Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.

Objectives: To study clinical response to treatment with enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) in a cohort of Gaucher disease.

Methods: Retrospective data of 8 patients of Gaucher disease was compiled. The treatment included all three currently available enzyme replacement therapies as well as substrate reduction therapy with Eliglustat.

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.

Antenatally detected occipital encephalocele and polycystic kidneys are a common presentation of ciliopathies like Joubert syndrome and Meckel Gruber syndrome which have considerable genetic and phenotypic overlap. We describe 3 cases of antenatally diagnosed occipital encephalocele and enlarged kidneys with fetal autopsy, histopathology & exome sequencing results. A novel nonsense variant in the CEP290 gene was reported in first case (Meckel syndrome).

Fetal left ventricular diverticulum presenting as dysrhythmia: diagnosis and management.

Congenital diverticulum of the left ventricle is a malformation, often associated with midline thoraco-abdominal defects. Here we describe a case of isolated congenital left ventricular diverticulum that presented with an abnormal four-chamber view and fetal dysrhythmia on ultrasonography. Maternal digoxin therapy was started due to significant ventricular ectopy.