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 85
- Downloads 0
Carcinoma of penis in India: A study of 50 cases
Background: Carcinoma of the penis is quite common in our country. Its incidence may be linked to racial, cultural, and socioeconomic factors. In view of this, it would be interesting to study the incidence, behavior o...
Morbidity profile of HIV-exposed formula-fed infants at 6 weeks of age in a resource-constrained tertiary hospital in Jos, Nigeria
Background: Despite the benefits of breastfeeding as against the risk of formula feeding to HIV-exposed infants and proficient counseling to HIV seropositive mothers, some may still opt for breast milk substitutes. K...
Epidemiological study of proximal femoral fractures in tertiary-level institute
Background: Aging is a natural process, which no one can defy. As the population continues to age, the number of proximal femoral fractures will increase exponentially. Proximal femoral fractures in younger individua...
Study of clinico-epidemiological profile, drug utilization pattern, and outcome of swine flu cases: A recent epidemic in Latur
Background: Swine flu, an acute respiratory tract disease, is caused by swine flu virus. The World Health Organization (WHO) declared the H1N1 pandemic in June 2009 after more than 70 countries reported cases of H1N1 inf...
An epidemiological study of self-medication among urban adults of Aligarh
Background: Self prescribing is usually defined as “medication that is taken on the patient’s own initiative or on the advice of a pharmacist or lay person.” In developing countries like India, private pharmacies are the...