A 17-month-old girl presented with regression of her receptive language skills and motor skills such that she could not walk.

A 17-month-old girl presented with regression of her receptive language skills and motor skills such that she could not walk. She continued to regress to the point where she was blind and could no longer swallow. She developed seizures. Her MRI, shown here, demonstrates symmetrical hyperintensity of the periventricular white matter and enhancement of the trigeminal nerve as shown by the arrow. Which of the following diagnostic tests is most likely to reveal the diagnosis?

A. Mutation in the HEXA gene

B. Mutation in the SMPD1 gene

C. Increased lactate/pyruvate ratio

D. Decreased galactocerebrosidase activity

E. Decreased arylsulfatase A enzyme activity

Best Custom Essay Writing Services | EssayBureau.com

find the cost of your paper

You have recently been appointed as an Adviser to Rukhsana Davison, Director of the OrganicToy Company. She is considering moving her business to online. Currently the businessoperates from a bedroom….

Choose a clinical deterioration case from your practice and present the case using Levitt-Jones’ Clinical Reasoning Cycle appropriately

The purpose of this assessment task is to provide students with the opportunity to demonstrate their comprehension of the introductory theoretical components of your area of specialisation. Students are given….

In relation to a tourism development activity in your area, identify the main types of socio-cultural impact.

1 In relation to a tourism development activity in your area, identify the main types of socio-cultural impact. What characteristics do they exhibit? Arrange these impacts under the headings of….