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Case Report

Celiac Disease with Balanced Translocation


Vivek Kumar1, Vimal
Upreti 2 Abstract
1
Department of Pediatrics
and Pediatric Cardiology, Celiac disease is an autoimmune disorder of the small intestines. It may be associated
2
Department of Medicine with chromosomal syndromes like Downs, Turner and Williams syndrome. However,
and Endocrinology, Army its association with a balanced translocation has never been described to our
Hospital (Research & knowledge. We report a case of a female child who during evaluation for short
Referral), Delhi Cantt. stature was found to have celiac disease. Genetic testing later revealed a balanced
Correspondence to: Dr. translocation 8; 17. She responded satisfactorily to the dietary therapy of celiac
Vivek Kumar, Army Hospital disease.
(Research & Referral), Delhi
Cantt-110010. Keywords: Celiac disease, Balanced translocation.
E-mail Id:
vk3532@gmail.com Introduction
Celiac disease is an autoimmune disorder of the small intestine that occurs in
genetically predisposed (HLADQ2 and DQ8 association) people of all ages from
middle infancy onward.1 It is triggered by the ingestion of wheat gluten and related
prolamines of barley and rye.2 This disease may be associated with some
autoimmune disorders like Type-1 diabetes, autoimmune thyroiditis and
chromosomal syndromes-Downs, Turner and Williams syndrome. But its association
with any balanced translocation has never been reported to the best of our
knowledge. We describe a never-reported association of the celiac disease with a
balanced translocation 8; 17 in a female child. Child showed a steady improvement in
height on dietary therapy of celiac disease.

Case Report
A 7-year-old girl child, first product of a non-consanguineous marriage, presented to
us with a history of not gaining height as compared to her peers. Otherwise she was
asymptomatic. She was born full-term normal institutional delivery with a
birthweight of 3 kg and had no perinatal adverse event. She was exclusively breast-
fed till 6 months of age followed by complementary feeds. Her protein and caloric
intake were adequate for present age.

She had no history of contact with TB, chronic wheeze/ cough, cyanosis, chronic
diarrhea, recurrent vomiting, jaundice, recurrent urinary tract infection or polyuria.
Historically, her family dynamics appeared normal. Her pedigree had no genetic
disorder including celiac disease. Her younger sibling was a 4-year-old male child who
was thriving and growing well. On examination, her weight was 18 kg (81% of 50
centile of NCHS standard), height 100 cm (84% of 50 centile NCHS standard severe
stunting). She had mild pallor. There was no cyanosis, clubbing, generalized
lymphadenopathy or pedal edema. There were no other signs of malnutrition or
How to cite this article: dysmorphic features. Systemic examination was unremarkable. Investigations
Kumar V, Upreti V. Celiac showed hemoglobin of 10 g/dL, normal blood counts and urine analysis. Peripheral
Disease with Balanced blood smear showed microcytic hypochromic anemia. Liver and renal function tests
Translocation. J Adv Res Med were normal. Radiograph showed bone age to be 5-6 years. Thyroid function was
2016; 3(1): 15-17. within normal limits. Growth hormone basal was 2 ng/mL and post-stimulation with
clonidine was 4.2 ng/mL (>5 ng/mL), insulin like growth factor-1 (IGF-1) was 50 ng/mL
ISSN: 2349-7181
(52-450 ng/mL for 5-10 years). MRI brain for pituitary was normal. Based on above
evaluation, she was diagnosed as a case of isolated growth hormone deficiency.

© ADR Journals 2016. All Rights Reserved.


Kumar V et al. J. Adv. Res. Med. 2016; 3(1)

She was started on recombinant growth hormone @ 0.2 histopathological findings consistent with celiac disease.
mg/kg/week (0.18-0.33 mg/kg/week) and was advised HLA typing showed DQ2 association. She was advised
to increase protein intake and do regular exercise. On gluten-free diet and supplementation with vitamins,
follow up, she showed a poor response at the end of iron and calcium. Growth hormone was stopped. At the
three months. She was advised anti-tissue end of six months, she showed increase in height by 3.5
transglutaminase test and karyotyping (to rule out cm and hemoglobin increased to 11.5 gm%. Parents
Turner mosaic). Former was 299.31 U/m mL (0.5-20) were counselled regarding the celiac disease and future
and latter to our surprise showed balanced implication of balanced translocation. Patient is growing
translocation 46XX, t (8; 17) (q13; q25) (Fig. 1). She well as per her genetic potential at one-year follow up
underwent endoscopic intestinal biopsy which showed on gluten-free diet without growth hormone.

Figure 1.Karyotype Showing Balanced Translocation (8; 17) (q13; q25)

Discussion mechanisms including malabsorption of nutrients,


resistance to growth hormone, antipituitary antibodies,
Our patient has a chance association of celiac disease autoimmune hypothyroidism and hypogonadism.5
with balanced translocation 8; 17. Over 95% of coeliac
patients have the isoform of DQ2 or DQ8, which is Diagnosis of celiac disease involves doing serology as
inherited in families. The reason these genes produce an first-line investigation. Preferred test is anti-tissue
increase in risk of coeliac disease is that the receptors transglutaminase antibodies with a sensitivity of 99%
formed by these genes bind to gliadinpeptides more and specificity of >90%.6 Positive serology is followed by
tightly than other forms of the antigen-presenting duodenal endoscopic biopsy which is considered gold
receptors. Therefore, these forms of the receptors are standard.7 Only effective treatment of celiac disease is
more likely to activate T-lymphocytes and initiate the lifelong gluten-free diet. Balanced translocation requires
autoimmune process.1 Incidence of balanced genetic counseling and prenatal diagnosis when the
translocation between non-homologous chromosomes child enters married life. This report highlights a never-
varies from 1 in 500 to 1 in 625. Carriers of balanced reported association of a well-known disease with a
translocations are usually asymptomatic but about 6% balanced translocation. Thorough literature search has
of them have a range of symptoms which may include been done but association between the two could not
autism, intellectual disability, or congenital anomalies.3,4 be found. This may be a chance association or may have
They have a risk of creating gametes with unbalanced some implication in future for the present child. More
tranlocations leading to miscarriages and chromosomal cases need to be reported and analyzed for the said
abnormalities. association. At present, clinical significance of this
translocation with celiac disease cannot be commented
Our patient presented with isolated short stature with upon.
no gastrointestinal symptom that can be mono-
symptomatic presentation of the disease. Celiac disease Conflict of Interest: None
can lead to short stature through number of

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J. Adv. Res. Med. 2016; 3(1) Kumar V et al.

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Genetics 2002; 10(12): 801-806. and Nutrition. J Pediatr Gastroenterol Nutr 2005;
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and unbalanced sperm in two translocation carriers:
Date of Submission: 22nd Feb. 2016
Evaluation of the genetic risk. Molecular Human
Reproduction 2002; 8(10): 958-63. Date of Acceptance: 02nd May 2016
5. Adams S. Growth hormone deficiency and celiac

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