Atypical Presentation of Celiac Disease in a Girl with Epilepsy and Retinopathy – Albanian Case
American Journal of Psychiatry and Neuroscience
Volume 5, Issue 6-1, November 2017, Pages: 51-51
Received: Oct. 10, 2017; Accepted: Oct. 12, 2017; Published: Oct. 13, 2017
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Authors
Aferdita Tako, Department of Pediatrics, University Hospital Center “Mother Teresa”, Tirana, Albania
Mira Dervishi, Department of Pediatrics, University Hospital Center “Mother Teresa”, Tirana, Albania
Sonila Tomori, Department of Pediatrics, University Hospital Center “Mother Teresa”, Tirana, Albania
Aida Bushati, Department of Pediatrics, University Hospital Center “Mother Teresa”, Tirana, Albania; Department of Pediatrics, University of Medical Sciences, Tirana, Albania
Paskal Cullufi, Department of Pediatrics, University Hospital Center “Mother Teresa”, Tirana, Albania; Department of Pediatrics, University of Medical Sciences, Tirana, Albania
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Abstract
Aims: To report a case with celiac disease in a girl presented with epilepsy, behavioural disorder and retinal dystrophy.
Method: E.B. was hospitalised at age 11 with convulsive seizure (the third in a year) and irritable mood, hyperactivity, school refusal and eating problems. She was born in term with APGAR score 9/10 and weight 2800 gr. Her infancy and early childhood passed normally besides being a picky eater, not an easy child to obey and sleeping difficulties. When she got 8 years started to have decreased in vision, sleep disturbances, irritable mood and an iron deficiency anaemia was present. A year later she suffered night blindness and was diagnosed with conic retinal dystrophy. The molecular biology test resulted negative. At age 10 she had her first convulsive seizure early in morning as left hemi convulsion generalised secondarily. Her sleep patterns were dominated by sleepwalking episodes mostly around 2 hours after falling asleep associated with fear and psycho-motor agitation. She started to have nightmares and inability to remember these episodes. MRI scan without contrast resulted normal and she started treatment with carbamazepine 400 mg/daily. Five months later she had her second convulsive seizure with the same convulsive pattern: starting as hemi convulsion and afterwards generalised secondarily. EEG resulted in diffuse slow waves at fronto-temporal region. Gastrointestinal symptoms were constipation and abdominal discomfort.
Results and Discussion: Laboratory tests showed the following:

It was confirmed celiac disease and she started a gluten free diet and continued anti-epileptic medication switched to valproic acid. Immunoglobulin 100% IgG (Intratec) I/V was given during hospitalisation 2gr/kilo/day in 5 consecutively days.
Conclusion: Celiac disease has intestinal and extra-intestinal manifestations, caused by immune alterations or by nutrient malabsorption. The ophthalmic symptoms are rare within the extra intestinal manifestations, but should be investigated in patients with celiac disease and taken into consideration as the first systemic manifestations of the disease. Epilepsy, vitamin D&A deficiency, ophthalmologic manifestation in celiac disease are strongly correlated with an autoimmune pathway. Important for treatment consideration are gluten free diet, oral retinol and vitamin D daily, antiepileptic drugs and immunotherapy.
Keywords
Celiac Disease, Retinal Dystrophy, Behavioural Disorder, Epilepsy, Autoimmune Pathway
To cite this article
Aferdita Tako, Mira Dervishi, Sonila Tomori, Aida Bushati, Paskal Cullufi, Atypical Presentation of Celiac Disease in a Girl with Epilepsy and Retinopathy – Albanian Case, American Journal of Psychiatry and Neuroscience. Special Issue: “In and out of Your Mind” Abstracts of 1st Eastern European Conference of Mental Health. Vol. 5, No. 6-1, 2017, pp. 51-51. doi: 10.11648/j.ajpn.s.2017050601.61
Copyright
Copyright © 2017 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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