The symptoms of a 15-year-old girl with a rare disorder improved dramatically after just one day of treatment with the B vitamins biotin and thiamine administered by Great Ormond Street Hospital (GOSH).
The teenager’s own story - an account of how she felt when her distressing symptoms began - is published in a British Medical Journal Case Report, along with a report of her diagnosis and treatment by her consultant Dr Shamima Rahman.
On a family holiday to Thailand, the previously healthy 15-year-old girl started to feel tired. Her fatigue continued when she returned to the UK and she started napping during the day. At school, a classmate noticed that the girl’s eyelids were drooping, a symptom which persisted and led her mother to seek medical advice.
Assessments by her GP, local hospital and ophthalmologists failed to find the cause of her ‘heavy’ eyelids, which were better in the morning or after a nap. The teenager began to experience difficulties in swallowing saliva, vomiting, and a sensation of incomplete bladder emptying. Her parents noticed that she was walking slowly and that she seemed to be exhausted after a few hours of being awake.
Following her referral to GOSH, the teenager underwent a series of scans and blood tests which revealed encephalopathy – brain disease – in a pattern that was most suggestive of a mitochondrial disorder. Whilst most mitochondrial disorders cannot be treated, in this case the patient’s symptoms improved almost immediately after she was given biotin (vitamin B7) and thiamine (vitamin B1), suggesting that she had a rare genetic condition known as biotin-thiamine responsive basal ganglia disease (BTBGD). Gene sequencing confirmed this diagnosis.
Dr Shamima Rahman, Reader and Honorary Consultant in Paediatric Metabolic Medicine at GOSH, says:
“Biotin–thiamine responsive basal ganglia disease is a treatable condition which is difficult to distinguish from Leigh syndrome and similar mitochondrial diseases, for which no cures exist and the prognosis is frequently poor. However, it is important to diagnose and treat BTBGD early, to prevent permanent brain damage or death. Early intervention can halt the progression of symptoms and can reverse the damage done to the brain.
“In the case of this patient, we were able to diagnose and start treatment at an early stage, and I’m delighted to hear that she is currently doing well at school.”
Writing in the BMJ Case Report, the 15-year old GOSH patient said (extracts from the full version):
“….The next day, I noticed that my eyelids had gotten lower and they would not come back up again. I was scared because I thought I had an eye infection and I had a GCSE geography field trip the next day. I came home, and my mother took me straight to my local GP. They referred me to the nearest accident and emergency department. I was worried and confused as to how they did not know what was wrong and worried that I could not attend my field trip, which could affect my grades.
“…A few weeks passed, and I remained in bed for most of it, as my eyelids would come up after a night’s sleep or an afternoon nap. I felt like I was in a continuous cycle of not knowing what was happening, and I kept my feelings bottled up because I wanted my parents to know that I was not scared when in actual fact I was terrified. Terrified that my eyes may never look the same again. Terrified of the looks I would get from people when I stepped out of my house.
“…Another week passed, and my mum got a call from Great Ormond Street. They said that they might be able to get me in so they could do some tests so they might be able to find out what was happening. I felt happy. I thought that I would be well. I stayed in hospital for a week and had numerous tests, including a muscle biopsy. The day after my muscle biopsy, the hospital gave me some vitamins to see if they could find out what was causing my eyelids to droop.
“…Seven months later, Great Ormond Street had found a diagnosis. I had biotin thiamine responsive basal ganglia disease, which explains why my eyelids had come up after I had some of the dosage of the full medication. I now feel better and more relieved that I now have a diagnosis and I know that the vitamins are making a difference.”
For further information, please contact Jenny Gimpel at the GOSH-ICH press office on + 44 (0)20 7239 3039 or email@example.com.
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Notes to Editors
‘Treatable Leigh-like encephalopathy presenting in adolescence’, by Fassone et al, is published online on Tuesday 8 October 2013 as a British Medical Journal Case Report.
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