Case Report
Celiac Disease with Balanced Translocation
Vivek Kumar1, Vimal
Upreti 2
1
Department of Pediatrics
and Pediatric Cardiology,
2
Department of Medicine
and Endocrinology, Army
Hospital (Research &
Referral), Delhi Cantt.
Correspondence to: Dr.
Vivek Kumar, Army Hospital
(Research & Referral), Delhi
Cantt-110010.
E-mail Id:
vk3532@gmail.com
How to cite this article:
Kumar V, Upreti V. Celiac
Disease with Balanced
Translocation. J Adv Res Med
2016; 3(1): 15-17.
ISSN: 2349-7181
© ADR Journals 2016. All Rights Reserved.
Abstract
Celiac disease is an autoimmune disorder of the small intestines. It may be associated
with chromosomal syndromes like Downs, Turner and Williams syndrome. However,
its association with a balanced translocation has never been described to our
knowledge. We report a case of a female child who during evaluation for short
stature was found to have celiac disease. Genetic testing later revealed a balanced
translocation 8; 17. She responded satisfactorily to the dietary therapy of celiac
disease.
Keywords: Celiac disease, Balanced translocation.
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
dysmorphic features. Systemic examination was unremarkable. Investigations
showed hemoglobin of 10 g/dL, normal blood counts and urine analysis. Peripheral
blood smear showed microcytic hypochromic anemia. Liver and renal function tests
were normal. Radiograph showed bone age to be 5-6 years. Thyroid function was
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
(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.
Kumar V et al.
She was started on recombinant growth hormone @ 0.2
mg/kg/week (0.18-0.33 mg/kg/week) and was advised
to increase protein intake and do regular exercise. On
follow up, she showed a poor response at the end of
three months. She was advised anti-tissue
transglutaminase test and karyotyping (to rule out
Turner mosaic). Former was 299.31 U/m mL (0.5-20)
and latter to our surprise showed balanced
translocation 46XX, t (8; 17) (q13; q25) (Fig. 1). She
underwent endoscopic intestinal biopsy which showed
Figure 1.Karyotype Showing Balanced Translocation (8; 17) (q13; q25)
Discussion
Our patient has a chance association of celiac disease
with balanced translocation 8; 17. Over 95% of coeliac
patients have the isoform of DQ2 or DQ8, which is
inherited in families. The reason these genes produce an
increase in risk of coeliac disease is that the receptors
formed by these genes bind to gliadinpeptides more
tightly than other forms of the antigen-presenting
receptors. Therefore, these forms of the receptors are
more likely to activate T-lymphocytes and initiate the
autoimmune process.1 Incidence of balanced
translocation between non-homologous chromosomes
varies from 1 in 500 to 1 in 625. Carriers of balanced
translocations are usually asymptomatic but about 6%
of them have a range of symptoms which may include
autism, intellectual disability, or congenital anomalies.3,4
They have a risk of creating gametes with unbalanced
tranlocations leading to miscarriages and chromosomal
abnormalities.
Our patient presented with isolated short stature with
no gastrointestinal symptom that can be mono-
symptomatic presentation of the disease. Celiac disease
can lead to short stature through number of
ISSN: 2349-7181
J. Adv. Res. Med. 2016; 3(1)
histopathological findings consistent with celiac disease.
HLA typing showed DQ2 association. She was advised
gluten-free diet and supplementation with vitamins,
iron and calcium. Growth hormone was stopped. At the
end of six months, she showed increase in height by 3.5
cm and hemoglobin increased to 11.5 gm%. Parents
were counselled regarding the celiac disease and future
implication of balanced translocation. Patient is growing
well as per her genetic potential at one-year follow up
on gluten-free diet without growth hormone.
mechanisms including malabsorption of nutrients,
resistance to growth hormone, antipituitary antibodies,
autoimmune hypothyroidism and hypogonadism.5
Diagnosis of celiac disease involves doing serology as
first-line investigation. Preferred test is anti-tissue
transglutaminase antibodies with a sensitivity of 99%
and specificity of >90%.6 Positive serology is followed by
duodenal endoscopic biopsy which is considered gold
standard.7 Only effective treatment of celiac disease is
lifelong gluten-free diet. Balanced translocation requires
genetic counseling and prenatal diagnosis when the
child enters married life. This report highlights a never-
reported association of a well-known disease with a
balanced translocation. Thorough literature search has
been done but association between the two could not
be found. This may be a chance association or may have
some implication in future for the present child. More
cases need to be reported and analyzed for the said
association. At present, clinical significance of this
translocation with celiac disease cannot be commented
upon.
Conflict of Interest: None
16
J. Adv. Res. Med. 2016; 3(1)
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Kumar V et al.
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Date of Submission: 22nd Feb. 2016
Date of Acceptance: 02nd May 2016
ISSN: 2349-7181