Joubert syndrome: Case report of three affected siblings
Journal Title: Indian Journal of Child Health - Year 2017, Vol 4, Issue 2
Abstract
Joubert syndrome (JS) is a rare autosomal recessive disorder that has variable phenotype but characteristic magnetic resonance imaging (MRI) findings. “Molar tooth” appearance of cerebellar peduncles and “bat-wing” appearance of the fourth ventricle are the classically described MRI findings. Herein, we describe JS in three siblings, products of a second-degree consanguineous marriage, who presented with developmental delay, abnormal eye movements, and impaired vision. The axial MRI in all three siblings revealed the classic MRI findings described in the JS.
Authors and Affiliations
Lt Col Saikat Bhattacharjee, Lt Col Suprita Kalra, Lt Col Preema Sinha, Col Samar Chatterjee
Keywords
Related Articles
- EP ID EP454933
- DOI -
- Views 95
- Downloads 0
Clinical profile of children with pneumonia admitted at tertiary care hospital, Belgaum: A prospective study
Background: Acute respiratory infections (ARIs) are a public health problem in India. Timely intervention, correct treatment, and referral service can save many deaths, particularly pneumonia. Objective: This study aimed...
Nutritional rickets - A hospital-based study from Southern Kerala
Objective: The aim of this study is to find the characteristics of nutritional rickets and the proportion of cases diagnosed prospectively. Methods: Details of 54 cases of nutritional rickets in the age group of 1 month-...
Serologic status at 10 months of infants born to hepatitis B positive mothers given prophylaxis - A prospective cohort study
Rationale: Perinatal exposure is the most common mode of transmission of hepatitis B (HB) infection in neonates. Prevention of perinatal transmission of HB is important to decrease overall carrier state. Objectives: To e...
Enteric appendicitis: An unusual complication of enteric fever
We present an 11-year-old boy admitted with fever, loose stools, vomiting, diffuse abdominal pain, and hepatosplenomegaly. Ultrasound and contrast enhanced computerized tomography of the abdomen was suggestive of appendi...
Assessment of knowledge, attitude and practice of antenatal mothers on child’s immunization in Raichur district, Karnataka
Objectives: To assess the knowledge, attitude and practice (KAP) of antenatal mothers on child’s immunization and to know the factors affecting the completeness of vaccination and coverage. Design: A questionnaire based...