A rare case of Joubert syndrome
Journal Title: International Journal of Medical Science and Public Health - Year 2017, Vol 6, Issue 7
Abstract
Joubert syndrome (JS) is autosomal recessive inherited disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability with distinctive mid-hindbrain malformation (molar tooth sign), ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cyst, and hepatic fibrosis. In our case, 7-year-old female child presenting with convulsion, both eye nystagmus, right eye exotropia, left eye ptosis, both eye papilloedema, developmental delay, magnetic resonance imaging brain suggestive “molar tooth appearance” of cerebellar peduncles, and “Bat wing appearance” of the prominent fourth ventricle. Chest X-ray showing cardiomegaly and C-reactive protein positive. The aim of our study is diagnosis and management of patient with JS and increase awareness about this disease and manage it as early as possible and prevent serious complication like visual impairment.
Authors and Affiliations
Jigna R Patel, Vinay Patel, Harish Trivedi, Nilesh Parekh
Keywords
Related Articles
- EP ID EP317650
- DOI 10.5455/ijmsph.2017.0411304052017
- Views 90
- Downloads 0
Disordered eating attitudes among secondary schoolgirls in Al-Iskan sector, Makkah Al-Mukarramah, Saudi Arabia
Background: A growing number of individuals are showing inappropriate eating behaviors and attitudes without having severe forms. Early and prompt recognition of mild forms can prevent the severe ones. Objective:...
Typical findings of epidemiological and clinical characteristics of patients with coronary artery diseases in South India: a retrospective analysis
Background: Cardiovascular disease (CVD) remains a major cause of morbidity and death not only in developed countries but also in developing countries. The associated risk factors which have been linked to CVD include di...
Morbidity and mortality trend and pattern of cancer in newly started cancer unit of tertiary care hospital in Bilaspur, Chhattisgarh
Background: Cancer affects all communities worldwide. Approximately 12.7 million people were diagnosed with cancer and more than 7.6 million died in world during 2012. Cancer has become one of the 10 leading causes of de...
A study on reasons for nonadherence to 99DOTS among HIV-tuberculosis coinfected patients in Davanagere district, Karnataka
Background: Ensuring the patient’s adherence is the critical challenge in tuberculosis (TB) treatment. To monitor the adherence to anti-TB drugs in HIV-TB coinfected patients, 99 directly observed treatment short (99DOTS...
Effect of intravenous iron sucrose therapy for moderate-to-severe anemia in pregnancy: A longitudinal study
Background: Anemia is one of the major public health problems in the developing countries. More than 70% of pregnant women in Southeast Asian region have nutritional anemia, which affects both the mother and the newbor...