Carpal spasm in a girl as initial presentation of celiac disease


Celiac disease (CD) is an immune-mediated disorder elicited by the ingestion of gluten and related prolamins from rye and barley in genetically susceptible persons. This disorder is characterized by specific histological changes (not pathognomonic) of the small intestine mucosa (especially proximal part) and malabsorption with consequences for growth and development delays. Due to malabsorption, it is characterized by a number of substance deficiencies such as iron, folic acid, hypoproteinemia, and hypocalcemia. 

Case Report

A 3-year-old Albanian girl, from a rural area, was admitted to the Department of Gastroenterology at the University Clinical Centre of Kosovo, due to carpal spasms and hand paresthesia; no other associated symptoms were reported. A physical examination at admission revealed a relatively good general condition; her weight was 10.5 kg (10 percentile). Carpal spasms and paresthesias of her extremities were present. Neuromuscular irritability was demonstrated by positive Chvostek and Trousseau signs.Personal and disease history: she is the fourth child in the family, from a well-controlled full-term pregnancy, with no history of drugs use or exposure to radiation. Delivery was completed in the regional hospital; she had a birth weight (BW) of 4300 gr. Retinol & cholecalciferol (AD3) prevention and vaccination were irregular. She was breastfed for 1 year, while supplementary food was introduced at sixth month of age.She had several hospitalizations in the regional hospital. The first one occurred when she was 1-year old due to generalized seizure in which carpal spasms predominated. The other hospital admissions were usually for the same signs, that is, carpal spasms; tetany resolved following intravenous administration of Ca gluconate, without performing further tests.


At the age of 3 years, due to prolonged spasms, she was referred to a pediatric clinic. Blood tests showed severe hypocalcemia, with a total serum Ca of 1.2 mmol/L, normal range (NR) 2.12 to 2.55 mmol/L, ionized Ca of 0.87 mmol/L (NR 1.11 to 1.30 mmol/L), 24-hour urine Ca excretion of 9.16 mmol (NR female <6.2 mmol/day), low serum potassium of 3.0 mmol/L (NR 3.5 to 5.5 mmol/L), magnesium of 0.40 mmol/L (NR 0.65 to 1.05 mmol/L), and phosphorus 0.57 mmol/L (NR 0.8 to 1.45 mmol/L).

Other significant results included hemoglobin 10.1 g/dL (NR 13 to 18 g/dL), mean corpuscular volume 98.1 fl (NR 82 to 98 fl), serum iron of 15 μg/dL (25 to 170 μg/dL), albumin 32 g/L (NR 34 to 48 g/L), and alkaline phosphatase 320 IU/L (NR 47 to 141 IU/L). Her serum total bilirubin, glycemia, urea, and creatinine levels were normal. Subsequent results revealed vitamin D deficiency with a low serum 25-OH vitamin D of 20 nmol/l (NR 25 to 137 nmol/L) and a raised serum parathyroid hormone of 35.6 pmol/L (NR 1.2 to 5.8 pmol/L). The results of thyroid function tests were normal: thyroid stimulating hormone 0.87 mIU/L (NR 0.35 to 4.5 mIU/L), triiodothyronine (T3) 2.69 nmol/L (0.9 to 2.8 nmol/L), and thyroxin (T4) 12.66 pmol/L (10 to 23 pmol/L).

Among other tests, screening for CD was performed, resulting l positive: antigliadin immunoglobulin A of 72.2 U/mL (cut-off 12 U/mL), anti-tissue transglutaminase IgA level of 33.9 (cut-off 10 U/ml), and anti-endomysial IgA antibodies (anti endomysium antibodies (EMA); 1:64).

An abdominal ultrasound revealed increased peristalsis, a more relaxed bowel, which was filled with liquid, and edema of the mucosa in the distal part of her digestive tract. There were no pathological findings in her liver and spleen.

In order to examine the upper part of her gastrointestinal system, a gastroduodenoscopy was performed, which revealed hyperemia in her postbulbar duodenum. Multiple biopsies were obtained during upper endoscopy, from the bulb (two biopsies) and from the second/third portion of her duodenum (four biopsies). CD was histologically confirmed by duodenal biopsies, which revealed lymphocyte infiltration, crypt hyperplasia, and villous atrophy, compatible with CD grade IIIb according to the Marsh classification.

Subsequently, genetic tests were performed that showed DQ2 heterodimer positive in cis position which reinforced the diagnosis of CD: human leukocyte antigen (HLA) A*24,*29; B*08,*14; DRB1*01, *03; DQA1*01:01, 05:01; DQB1*02,*05.


 Initially she was treated with intravenously administered infusions of Ca, potassium, and magnesium, followed by oral supplements of Ca, potassium, vitamin D, and multivitamins. Following the diagnosis of CD, she was placed on a GFD. She was discharged from our hospital after 2 weeks. During a follow-up visit, 2 months later, no further episodes of carpal spasms were reported; there were lower titers of CD-specific antibody followed by normalization after 8 months on GFD.She did not return for further follow-up visits. Four years later she was admitted again to our hospital because of a 24-hour history of carpal spasm. Recently, progressive malaise, anorexia, diarrhea, abdominal pain, and weight loss were also present. Despite our recommendation she had not adhered to a GFD during the past years. A subsequent physical examination revealed a lean child; she weighed 17 kg (under fifth percentile). She was uncommunicative, anxious, and irritable. She had dry pale skin and her adipose tissue was diminished at all levels. She had a distended abdomen, poor nutritional status, and poor psychophysical development.She came from a rural area. She lives with a big family on a low income, therefore, their poor socioeconomic status led to GFD cessation. As a result, unfortunately, at the age of 7 years, she presented with delayed psychophysical development.


CD is the only treatable autoimmune disease, provided that a correct diagnosis is achieved and a strict lifelong GFD is implemented. Endoscopy with biopsy as an invasive procedure is considered the diagnostic gold standard, but it has been recently questioned.It is considered clinically useful to shift to a quantitative approach that can be defined as the “4 out of 5” rule; the diagnosis of CD is confirmed if at least four of the following five criteria are satisfied: typical symptoms of CD; positivity of serum CD IgA class autoantibodies at high titer; HLA-DQ2 or DQ8 genotypes; celiac enteropathy at a small bowel biopsy; and response to a GFD.At the beginning, our patient had no history of chronic diarrhea and weight loss as frequent symptoms of CD; however, recurrent carpal spasms indicated the necessity for further investigations. Since serological test, biopsy, and genetic test were positive, and there was also a good response to GFD, the criteria for confirming the diagnosis of CD were met.The mechanism of hypocalcemia in CD is complex. Ca malabsorption is due to villous atrophy in the proximal intestine. Villous atrophy causes a reduction in active absorption of Ca and an increase in unbound intraluminal fatty acids that bind intraluminal Ca. Ca malabsorption causes secondary hyperparathyroidism, and the latter results in an enhanced metabolic breakdown of vitamin D metabolites.Although hypocalcemia is a common finding in CD, occurring in 5 to 10% of cases at diagnosis, hypocalcemic carpopedal spasm is a rare initial manifestation of the disease. Only a few reports describe symptomatic hypocalcemia as presentation of CD in childhood. On the other hand, osteomalacia in adult patients with CD is a well-known presentation.


Celiac disease Carpal spasms Hypocalcemia

Author : Atifete Ramosaj-Morina