperhomocysteinemia with retinal vein occlusion was reported in the literature.2-4 There was controversy, however, over whether there was correlation between methylenetetrahydro...

Methyltetrahydrofolate Reductase C677T Mutation and 4G/5G Plasminogen Activator Inhibitor-1 Polymorphism in a Child with Deep Vein Thrombosis

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...

A Novel c.4822>T Mutation on SPG11 in an Iranian Patient Marked by Hereditary Spastic Paraparesis and Skeletal Deformity: An Incidental Finding or a True Association

Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. We report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurological examination showed that he had proximal lower limbs weakness with a positive Gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle wa...

Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...